Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
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 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Neutropen... |
OMIM:613501 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:300400 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... |
OMIM:614372 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... |
OMIM:300310 |
Secretory Component Deficiency |
|
Secretory IgA deficiency |
OMIM:269650 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... |
OMIM:616022 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, Diarrhea, Recurrent opportunistic infections, B lymphocytopenia,... |
OMIM:601457 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... |
OMIM:614493 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Otitis media, Splenomegaly, Eczema, Diarrhea, Recurrent opportunistic in... |
OMIM:608971 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:618394 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Diarrhea, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae... |
ORPHA:276 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... |
OMIM:618261 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... |
ORPHA:331206 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... |
OMIM:616005 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ... |
OMIM:209920 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Decreased circulating to... |
OMIM:243700 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... |
ORPHA:90283 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... |
ORPHA:277 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Immunodeficiency 15A |
|
Acne inversa, Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased propor... |
OMIM:618204 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Recurrent infection of the gastrointestinal tract, Re... |
OMIM:608184 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:619802 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Recurrent respiratory infections, Diarrhea, Inflammation of the large intes... |
OMIM:618108 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... |
ORPHA:217390 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619752 |
5-Oxoprolinase Deficiency |
|
Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... |
ORPHA:169154 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased... |
OMIM:614878 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Decr... |
OMIM:616100 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... |
OMIM:617514 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:275350 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Decreased circulating antibody level, Pure red cell aplasia |
OMIM:618165 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat... |
OMIM:600802 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... |
OMIM:242850 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... |
OMIM:618986 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:615518 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... |
OMIM:619693 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Neutropenia, Recurrent enteroviral infections, Recurrent bacterial infections, B lymphocytopenia,... |
OMIM:601495 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... |
OMIM:212050 |
Purine Nucleoside Phosphorylase Deficiency |
|
Otitis media, Impaired T cell function, Recurrent opportunistic infections, Pneumonia, Recurrent ... |
OMIM:613179 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
OMIM:617062 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... |
OMIM:607624 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... |
OMIM:619164 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... |
OMIM:615767 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... |
OMIM:618048 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Pyoderma, Aplasia of t... |
OMIM:242700 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... |
OMIM:613496 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Omenn Syndrome |
|
Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Diarrhea, E... |
OMIM:603554 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc... |
ORPHA:443811 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreased circulating antib... |
OMIM:613101 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level |
OMIM:614069 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia |
OMIM:615561 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia |
ORPHA:158014 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:90362 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:618116 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
OMIM:603552 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Absent specific antibody response, Ap... |
OMIM:102700 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess, Transient neutropenia |
OMIM:607676 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... |
ORPHA:486 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... |
OMIM:308240 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... |
OMIM:300755 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou... |
OMIM:147060 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:604250 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis... |
OMIM:116920 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Splenomegaly, Lymphopenia |
OMIM:605309 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells |
OMIM:301045 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... |
ORPHA:411593 |
Complement Component C1S Deficiency |
|
Systemic lupus erythematosus, Hashimoto thyroiditis |
OMIM:613783 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis, Meningitis |
OMIM:618847 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... |
OMIM:615978 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu... |
ORPHA:158057 |
Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, Abscess, Sepsis, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:612260 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Leukopenia |
ORPHA:33355 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus |
