Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... |
OMIM:615897 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... |
OMIM:613502 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... |
OMIM:616636 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... |
OMIM:612692 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... |
OMIM:607594 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Death in infancy, Persistent CMV viremia, Autoimmun... |
OMIM:617514 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Recurrent ... |
ORPHA:98813 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... |
OMIM:614069 |
Immunodeficiency 15B |
|
Death in infancy, Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections,... |
OMIM:615592 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616911 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... |
ORPHA:277 |
Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Hepatosplenomegaly, Decreased circulating antibody level, Recu... |
OMIM:618261 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:617765 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Lymphopenia, Persistent EBV viremia, Decreased circulating tota... |
OMIM:619510 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... |
OMIM:243700 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Abnormal lymphocyte physiology, Chronic mucocutaneous candidias... |
OMIM:613953 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Splenomegaly, ... |
OMIM:620210 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Death in childhood, Reduced... |
OMIM:607624 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... |
OMIM:615214 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total Ig... |
ORPHA:2643 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... |
OMIM:269840 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... |
OMIM:619846 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Disseminated nontuberculous my... |
OMIM:300636 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Immunodeficiency 19 |
|
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... |
OMIM:615617 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ... |
OMIM:618394 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up... |
OMIM:616100 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... |
OMIM:193670 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Increased circula... |
OMIM:619752 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf... |
ORPHA:331235 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death i... |
OMIM:619164 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... |
OMIM:614878 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Neutropenia, Sepsis, Decreased circ... |
OMIM:616740 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Meningitis, Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to ... |
OMIM:601457 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... |
OMIM:300755 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells |
OMIM:619693 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, R... |
ORPHA:169160 |
Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to... |
OMIM:615758 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... |
OMIM:209950 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection... |
ORPHA:572 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... |
OMIM:614493 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... |
OMIM:618986 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Schnitzler Syndrome |
|
Splenomegaly, Increased circulating IgM level, Leukocytosis, Anemia |
ORPHA:37748 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Death in infancy, Splenomegaly, Leukocytosis, Decreased circula... |
OMIM:618042 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent oral herpes, Frequent Giardia lamblia infestation, Dec... |
OMIM:615577 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Decreased ci... |
OMIM:137100 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections |
OMIM:146830 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Decreased c... |
ORPHA:397596 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... |
ORPHA:436159 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... |
OMIM:618108 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Recurre... |
OMIM:618048 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphade... |
OMIM:614700 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
Gamma-A-Globulin, Defect In Assembly Of |
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Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Lymphoproliferative Syndrome 2 |
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Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... |
OMIM:615122 |
Mannose-Binding Lectin Deficiency |
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Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Autoinflammatory Disease, Systemic, X-Linked |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
Immunodeficiency 21 |
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Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... |
OMIM:614172 |
Immunodeficiency 43 |
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Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Congenital Disorder Of Glycosylation, Type Iir |
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Decreased proportion of CD4-positive T cells, Decreased circulating antibody level, Recurrent inf... |
OMIM:301045 |
Immunodeficiency 75 With Lymphoproliferation |
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Recurrent respiratory infections, Follicular hyperplasia, Decreased proportion of class-switched ... |
OMIM:619126 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Reticular Dysgenesis |
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Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib... |
ORPHA:33355 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Splenomegaly, Recurrent upper respiratory tract infections, Abnormal natural killer cell physiolo... |
OMIM:613101 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Immunodeficiency, Common Variable, 6 |
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Recurrent respiratory infections, Hepatomegaly, Autoimmune thrombocytopenia, Recurrent bacterial ... |
OMIM:613496 |
Immunodeficiency 110 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, R... |
ORPHA:221139 |
Bone Marrow Failure Syndrome 4 |
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Recurrent respiratory infections, Thrombocytopenia, Decreased circulating antibody level, Leukope... |
OMIM:618116 |
Immunodeficiency 17 |
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Death in infancy, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral can... |
