Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Decreased CD4:CD8 ratio, Decr... |
OMIM:615897 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... |
OMIM:605258 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Recurrent bacteria... |
OMIM:613500 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... |
OMIM:606843 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... |
OMIM:618261 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Chronic (near) absent circu... |
OMIM:614699 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Neutropenia, Reduced natural killer cell count, Panhypogammaglo... |
OMIM:615214 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Decrease... |
OMIM:613493 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Complete or near-complete ab... |
OMIM:607271 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, BCGitis, Recurrent oral herpes, Reduced natural killer cell cou... |
OMIM:615707 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... |
OMIM:608106 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Recurrent bacterial infections, Decr... |
OMIM:613502 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Agammaglobulinemia, Decreased lympho... |
OMIM:615592 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Decreased proportion of CD3-positive T cells, Recurrent gastroe... |
OMIM:615615 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Abnormal l... |
OMIM:609529 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Molluscum contagiosum, Increased circulating IgE level, Herpes simplex enceph... |
OMIM:618982 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Immunodeficiency, Common Variable, 2 |
|
Meningitis, Hepatomegaly, Decreased circulating IgA level, Impaired T cell function, Recurrent ba... |
OMIM:240500 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Frequent Giardia lamblia infes... |
OMIM:300310 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Decreased circulat... |
OMIM:619707 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Inflammation of the large intestine, Leukocytosis, Colitis, Decr... |
OMIM:619281 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ba... |
OMIM:612692 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Recurrent lower respiratory tract infections, Lymphopenia, Recurrent upper respirat... |
OMIM:616100 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Absent tonsils, Abnormality of humoral immunity, Increased ... |
ORPHA:277 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Meningitis... |
OMIM:212050 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Decreased circulating total IgA, Chronic oral candi... |
ORPHA:169160 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Atopic de... |
OMIM:618944 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Recurrent sinopulmonary infections, Decreased circulating... |
OMIM:618394 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Malabsorption, Recurrent infection of the gastrointestinal trac... |
OMIM:137100 |
Immunodeficiency 102 |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Rec... |
OMIM:301082 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... |
OMIM:618459 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Persistent CMV viremia, Autoimmune thromboc... |
OMIM:619220 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... |
ORPHA:859 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Disseminated molluscum contagiosum, Decreased circulating total IgM, Atopic dermatitis, Severe cy... |
OMIM:617638 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Mucoid d... |
OMIM:615767 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD3-positive T cells, Recurrent lower respiratory tract infections, Decre... |
ORPHA:169154 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:619824 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Recurrent herpes, Chronic oral candidiasis, Decreas... |
ORPHA:276 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Recurrent infections, Leukopenia, Extramedullary hematopoiesis, Increased circulating antibody le... |
OMIM:615285 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Inflammation of the large intestine, Hemophagocytosis, Aplastic... |
OMIM:300635 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Hemophagocytosis, Granuloma, Colitis, Abdominal pain, Hepatos... |
OMIM:619802 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgA, Celiac dise... |
OMIM:618969 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Hepatosplenomegaly, Recurrent infections, Cervical lymphadenopat... |
OMIM:618534 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Lymphopenia, Decreased circ... |
OMIM:300988 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:611926 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent viral infections... |
OMIM:310350 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Abnormal T cell morphology, Recurrent bacterial infections, Recurr... |