OMIM:614420 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:482 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Dyskeratosis Congenita, Digenic |
|
Anemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... |
OMIM:620040 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233710 |
Alpha-Heavy Chain Disease |
|
Anemia, Dysgammaglobulinemia, Splenomegaly |
ORPHA:100025 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... |
ORPHA:26790 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, T... |
OMIM:615607 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level |
OMIM:615190 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233690 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:612301 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... |
OMIM:301078 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen... |
OMIM:619313 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis |
OMIM:604416 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hypoplasia of the ... |
OMIM:208900 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Recurrent enteroviral infections, Hepatosplenomegaly, Diarrhea, Recurr... |
ORPHA:79124 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Leukemia |
OMIM:208910 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Intractable diarrhea, Generalized seborrheic dermatitis, Recurre... |
OMIM:609536 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
Immunodeficiency 23 |
|
Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Abscess, Increased circulating IgG... |
OMIM:615816 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato... |
OMIM:615122 |
Immunodeficiency 47 |
|
Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Leukopenia, Chron... |
OMIM:300972 |
Cystic Fibrosis |
|
Decreased circulating antibody level |
ORPHA:586 |
Specific Granule Deficiency 2 |
|
Intractable diarrhea, Neutropenia, Sepsis, Recurrent bacterial infections, Thrombocytopenia, Recu... |
OMIM:617475 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Dys... |
OMIM:608809 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... |
ORPHA:169090 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Wiskott-Aldrich Syndrome |
|
Melena, Eczema, Diarrhea, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivi... |
OMIM:301000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
Immunodeficiency 58 |
|
Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac... |
OMIM:618131 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Immunodeficiency 43 |
|
Decreased circulating IgG level |
OMIM:241600 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:79330 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... |
OMIM:313900 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Hepatospleno... |
OMIM:612840 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Decreased seru... |
OMIM:615559 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Whim Syndrome |
|
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Seve... |
ORPHA:51636 |
Complement Factor I Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... |
OMIM:610984 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Anemia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:613412 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia |
ORPHA:444463 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia |
OMIM:613385 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Anemia, Neutropenia |
OMIM:614900 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly |
OMIM:618495 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... |
OMIM:209950 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Feeding difficulti... |
ORPHA:411696 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... |
OMIM:304790 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia |
OMIM:616871 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Abnormal cytoki... |
ORPHA:158048 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea |
OMIM:614602 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... |
ORPHA:48435 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Anisopoikilocytosis, Neutropenia |
OMIM:619835 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:306400 |
Bloom Syndrome |
|
Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati... |
ORPHA:125 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat... |
ORPHA:90363 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Hermansky-Pudlak Syndrome 2 |
|
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Gastroesophageal reflu... |
OMIM:608233 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Vici Syndrome |
|
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... |
OMIM:242840 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Elevated circulating C-reactive protein concentration, Diarrhea, Vomiting, B lymphocyt... |
OMIM:619381 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia... |
OMIM:617388 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia |
OMIM:246400 |
Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... |
OMIM:210900 |
Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:398124 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Panhypogammaglobulinemia |
ORPHA:251009 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Ile... |
OMIM:243150 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia |
OMIM:212750 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... |
OMIM:258900 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia |
ORPHA:2268 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Severe B lymphocyt... |
OMIM:620005 |
Congenital Enterovirus Infection |
|
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:292 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Lymphopenia, Neutropenia |
OMIM:616395 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting |
OMIM:616809 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Episodic vomiting, Feeding difficulties in infancy, Villous atrophy, Se... |
OMIM:616050 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Agammaglobulinemia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation |
ORPHA:47 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy... |