OMIM:615607 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
Immunodeficiency 92 |
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Hepatomegaly, Recurrent oral herpes, Persistent CMV viremia, Cholangitis, Leukocytosis, BCGosis, ... |
OMIM:619652 |
Mu-Heavy Chain Disease |
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Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
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Decreased circulating antibody level |
ORPHA:2572 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Hepatome... |
OMIM:301078 |
Complement Component 7 Deficiency |
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Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Ab... |
OMIM:301000 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... |
ORPHA:911 |
Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count, Recurrent ... |
OMIM:615468 |
Primary Intestinal Lymphangiectasia |
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Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating... |
ORPHA:90362 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 104 |
|
Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Lymphadenopa... |
OMIM:608971 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... |
ORPHA:83471 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Stillbirth, Decreased circulating IgG level |
OMIM:152800 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... |
OMIM:613011 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... |
OMIM:242860 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c... |
OMIM:616576 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Increased circulating IgE level |
ORPHA:1858 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulat... |
OMIM:300635 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
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Increased circulating IgE level |
ORPHA:89843 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent he... |
ORPHA:183675 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... |
OMIM:613179 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... |
OMIM:618282 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Decreased circulating total I... |
OMIM:612301 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
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Increased circulating IgE level |
OMIM:616069 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Boutonneuse Fever |
|
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia |
ORPHA:83313 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Patent ductus arteriosus, Recurrent infections |
ORPHA:99811 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... |
ORPHA:443811 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T... |
OMIM:603554 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Death in infancy, Splenomegaly, Decreased circulating antibo... |
OMIM:300972 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 40 |
|
Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia... |
OMIM:616433 |
Icf Syndrome |
|
Communicating hydrocephalus, Recurrent respiratory infections, Abnormality of neutrophils, Decrea... |
ORPHA:2268 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Decreased... |
OMIM:620040 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Recurrent ear infectio... |
ORPHA:79124 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level, Cryptorchidism, Recurrent infections |
OMIM:616910 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnor... |
OMIM:612260 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Death in infancy, Recurrent pneumonia, Neutropenia, Sepsis, ... |
OMIM:617475 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy, Recurrent infections |
OMIM:251240 |
Netherton Syndrome |
|
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... |
OMIM:226990 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... |
ORPHA:125 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:100025 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Recurrent upper respiratory tract infections, Abnormally low T cell receptor e... |
OMIM:618806 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Polycystic ovaries, Decreased circulating antibody level, Lymph... |
ORPHA:100 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... |
OMIM:617744 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Decreased circulating IgG2 level |
OMIM:300076 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Panhypogammaglobulinemia, Recurrent infections |
ORPHA:251009 |
X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level |
ORPHA:2571 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Roifman Syndrome |
|
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Lymp... |
ORPHA:353298 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Meningitis, Sepsis |
OMIM:618847 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegal... |
OMIM:612840 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,... |
ORPHA:90045 |
Lambert Syndrome |
|
Branchial anomaly, Decreased circulating antibody level |
ORPHA:1296 |
Griscelli Syndrome |
|
Encephalocele, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Decreased circulating ant... |
ORPHA:381 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233710 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Cryptorchidism, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent... |
OMIM:607143 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233690 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... |
ORPHA:508533 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurren... |
OMIM:615207 |
Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutropenia, ... |
ORPHA:33110 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Cryptorchidism, Patent... |
OMIM:620005 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec... |
ORPHA:90363 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... |
OMIM:615952 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Decreased circulating antibody level, Recurrent infections, Hydrocele testis, Recur... |
OMIM:605309 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Xq28 (MECP2) duplication |
|
Death in childhood, Recurrent respiratory infections, Decreased circulating IgA level |
DECIPHER:45 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Recurrent infections... |
OMIM:619381 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Mogs-Cdg |
|
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Hydroc... |
ORPHA:79330 |
Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Lymphadeni... |
ORPHA:319552 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Eosinophilia, Decreased circulating antibody level, Recurrent infections, Lymph... |