OMIM:613501 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Atopic dermatitis, Dissemina... |
OMIM:243700 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 43 |
|
Hypoproteinemia, Recurrent respiratory infections, Lung abscess, Decreased circulating beta-2-mic... |
OMIM:241600 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Respiratory distress, Recurrent viral pneumonia, R... |
OMIM:619773 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent viral infect... |
ORPHA:217390 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... |
OMIM:153600 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, High palate, Decreased circulating IgA level, Decreased circulat... |
OMIM:614069 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Chronic hepatitis, Hemolytic anemia, Recurrent lower respiratory tract infections, Hepatomegaly, ... |
OMIM:308230 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... |
OMIM:615206 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased proportion of CD3-positive T cells, Hepatomegaly, Recurrent fungal infections, Reduced ... |
ORPHA:331206 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Recurrent respiratory infections, Decreased circulating t... |
OMIM:619510 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Selective Igm Deficiency |
|
Chronic sinusitis, Recurrent shingles, Decreased specific antibody response to vaccination, Decre... |
ORPHA:331235 |
Immunodeficiency 37 |
|
Infectious encephalitis, Decreased circulating antibody level, Colitis, Decreased proportion of c... |
OMIM:616098 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Recurrent respiratory infections, Absence of CD8-positive T cells, Hepatom... |
OMIM:269840 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Persistent CMV viremia, Chronic lymphatic leukemia, De... |
OMIM:616005 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Chronic intestinal candidiasis, Secretory IgA deficiency |
OMIM:269650 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Decreased proportion of cla... |
OMIM:615513 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min... |
OMIM:617006 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Decreased s... |
OMIM:300853 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, BCGitis, Increased circulating IgE level, Sepsis, He... |
OMIM:602450 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Ch... |
OMIM:606367 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Chronic diarrhea... |
OMIM:614700 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Colitis, Recurrent lower respiratory tract infections, Recurrent fungal infections... |
OMIM:209920 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent viral infections, Rec... |
OMIM:308220 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physiology, T... |
OMIM:613101 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Pulmonary bulla, Increased circulating IgE level, Reduced circul... |
OMIM:619632 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Complement deficiency |
OMIM:613791 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Hashimoto thyroiditis, Recurrent aphthous stomatitis, Skin rash, Decr... |
ORPHA:275 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis, Recurrent infections |
OMIM:235900 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent bacterial infections, Lymphopenia, Recurrent fungal infecti... |
OMIM:614868 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center, Abnormality of the liver |
OMIM:235550 |
Complement Component 6 Deficiency |
|
Reduced hemolytic complement activity, Decreased circulating complement C6 concentration, Recurre... |
OMIM:612446 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Partial absence... |
OMIM:618108 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Bronchiolitis obliterans, Increased circulating IgE level, Increased ci... |
OMIM:617241 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased proportion of clas... |
OMIM:614878 |
Complement Component 7 Deficiency |
|
Decreased circulating complement C7 concentration, Recurrent meningococcal disease, Recurrent Nei... |
OMIM:610102 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Increased circulating IgA level, Recurrent aphthous stomatitis, Intestinal obstructi... |
ORPHA:343 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent respiratory infections, Atopic dermatitis, Recurrent infections, Increased circulating ... |
OMIM:618282 |
Cyclic Neutropenia |
|
Peritonitis, Recurrent tonsillitis, Cervical lymphadenopathy, Sepsis, Abdominal pain, Severe infe... |
ORPHA:2686 |
Immunodeficiency 92 |
|
Cholangitis, Decreased proportion of class-switched memory B cells, Persistent CMV viremia, Leuko... |
OMIM:619652 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Post-vaccination polio, Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia, Recurrent ... |
OMIM:616941 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Persistent CMV viremia, Dec... |