ORPHA:90045 |
Ataxia-Telangiectasia |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:100 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Diarrhea, Recurrent respiratory infections, ... |
OMIM:615758 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Splenomegaly |
OMIM:613327 |
Mirage Syndrome |
|
Gastroesophageal reflux, Lymphopenia, Aspiration pneumonia, Leukopenia, Sepsis, Recurrent urinary... |
OMIM:617053 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:520 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:212065 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Steatorrhea, Eczema, Sepsis, Aplastic anemia, Macrocytic anemi... |
ORPHA:811 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... |
OMIM:214500 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... |
ORPHA:3261 |
Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Thrombocytopenia, Pancytopenia, Decreased circulating antibody level, Abnormal immun... |
OMIM:242900 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Colitis, Abdominal pain, Skin rash, Diarrhea, Inflammation of the large intest... |
OMIM:301074 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P... |
ORPHA:507 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... |
ORPHA:2968 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Defective T cell proliferation, Candida esophagitis, Eosinophilic infiltration o... |
OMIM:618213 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
ORPHA:420741 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Griscelli Syndrome |
|
Splenomegaly, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Bone ... |
ORPHA:381 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Splenomegaly, Leukocytosis, Eczema, Lymphadenitis, Elevated circulating creatine... |
OMIM:615895 |
Propionic Acidemia |
|
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia |
OMIM:606054 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop... |
OMIM:615952 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi... |
OMIM:106300 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Rec... |
OMIM:612541 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent bacterial infections, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Lymphopenia, Leukopenia, Increased circulating IgG level, Thromb... |
OMIM:615934 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Felty Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:47612 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:508542 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level |
OMIM:619750 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia |
OMIM:251110 |
Roifman Syndrome |
|
Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly |
ORPHA:353298 |
Dubowitz Syndrome |
|
Decreased circulating IgA level, Acute lymphoblastic leukemia, Decreased circulating IgG level, A... |
OMIM:223370 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
ORPHA:2169 |
Autoimmune Hepatitis |
|
Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant hepa... |
ORPHA:2137 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Malabsorption, Eczematoid derm... |
ORPHA:37042 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Bloody diarrhea, Paralytic ileus, Acute colitis, Abdomi... |
ORPHA:810 |
Immunodeficiency 87 And Autoimmunity |
|
Autoimmune hemolytic anemia, Hypokalemia, Elevated circulating C-reactive protein concentration, ... |
OMIM:619573 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia |
OMIM:251100 |
Thymic Tumor |
|
Dysgammaglobulinemia |
ORPHA:100100 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia |
OMIM:277380 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly |
ORPHA:3162 |
Good Syndrome |
|
Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Decreased circulating antibody level |
ORPHA:169105 |
Hypocomplementemic Urticarial Vasculitis |
|
Skin rash, Splenomegaly, Recurrent bacterial infections, Diarrhea, Arthritis, Meningitis, Uveitis... |
ORPHA:36412 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy... |
ORPHA:449400 |
Pyoderma Gangrenosum |
|
Myositis, Rheumatoid arthritis, Pustule, Inflammation of the large intestine |
ORPHA:48104 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,... |
ORPHA:1830 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Leukopenia, Increased circulating IgM level, Neutropenia, Anemia, Thrombocytopenia |
OMIM:617303 |
Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM |
ORPHA:369837 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Aspergillosis |
|
Eosinophilia, Increased circulating IgE level, Neutropenia |
ORPHA:1163 |
Cartilage-Hair Hypoplasia |
|
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... |
OMIM:250250 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... |
ORPHA:324964 |
Thymoma |
|
Abnormal lymphocyte physiology, Aplastic anemia, Decreased circulating antibody level, Abnormal l... |
ORPHA:99867 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Recurrent pneumonia, Perianal abscess... |
OMIM:618935 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Nijmegen Breakage Syndrome |
|
Sinusitis, Recurrent infection of the gastrointestinal tract, Otitis media, Diarrhea, Recurrent u... |
OMIM:251260 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia, Eosinophilic liver infiltration |
OMIM:618999 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hemophagocytosis, Steatorrhea, Diarrh... |
ORPHA:470 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Constrictive pericarditis, Intestinal o... |
ORPHA:67 |
Idiopathic Bronchiectasis |
|
Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia, Recurren... |
ORPHA:60033 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia |
OMIM:615207 |
Sapho Syndrome |
|
Malabsorption, Osteomyelitis, Pustule, Abdominal pain, Steatorrhea, Recurrent skin infections, Sk... |
ORPHA:793 |
Fanconi Anemia, Complementation Group E |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:600901 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Decreased circulating antibody level |
OMIM:300953 |
3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Congenital Disorder Of Glycosylation, Type Iil |
|