OMIM:617425 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial... |
ORPHA:169090 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... |
ORPHA:330015 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Decreased ... |
OMIM:210900 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... |
OMIM:619750 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
Obesity Due To Congenital Leptin Deficiency |
|
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ... |
ORPHA:66628 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... |
ORPHA:507 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent bacterial infection... |
OMIM:612783 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... |
OMIM:602668 |
Acquired Partial Lipodystrophy |
|
Decreased circulating complement C3 concentration, Lymphocytosis |
ORPHA:79087 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Recurrent pneumonia, Sepsis, Agammaglobu... |
ORPHA:47 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ... |
ORPHA:179494 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Recurrent respiratory infections, Hepatomegaly, Decreased proportion of marginal zone B cells, Au... |
OMIM:619375 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Decreased CD4:CD8 ratio, ... |
OMIM:608233 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Pancytopenia, Impaired T cell function, Splenomegaly, Hydrocephalus, Patent duc... |
OMIM:614576 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hypocell... |
OMIM:617303 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... |
OMIM:208900 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Increased circulating IgA level, Follicular hyperplasia, Recurr... |
OMIM:615934 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... |
OMIM:616084 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis, Severe infection |
ORPHA:206594 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... |
ORPHA:30 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Recurrent viral infections, Recurrent pneumonia, Decreased circulati... |
ORPHA:420741 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia, Thrombocytosi... |
OMIM:226300 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Testicular atr... |
OMIM:618165 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Patent ductus arteriosus, Decreased circulating total IgM, Hydrocephalus, Annular pancreas |
OMIM:618162 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar... |
ORPHA:293978 |
Tularemia |
|
Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Lymphadenopat... |
ORPHA:3392 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, De... |
ORPHA:1572 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal... |
ORPHA:540 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu... |
OMIM:615966 |
Whim Syndrome |
|
Lymphadenitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnorma... |
ORPHA:51636 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Decreased circulating antibody level |
ORPHA:1445 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia |
ORPHA:935 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:306400 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... |
OMIM:116920 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Thrombocytopenia, Abnormal... |
OMIM:242900 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... |
ORPHA:37042 |
Vici Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Recurrent viral infections, Decreased circulating ... |
OMIM:242840 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Sézary Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Abnormal immunoglobulin level |
ORPHA:3162 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Vici Syndrome |
|
Recurrent respiratory infections, Death in infancy, Decreased circulating IgG2 level, Recurrent i... |
ORPHA:1493 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Umbilical hernia, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Ebola Hemorrhagic Fever |
|
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomega... |
OMIM:612541 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Recurrent infections, Anemia, Lymphadenopathy, Increased circulating antibody level... |
OMIM:617591 |
Tick-Borne Encephalitis |
|
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... |
ORPHA:297 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Alg12-Cdg |
|
Recurrent respiratory infections, Recurrent ear infections, Abnormal circulating IgA level, Parti... |
ORPHA:79324 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hydrocephalus, Sepsis, Anemia, Leukopenia, Recurrent bacteria... |
OMIM:617053 |
Cowden Syndrome 1 |
|
Decreased circulating antibody level, Hydrocele testis, Ovarian cyst, Recurrent infections, Ovari... |
OMIM:158350 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co... |
OMIM:615978 |
Pneumocystosis |
|
Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Increased circulating antibody level... |
ORPHA:723 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocyt... |
OMIM:251260 |
Prolidase Deficiency |
|
Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Increased circulating antibody l... |
OMIM:170100 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, ... |
OMIM:618278 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... |
OMIM:617388 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy... |
ORPHA:505248 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Granuloma, Increased circulating IgM level |
ORPHA:562639 |
Rift Valley Fever |
|
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia |
ORPHA:319251 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... |
ORPHA:167 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection |
OMIM:618309 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli... |
ORPHA:99867 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Recurrent infections,... |
ORPHA:1830 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Recurre... |
OMIM:603903 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Decreased circulating antibody level, Recurrent infecti... |
OMIM:615688 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulat... |
ORPHA:369837 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Decreased c... |
ORPHA:79329 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antib... |
OMIM:248500 |
Japanese Encephalitis |
|
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level |
ORPHA:79139 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Splenomegaly, Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... |
ORPHA:508542 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Brucellosis |
|
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Increas... |
ORPHA:1304 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... |