OMIM:618495 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte ... |
OMIM:613953 |
Immunodeficiency 52 |
|
Persistent CMV viremia, Recurrent infections, Autoimmune thrombocytopenia, Increased proportion o... |
OMIM:617514 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, Co... |
ORPHA:70593 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Recurrent infection of the g... |
OMIM:608184 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating total... |
OMIM:620210 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgE level, Re... |
OMIM:611521 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE l... |
OMIM:147060 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, B lymphocyt... |
ORPHA:35078 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Abnormal bronchus physiology, Leukocytosis, Anemia, Histiocytosis, Increased ... |
OMIM:209950 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Anemia, Recurrent bacterial infections, Lymphopenia, Thrombocytopenia... |
ORPHA:169079 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Recurrent infections, Agammaglobulinemia |
OMIM:616911 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo... |
ORPHA:70592 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent lower respiratory tract infections, Reduced natural killer cell activity, Hepatomegaly,... |
OMIM:615559 |
Immunodeficiency 21 |
|
Myeloid leukemia, Recurrent viral infections, Aplastic anemia, Anemia, Reduced natural killer cel... |
OMIM:614172 |
Agammaglobulinemia, X-Linked |
|
Recurrent lower respiratory tract infections, B lymphocytopenia, Complete or near-complete absenc... |
OMIM:300755 |
Complement Factor B Deficiency |
|
Peritonitis, Meningitis, Recurrent bacterial infections, Pneumonia, Recurrent meningococcal disea... |
OMIM:615561 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Neutropenia,... |
OMIM:619752 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Recurrent sinopulmonary infections, Autoim... |
OMIM:619846 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell... |
ORPHA:572 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent otitis... |
OMIM:618523 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis, Recurrent lower respiratory tract infections, Re... |
OMIM:615139 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Abnormal... |
OMIM:600802 |
Pgm3-Cdg |
|
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... |
ORPHA:443811 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Hepatomegaly, Recurrent fungal infections, B lymphocytopeni... |
OMIM:102700 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Feeding difficulties, Decreased circulating IgA level, Recurrent lower respiratory tract infectio... |
OMIM:617744 |
Complement Factor D Deficiency |
|
Partial functional complement factor D deficiency, Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Recurrent lower res... |
OMIM:619774 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, Neutrop... |
OMIM:304790 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:300636 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Failure to thrive secondary to recurrent infections, Hepatomegaly, T lym... |
OMIM:608971 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Recurrent ba... |
OMIM:202700 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Frequent Giardia lamblia infestation, Pyloric stenosis, Recurren... |
OMIM:615577 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Colitis, Chronic oral candidiasis, Chronic diarrhea, Hepatosplenomegaly, Recurrent bacterial skin... |
ORPHA:911 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... |
OMIM:614102 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Recurrent lowe... |
OMIM:615758 |
Netherton Syndrome |
|
Recurrent respiratory infections, Hypereosinophilia, Increased circulating IgE level, Brittle hai... |
OMIM:256500 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... |
OMIM:601859 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Melanin pigment aggregation in hair shafts, Hemophagocytosis, Recurrent bacte... |
OMIM:607624 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Delayed puberty, Increased circulating IgE level, Short stature, Thyroiditis, Postnatal growth re... |
OMIM:618985 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Complement Component 8 Deficiency, Type Ii |
|
Decreased circulating complement C8 concentration, Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Leukocytosis, Ulcerative colitis, Anemia |
OMIM:619398 |
Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy, Eosinophilia |
ORPHA:482 |
X-Linked Agammaglobulinemia |
|
Chronic otitis media, Recurrent cutaneous abscess formation, Meningitis, Skin rash, Anemia, Sepsi... |
ORPHA:47 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic sinusitis, Recurrent shingles, Recurrent lower respiratory tract infections, Recurrent he... |
ORPHA:183675 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Peeling Skin Syndrome 1 |
|
Onycholysis, Increased circulating IgE level, Brittle hair, Short stature, Eosinophilia, Nail dys... |
OMIM:270300 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Respirat... |
ORPHA:444463 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Recurrent pneumonia, B lymphocytopenia, Lymphadenopathy, Recurrent bronchio... |
OMIM:619164 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, B lymphocytopenia, Pancytopenia, De... |
OMIM:616873 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... |
OMIM:614493 |
Griscelli Syndrome |
|
Jaundice, Abnormal eyelash morphology, Leukopenia, Abnormal eyebrow morphology, Premature graying... |
ORPHA:381 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Bronchiectasis, Recurrent upper ... |
OMIM:193670 |
Aspergillosis |
|
Pleuritis, Chronic pulmonary obstruction, Dyspnea, Sinusitis, Unusual CNS infection, Abnormality ... |
ORPHA:1163 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Decreased proportion of memory B cells, Recurrent viral infectio... |
OMIM:618048 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
Autoinflammation With Infantile Enterocolitis |
|
Meningitis, Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Thro... |
OMIM:616050 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Gastroesophageal reflux, Decreased circulating IgA level, Const... |
DECIPHER:45 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Recurrent infections, Increased circulating antibody level, Hem... |
OMIM:614470 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hemophagocytosis, Fulminant hepatitis, Reduced natural killer cell activity, Hepatomegaly, Increa... |
OMIM:308240 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Meningitis, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, Di... |
OMIM:601457 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Sple... |
OMIM:619437 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... |
OMIM:619705 |
Tularemia |
|
Leukocytosis, Cutaneous abscess, Confusion, Erythema nodosum, Increased circulating antibody leve... |
ORPHA:3392 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased proportion of HLA DR+ T cells, Hepatomegaly, Increased circulating IgM level, Decreased... |
OMIM:603909 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... |
OMIM:267500 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Abnormal eyelash morphology, Abnormal eyebrow morphology, Abnormality of the a... |
ORPHA:90368 |
Specific Granule Deficiency 1 |
|
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... |
OMIM:245480 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level |
OMIM:247800 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Meningitis, Anemia, Sepsis, Ch... |
OMIM:616740 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to thrive, Hypoalbu... |
OMIM:613752 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic otitis media, Eczematoid dermatitis, Severe infection, Chronic oral candidiasis, Decrease... |
ORPHA:83471 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Impaired oxidative burst, Anemia, BCGitis, Hepatomegaly, Abnorm... |
OMIM:226990 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, Increased circulating... |
ORPHA:2442 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Chronic otitis media, Leukopenia, Skin rash, Anemia, Sepsis, Ab... |
ORPHA:33355 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Molluscum contagiosum, Abscess, Increased cir... |
OMIM:615816 |
Shigellosis |
|
Peritonitis, Myocarditis, Bloody mucoid diarrhea, Leukocytosis, Tenesmus, Cholestasis, Abdominal ... |
ORPHA:810 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosis, Bloody diarrhea, Intest... |
OMIM:243150 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating renin level, Increased circulating corticosterone level, Failure to thrive,... |
OMIM:610600 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... |
OMIM:205950 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Decreased circulating total IgM, Cryptococcal m... |
ORPHA:90362 |
Autosomal Agammaglobulinemia |
|
Chronic otitis media, Recurrent respiratory infections, Recurrent infections, Meningitis, Skin ra... |
ORPHA:33110 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Hemophagocytosis, Colitis, Reduced natural killer cell activity, Hepatom... |
ORPHA:540 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic pulmonary obstruction, Partial absence of specific antibody response to Haemophilus influ... |
OMIM:618986 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Abs... |
OMIM:608957 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Long eyelashes, Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis, Pu... |
OMIM:616069 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Trichorrhexis nodosa, Fine hair, Increased circulati... |
ORPHA:634 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Macrophage Activation Syndrome |
|