OMIM:617237 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Decreased circulating total IgM, B... |
ORPHA:83617 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Pancytopenia, Hypersplenism, Splenomegaly, Decreased circulatin... |
OMIM:613385 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le... |
ORPHA:811 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Leukemia, Cryoglobulinemia, Monoclon... |
ORPHA:33226 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Neutrophilia, Chronic lymphocytic meningitis, Microcytic anem... |
ORPHA:99843 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449395 |
Primary Biliary Cholangitis |
|
Increased circulating IgM level, Increased circulating IgA level |
ORPHA:186 |
C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Chronic mucocutaneous candidiasis, Decreased circ... |
ORPHA:227990 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... |
ORPHA:79078 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Chronic mucocutane... |
ORPHA:227982 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Coccidioidomycosis |
|
Abscess, Eosinophilia, Abnormality of the spleen, Increased circulating IgG level, Increased circ... |
ORPHA:228123 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Recurrent pneumonia, Decreased circulating IgA level, Recurrent infections |
OMIM:613327 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev... |
ORPHA:77259 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmune throm... |
ORPHA:391487 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Papa Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Recurrent ... |
OMIM:615895 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Recurrent infections, Hyp... |
ORPHA:84064 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... |
ORPHA:99829 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Decreased circulating antibody level, Sepsis, Anemia, Recurrent infections |
ORPHA:79396 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Decreased circulating IgA level |
ORPHA:457485 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Increased circulating IgG level, Increase... |
ORPHA:99827 |
Liver Failure, Infantile, Transient |
|
Death in infancy, Decreased circulating IgG level |
OMIM:613070 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Hi... |
ORPHA:171 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level |
OMIM:212750 |
Say-Barber-Miller Syndrome |
|
Cryptorchidism, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased... |
ORPHA:3132 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Parotitis, Decreased circulating antibody level, Lymphadenopathy, Leukopenia, ... |
ORPHA:289390 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in infancy, Death in childhood, Thrombocytosis, Decreased circulating IgG level, Decreased ... |
OMIM:212065 |
Autoimmune Hepatitis |
|
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... |
ORPHA:2968 |
Congenital Analbuminemia |
|
Recurrent lower respiratory tract infections, Miscarriage, Increased circulating antibody level |
ORPHA:86816 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Recurrent infections, Umbilical hernia |
OMIM:192430 |
Simpson-Golabi-Behmel Syndrome |
|
Splenomegaly, Increased circulating IgE level, Polysplenia |
ORPHA:373 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Splenomegaly, Lymphadenopathy, Decreased circulating antibody l... |
ORPHA:2136 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Hydrocephalus, ... |
ORPHA:244 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Death in infancy, Decreased circula... |
OMIM:618183 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Dubowitz Syndrome |
|
Aplastic anemia, Cryptorchidism, Recurrent infections, Acute lymphoblastic leukemia, Decreased ci... |
OMIM:223370 |
Distal Deletion 19P |
|
Umbilical hernia, Decreased circulating antibody level |
ORPHA:96129 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Hepatosp... |
OMIM:610377 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Decreased circulating IgG level, Recurrent infections |
OMIM:601675 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Eosinophilia, Spina bifida, Pancreatic cysts, Thrombocytopenia, Leukocytosis, P... |
OMIM:274000 |
Trichothiodystrophy |
|
Recurrent bronchopulmonary infections, Cryptorchidism, Increased mean corpuscular hemoglobin conc... |
ORPHA:33364 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Recurrent bacterial in... |
OMIM:232220 |
Postinfectious Vasculitis |
|
Viral hepatitis, Persistent human papillomavirus infection, Increased circulating IgA level, Seve... |
ORPHA:48435 |
Okur-Chung Neurodevelopmental Syndrome |
|
Umbilical hernia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased cir... |
OMIM:617062 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Thrombocytopenia, Hepatosplenomegaly, Decr... |
ORPHA:470 |
Cartilage-Hair Hypoplasia |
|
Decreased circulating antibody level, Neutropenia, Anemia, Spinal dysraphism |
ORPHA:175 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Monosomy 18Q |
|
Bilateral cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Secondary growth hormone defic... |
ORPHA:1600 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia... |
OMIM:607944 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia, Neoplasm of the pancreas, Recurrent viral infections |
ORPHA:2959 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Caudal Duplication |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:1756 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Large placenta, Decreased circulating antibody leve... |
OMIM:222470 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Decreased circulating complement factor B concentration, Increased circulating ... |
ORPHA:2298 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp... |
OMIM:301074 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Parotitis |
ORPHA:449427 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Parotitis, Increased circulating interleukin 8... |
OMIM:256040 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele, Infectious encephalitis |
ORPHA:2481 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Poems Syndrome |
|
Thrombocytosis, Increased circulating antibody level, Polycythemia |
ORPHA:2905 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... |
ORPHA:284 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation |
OMIM:611134 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Medias... |
OMIM:181000 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Patent ductus arteriosus, Spina bifida |
ORPHA:1120 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bile duct proliferation, Meningocele, Anencephaly |
OMIM:603194 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |
Chromomycosis |
|