Increased circulating interferon-gamma concentration, Abnormality of tumor necrosis factor secret... |
ORPHA:158061 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Colitis, Hepatomegaly, Gastritis, Decrease... |
ORPHA:3261 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal circulating interleukin concentration, Acu... |
ORPHA:158057 |
Adult Idiopathic Neutropenia |
|
Recurrent infections, Helicobacter pylori infection, Recurrent bacterial infections, Lymphopenia,... |
ORPHA:2688 |
Mannose-Binding Lectin Deficiency |
|
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... |
OMIM:614372 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Periungual erythema, Paratracheal lymphadenopathy, Nail dystrophy, Sparse hair, Recurrent infecti... |
OMIM:615934 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Dyspnea, Atopic dermatitis, Leukocytosis, Atelectasis, Restrictive ventilatory... |
ORPHA:2902 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Nail dystrophy, ... |
ORPHA:37042 |
Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, EBV meningitis, Hemophagocytosis, Aplastic anemia, Sepsis, Uveitis, Hepatomeg... |
OMIM:615122 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Necrotizing enterocoliti... |
OMIM:613860 |
Immunodeficiency 82 With Systemic Inflammation |
|
Intractable diarrhea, Colitis, Decreased circulating total IgA, Abdominal pain, Gastritis, Anoper... |
OMIM:619381 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Alpha-Heavy Chain Disease |
|
Anemia, Malabsorption, Hepatomegaly, Abdominal pain, Abnormal small intestine morphology, Lymphad... |
ORPHA:100025 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Enlarged kidney, Autoimmune thrombocytopeni... |
OMIM:613496 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Decreased circulating IgA level, Reduced natural killer cell count, ... |
OMIM:242860 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Neutropenia, Recurrent bacter... |
OMIM:601495 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia |
OMIM:615008 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... |
OMIM:246700 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... |
OMIM:267700 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis, Decreased circulating anti... |
OMIM:615190 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Decreased circulating total IgM, Optic neuritis, Complete or near-complete ab... |
OMIM:301081 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent urinary tract infections, Abnorma... |
OMIM:613179 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy, Anemia |
OMIM:312500 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Boutonneuse Fever |
|
Maculopapular exanthema, Leukopenia, Cervical lymphadenopathy, Skin rash, Elevated hepatic transa... |
ORPHA:83313 |
Secondary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Decreased circulating total IgM, Intestinal lym... |
ORPHA:90363 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... |
OMIM:301000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Immunodeficiency 40 |
|
Intermittent diarrhea, Rectal fistula, Eosinophilic granuloma, Focal active colitis, Hepatomegaly... |
OMIM:616433 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Delayed puberty, Enteroviral hepatitis, Meningitis, Recurrent... |
OMIM:307200 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia |
OMIM:620126 |
Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Abnormal circulating corticosterone level, Failure to thrive, ... |
ORPHA:556037 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Sepsis, Hepatomegaly, Rec... |
OMIM:612840 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level |
OMIM:618973 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Increased circulating renin level, Failure to thrive, Hyperkalemia |
OMIM:203400 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interferon-gamma concentration, Hepatomegaly, Hepatosplenomegaly, Recurrent ... |
ORPHA:79124 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia |
OMIM:620125 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Anemia, Hypoalbuminemia |
OMIM:603278 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Colitis, Perianal abscess, Enterocolitis, Pyoderma, Crohn's disease, Folliculitis |
OMIM:613148 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
Immunodeficiency 58 |
|
Chronic otitis media, Decreased specific antibody response to vaccination, Colitis, Seborrheic de... |
OMIM:618131 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Abnormal macrophage morphology, Abnormal platelet function, Abn... |
ORPHA:2585 |
Immunodeficiency 12 |
|
Absent isohemagglutinin level, Recurrent viral infections, Abnormal lymphocyte count, Skin rash, ... |
OMIM:615468 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615617 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Severe infection, Abdominal pain, Severe varicella zoster infection, Na... |
ORPHA:36234 |
Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Abnormal circulating corticosterone level, Failure to thrive, ... |
ORPHA:556030 |
Immunodeficiency 67 |
|
Liver abscess, Increased circulating IgE level, Recurrent staphylococcal infections, Transient ne... |
OMIM:607676 |
Immunodeficiency 47 |
|
Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Decreased circulating total IgA, Chronic ... |
OMIM:300972 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Increased circulating antibody level, Anemia, Hepatomegaly, Lymphadenopath... |
ORPHA:100024 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Increased circulating renin level, Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:177735 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... |
ORPHA:449400 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Recurrent infections, Autoimmune hemolytic anemia, Atrophic g... |
OMIM:616576 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Leukopenia, Anemia, Bone marrow hypocellularity, Decreased circ... |
OMIM:618116 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Skin rash, Cough, Increased ... |
ORPHA:2314 |
Ebola Hemorrhagic Fever |
|
Dyspnea, Maculopapular exanthema, Leukopenia, Increased circulating antibody level, Cough, Sepsis... |
ORPHA:319218 |
Budd-Chiari Syndrome |
|
Peritonitis, Acute hepatic failure, Jaundice, Malabsorption, Gastrointestinal infarctions, Intest... |
ORPHA:131 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Schnitzler Syndrome |
|
Leukocytosis, Skin rash, Anemia, Hepatomegaly, Arthritis, Increased circulating IgM level, Lympha... |
ORPHA:37748 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent respiratory infections, Recurrent infections, Recurrent infection of the g... |
OMIM:615207 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Peritonitis, Orchitis, Leukocytosis, Skin rash, Erysipelas, Uveitis, Intestinal obstruction, Myos... |
ORPHA:32960 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level, Abnormal toenail morphology, Nail dystrophy |
ORPHA:89843 |
Familial Mediterranean Fever |
|
Peritonitis, Chronic constipation, Orchitis, Meningitis, Leukocytosis, Erysipelas, Hepatomegaly, ... |
OMIM:249100 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Leukocytosis, Dysfunctional alternative complement pathway, Reticulocytosis, Microan... |
ORPHA:90038 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Leukocytosis, Intraalveolar phospholipid accumulation, Decrease... |
OMIM:618042 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Fragile nails, Alopecia, Failure to thrive, Increased... |
OMIM:242150 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Recurrent viral infections, Reduced natural killer cell count, ... |
OMIM:609981 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased specific antibody response to vaccination, Decreased circulating total IgA, Chronic ora... |
ORPHA:221139 |
Q Fever |
|
Myocarditis, Maculopapular exanthema, Granuloma, Hepatomegaly, Unusual infection, Hepatosplenomeg... |
ORPHA:781 |
Lymphoproliferative Syndrome 1 |
|
Stomatitis, Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatom... |
OMIM:613011 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Hepatomegaly, Decreased circulating IgA level, Reticulocytopenia... |
OMIM:275350 |
Fusariosis |
|
Peritonitis, Maculopapular exanthema, Granuloma, Abnormality of the spleen, Abnormality of the li... |
ORPHA:228119 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Zygomycosis |
|
Peritonitis, Myocarditis, Colitis, Abdominal pain, Gastritis, Nausea, Splenic abscess, Endocardit... |
ORPHA:73263 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Gastroesophageal reflux, Hashimoto thyroiditis, Hepatomegaly, D... |
OMIM:613385 |
Lactose Intolerance, Adult Type |
|
Flatulence, Abdominal pain, Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lact... |
OMIM:223100 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level, Short stature |
ORPHA:1858 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Developmental cataract, Increased LDL cholesterol concentration, Fair hair |
OMIM:618808 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Elevated fecal sodium, Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Coccidioidomycosis |
|
Peritonitis, Coccidioidal meningitis, Granuloma, Increased circulating IgM level, Abnormality of ... |
ORPHA:228123 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Abnormal intestine morp... |
OMIM:615952 |
Pseudomyxoma Peritonei |
|
Abnormality of the peritoneum, Inflammation of the large intestine, Intestinal obstruction, Abdom... |
ORPHA:26790 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased total biliru... |
OMIM:603553 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Recurrent herpes, Severe varicella zoster infection, Acute myeloid ... |
ORPHA:125 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Hypereosinophilia, Uveitis, Keratoconjunctivitis sicca, Autoimmu... |