Recurrent bacterial infections, Lymphangiectasis |
ORPHA:182 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:77261 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function, Recurrent viral infections |
OMIM:176690 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess, M... |
OMIM:600145 |
Q Fever |
|
Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Granuloma, Increased circulating antibody lev... |
ORPHA:781 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Digeorge Syndrome |
|
Parathyroid agenesis, Impaired T cell function, Thrombocytopenia, Splenomegaly, Recurrent pneumon... |
OMIM:188400 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Hypoplastic nipples, Spina bifida occulta |
ORPHA:2437 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Chronic neutropenia, Hepatocellular adenoma, Recurrent bacterial infections, Hepato... |
ORPHA:79259 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Abnormal pituitary gland morphology, Euthy... |
ORPHA:64744 |
Al Amyloidosis |
|
Howell-Jolly bodies, Increased circulating antibody level, Anemia |
ORPHA:85443 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatosplenomegaly, Anemia, Decreased circulating antibody level |
ORPHA:247598 |
Triploidy |
|
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Death in infancy, Spina bifida, Cryptorchidism, Bone marrow hyp... |
ORPHA:2308 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus |
ORPHA:2176 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Impaired T cell function, Spina bifida, Splenomegaly, Hydrocephalus, Meningoc... |
ORPHA:567 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele |
OMIM:614424 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Parathyroid hypoplasia |
ORPHA:2237 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Meningocele, Spina bifida occulta, Cryptorchidism |
ORPHA:2311 |
Amish Lethal Microcephaly |
|
Death in infancy, Spina bifida |
ORPHA:99742 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Hypopituitarism |
ORPHA:1827 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Mosaic Trisomy 9 |
|
Asplenia, Cryptorchidism, Patent ductus arteriosus, Spina bifida |
ORPHA:99776 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Meningocele, Umbilical hernia |
OMIM:130720 |
Lathosterolosis |
|
Thrombocytopenia, Meningocele, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly |
ORPHA:1393 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele, Recurrent respiratory infections, Supernumerary nipple |
ORPHA:397715 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Throm... |
OMIM:615846 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Spina bifida, Cry... |
ORPHA:84 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Abnormality of the spleen, Meningocele, Abnormal t... |
ORPHA:991 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Trisomy 20P |
|
Macroorchidism, Umbilical hernia, Spina bifida, Cryptorchidism |
ORPHA:261318 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Cryptorchidism |
ORPHA:2789 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Increased circul... |
ORPHA:99826 |
Sponastrime Dysplasia |
|
Recurrent pneumonia, Neutropenia, Decreased circulating antibody level |
ORPHA:93357 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Fibular Hemimelia |
|
Thrombocytopenia, Spina bifida |
ORPHA:93323 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Recurrent pneumonia, Spina bifida, Cryptorchidism |
OMIM:234100 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Renal tubular epithelial necrosis, Increased circulating IgG level, Normochrom... |
ORPHA:91500 |
Trisomy 18 |
|
Cryptorchidism, Anencephaly, Holoprosencephaly, Spina bifida |
ORPHA:3380 |
Gaucher Disease |
|
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:355 |
Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Pheochromocytoma, Spina bifida |
ORPHA:2874 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Patent ductus arteriosus, Spina bifida |
ORPHA:2092 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt... |
ORPHA:363958 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Neu-Laxova Syndrome |
|
Spina bifida |
ORPHA:2671 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Spina bifida, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosu... |
OMIM:180849 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Patent ductus arteriosus after birth at term, Secretory IgA deficiency, Recur... |
ORPHA:500150 |
Lumbar Syndrome |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:83628 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida |
OMIM:109400 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Cryptorchidism, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small p... |
OMIM:256520 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Recurrent upper respiratory tract infections, Spinal dysraphism, Rec... |
OMIM:114290 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Aicardi Syndrome |
|
Recurrent pneumonia, Spina bifida |
OMIM:304050 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly |
OMIM:616546 |
Arima Syndrome |
|
Occipital meningocele, Anemia |
OMIM:243910 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion |
ORPHA:567983 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid adenoma |
OMIM:162200 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida |
ORPHA:508498 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Meningocele |
ORPHA:2879 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele |
OMIM:277170 |
Mowat-Wilson Syndrome |
|
Asplenia, Cryptorchidism, Patent ductus arteriosus, Decreased circulating antibody level, Recurre... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Cryptorchidism, Decreased circulating antibody level, Recurrent infections, Hydrocele t... |
ORPHA:261537 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Spina bifida |
OMIM:619480 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Cryptorchidism, Patent ductus arteriosus, Decreased circulating antibody level, Recurre... |
ORPHA:261552 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia |
ORPHA:642 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:797 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia |
OMIM:304120 |
Vater/Vacterl Association |
|
Occipital encephalocele, Patent ductus arteriosus, Spina bifida, Patent urachus |
OMIM:192350 |
Exstrophy-Epispadias Complex |
|
Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Hypoplastic nipples, Cryptorchidism |
OMIM:276820 |
Malt Lymphoma |
|
Recurrent respiratory infections, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Testicular Germ Cell Tumor |
|
|
OMIM:273300 |
Mesothelioma, Malignant |
|
|
OMIM:156240 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
|
OMIM:137245 |
Lymphoma, Non-Hodgkin, Familial |
|
|
OMIM:605027 |