OMIM:617388 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Hyperuricemia, Anemia, Increased blood urea nitrogen, Failure to thrive, Thrombocytop... |
OMIM:613845 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Recurrent tonsillitis, Impaired oxidative burst, Hemolytic anemia, Abscess, A... |
OMIM:618935 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Chole... |
OMIM:614576 |
Familial Mediterranean Fever |
|
Peritonitis, Acute hepatic failure, Oral leukoplakia, Orchitis, Meningitis, Skin rash, Erysipelas... |
ORPHA:342 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
BCGosis, Abnormal circulating interleukin concentration, Lymphadenitis, Severe toxoplasmosis, Coc... |
ORPHA:319552 |
Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Ma... |
ORPHA:398063 |
Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly,... |
ORPHA:507 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Inflammation of the larg... |
ORPHA:2137 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent infections, Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularit... |
OMIM:301078 |
Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Increased circulating IgA level, Recurrent infections, Leukocytosis, Skin ras... |
OMIM:260920 |
Microsporidiosis |
|
Peritonitis, Myocarditis, Abdominal pain, Bronchiolitis, Nausea, Abnormality of the spleen, Decre... |
ORPHA:2552 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Listeriosis |
|
Peritonitis, Myocarditis, Hepatic granulomatosis, Abdominal pain, Nausea, Splenic abscess, Liver ... |
ORPHA:533 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased circulating free fatty acid level, Truncal obesity, Large for gestational age |
ORPHA:293964 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Neuronal Intestinal Pseudoobstruction |
|
Malabsorption, Decreased circulating antibody level, Recurrent infections |
ORPHA:99811 |
Necrotizing Enterocolitis |
|
Peritonitis, Neonatal sepsis, Leukocytosis, Abdominal distention, Bloody diarrhea, Diarrhea, Thro... |
ORPHA:391673 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Dyskeratosis Congenita, Digenic |
|
Oral leukoplakia, Decreased circulating total IgM, Gastroesophageal reflux, Anemia, Decreased cir... |
OMIM:620040 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Abdominal pain, Gastritis,... |
OMIM:619079 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Hepatomegaly, Micronodular cirrhosis, Hepatic steatosis, Decreased liver function, Decr... |
OMIM:301045 |
Adult-Onset Still Disease |
|
Myocarditis, Generalized lymphadenopathy, Pleuritis, Leukocytosis, Meningitis, Skin rash, Restric... |
ORPHA:829 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Leukocytosis, Polycythemia, Chronic oral candidiasis, Recurrent fungal infections, I... |
ORPHA:2968 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Leukocytosis, Hypochromic anemia, Increased circulating IgE lev... |
OMIM:618213 |
Prolidase Deficiency |
|
Increased circulating antibody level, Anemia, Elevated circulating aspartate aminotransferase con... |
OMIM:170100 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia |
OMIM:240200 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Steatorrhea, Eosinophilia, Elevated circulating C-reactive protein concentr... |
ORPHA:2070 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Feeding difficulties, Pyloric stenosis, Hepatomegaly, Decreased circulating IgA level, Con... |
OMIM:613327 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Decreased circulating antibody leve... |
OMIM:617780 |
Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Anemia, Extension of hair growth on temples to late... |
ORPHA:79273 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Onychogryposis, Increased circulating IgE level, Blepharitis, Paronychia, Pustule, Erythroderma |
OMIM:614328 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Hereditary Folate Malabsorption |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Gastroesophageal reflux, Gl... |
ORPHA:90045 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Primary Peritoneal Carcinoma |
|
Peritonitis, Abdominal distention, Abdominal pain, Constipation, Nausea and vomiting |
ORPHA:168829 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Failure to thrive in infancy, Hyperkalemia, Glucocortocoid-ins... |
ORPHA:171876 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Rectovaginal fistula, Folli... |
OMIM:612567 |
Legionnaires Disease |
|
Myocarditis, Reduced consciousness/confusion, Jaundice, Endocarditis, Restrictive ventilatory def... |
ORPHA:549 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... |
OMIM:619693 |
Common Variable Immunodeficiency |
|
Chronic otitis media, Recurrent respiratory infections, Hemolytic anemia, Abnormality of the live... |
ORPHA:1572 |
Good Syndrome |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Mediastinal lymphadenopathy... |
ORPHA:169105 |
Central Diabetes Insipidus |
|
Hyponatremia, Weight loss, Failure to thrive |
ORPHA:178029 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Hypoplastic fingerna... |
ORPHA:2457 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Decreased circulating total IgM, Chronic sinusitis, Recurrent viral ... |
ORPHA:420741 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, Decreased circulating IgG2 level, Leukemia, Acute lymphoblastic leukemi... |
OMIM:208900 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Myeloid leukemia, Increased circulating antibody level, Pust... |
ORPHA:48104 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:264350 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Abnormal intestine morphology, Anemia, Malabsorption, Intestinal obstruction, Hepatomegaly, Recur... |
OMIM:226300 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Recurrent shingles, Lymphopenia, Recurrent otitis media, Recurrent pneum... |
OMIM:615518 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Leukocytosis, Skin rash, Increased proportion of CD4-positive T ... |
OMIM:617099 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia |
OMIM:144300 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Recurrent aphthous stomatitis, Intestinal obstruction, Ulcer... |
OMIM:266600 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Roifman Syndrome |
|
Hepatosplenomegaly, Hyperconvex nail, Intrauterine growth retardation, Decreased circulating anti... |
ORPHA:353298 |
Dietary Iron Overload Disease |
|
Peritonitis, Hepatocellular carcinoma, Esophageal carcinoma, Hepatic bridging fibrosis, Hepatic f... |
ORPHA:139507 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia |
OMIM:620152 |
Immunodeficiency 68 |
|
Recurrent meningitis, Abscess, Sepsis, Lymphadenitis, Abnormal natural killer cell count, B lymph... |
OMIM:612260 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... |
ORPHA:103910 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:682 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal cytokine signaling, Histoplasmosis, Severe cytomegalovirus infection, Chronic active Eps... |
ORPHA:158048 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormality of enteric ganglion morphology, Abdominal distention, Aganglionic megacolon, Constipa... |
OMIM:142623 |
Wolcott-Rallison Syndrome |
|
Hyperammonemia, Neutropenia, Hyperbilirubinemia, Lymphocytosis, Iron deficiency anemia, Decreased... |
ORPHA:1667 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Recurrent infections, Increased circulating antibody level, Skin rash, Anemia, Myositis, Hepatome... |
OMIM:617591 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia |
OMIM:232700 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Increased c... |
ORPHA:824 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hepatosplenomegaly, Eczematoid dermatitis, Recurrent viral infections, Lymphopenia, Reduced delay... |
OMIM:242700 |
Hemochromatosis, Type 5 |
|
Elevated transferrin saturation, Abnormal circulating copper concentration, Anemia, Increased ser... |
OMIM:615517 |
Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616267 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypochloremia, Increased circulating renin level, Hypokalemia, Failure to thr... |
OMIM:214700 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent tonsillitis, Recurrent bacterial infections, Recurrent pneumonia, Decreased circulating... |
OMIM:613779 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Recurrent abscess formation, Recurrent bacterial inf... |
OMIM:608233 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Abnormal transferrin saturation, Fragile nails, Increased circulating ferritin concentr... |
ORPHA:254704 |
Lead Poisoning |
|
Delayed puberty, Abnormal respiratory system physiology, Abnormal T cell morphology, Tubulointers... |
ORPHA:330015 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Impaired oxidative burst, Rec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Impaired oxidative burst, Rec... |
OMIM:233710 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Cataract, Highly arched eyebrow, Hyponatremia, Failure to thrive |
OMIM:620157 |
Microscopic Polyangiitis |
|
Peritonitis, Skin rash, Pancreatitis, Uveitis, Gastrointestinal infarctions, Arthritis, Episcleri... |
ORPHA:727 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Recurrent aphthous stomatitis, Abscess, Neutropenia, Chronic oral ... |
OMIM:150550 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volum... |
OMIM:617021 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Recurrent respiratory infections, Inflammation of the lar... |
OMIM:301074 |
Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Increased circulating antibody level, Respiratory insufficienc... |
ORPHA:723 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Stomatitis, Recurrent aphthous stomatitis, Steatorrhea, Abdominal distent... |
OMIM:212750 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Pigmentary retinopathy, Incre... |
ORPHA:71212 |
Rosaï-Dorfman Disease |
|