| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity, Increased ... |
OMIM:617006 |
| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Hepatomegaly, Reduced natural killer cell activity, Decreased circulating complemen... |
OMIM:615559 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... |
OMIM:247800 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Inflammatory abnormality of the skin, Absent tonsils, Abnormality of humoral immuni... |
ORPHA:277 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgM level, Antinuclear antibody positivity, Hepatosplenomegaly, Mediastinal... |
OMIM:618534 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... |
OMIM:613496 |
| Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... |
OMIM:618459 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| 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 24 |
|
Lymphoproliferative disorder, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, De... |
OMIM:615897 |
| Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... |
OMIM:601859 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Autoimmunity, Acute kidney injury, Anti-d... |
ORPHA:567544 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Facial papilloma, Autoimmune thrombocytopen... |
OMIM:619220 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
| Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Anti-dsDNA antibody positivity, Lupus nephritis, ... |
OMIM:614420 |
| C3 Glomerulopathy |
|
Proteinuria, Acute kidney injury, Autoimmunity, C3 nephritic factor positivity, Chronic kidney di... |
ORPHA:329918 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgE level, Herpes simplex encephalitis, Increased circu... |
OMIM:618982 |
| Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... |
OMIM:603909 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
| Immunodeficiency 102 |
|
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... |
OMIM:301082 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Anti-dsDNA antibody po... |
OMIM:619375 |
| Eosinophilia, Familial |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
OMIM:131400 |
| Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Perinuclear antineutrophil antibody positivity, Decreased... |
OMIM:618394 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Rheumatoid factor positive, Histiocytosis, Increased ci... |
OMIM:209950 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent tonsillitis, Renal insufficiency, Nephrotic syndrome, Recurrent pneumonia, Decreased ci... |
OMIM:613779 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Autoimmunity, Decreased CD4:CD8 ratio, Autoimmune hemolytic a... |
OMIM:618495 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... |
OMIM:212050 |
| Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Rheumatoid factor positive, Red... |
OMIM:619632 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Decreased specific anti-polysaccharide antibody level, Rheumatoid factor positive, ... |
ORPHA:3261 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Decreased proportion of memory B cells, Anti-beta-2-Glycoprotein... |
OMIM:618048 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:619824 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Granuloma, Colitis, Recurrent urinary tract infections, Hepatosplenomegaly, Lym... |
OMIM:619802 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| C1Q Deficiency 1 |
|
Decreased circulating complement factor I concentration, Autoimmunity, Systemic lupus erythematos... |
OMIM:613652 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Autoimmunity, Skin ra... |
ORPHA:331206 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Acute kidney injury, Decreased circulating IgA level, Methylmalo... |
ORPHA:859 |
| Igg4-Related Aortitis |
|
Hydronephrosis, Cytoplasmic antineutrophil antibody positivity, Hypereosinophilia, Autoimmunity, ... |
ORPHA:449400 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level, B lym... |
OMIM:618987 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoproliferative disorder, Autoimmunity, Increased circulating antibody level, Hemolytic anemi... |
OMIM:614470 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea... |
ORPHA:169154 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... |
OMIM:615767 |
| Thymoma |
|
Autoimmunity, Pure red cell aplasia, Neoplasm, Aplastic anemia, Neoplasm of the lung, Neoplasm of... |
ORPHA:99867 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Rec... |
OMIM:613500 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Neutropenia, Decreased circulating IgA level,... |
OMIM:613502 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Autoimmune thrombocytopenia, Eczema, Autoimmune hemolytic anemia... |
OMIM:616100 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... |
OMIM:619707 |
| Autoimmune Hepatitis |
|
Anti-liver cytosolic antigen type 1 antibody positivity, Fulminant hepatitis, Antinuclear antibod... |
ORPHA:2137 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... |
OMIM:612692 |
| Immunodeficiency 70 |
|
Decreased circulating total IgM, Verrucae, Colitis, Decreased circulating total IgA, Decreased ci... |
OMIM:618969 |
| Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... |
OMIM:619130 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, Verrucae, Atopic dermatitis, Increased circulating IgE level, Recurrent bac... |
ORPHA:217390 |
| 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, B lymphocytopenia, Reduced red cell adenosine... |
OMIM:102700 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoproliferative disorder, Decreased specific anti-polysaccharide antibody level, Mediastinal ... |
OMIM:300853 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, Neutrop... |
OMIM:304790 |
| Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Recurrent ... |
OMIM:617514 |
| Immunodeficiency 95 |
|
Recurrent viral pneumonia, Increased circulating IgG3 level, Lymphopenia, Decreased circulating I... |
OMIM:619773 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... |
OMIM:617241 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Inflammation of the large intestine, Leukocytosis, Decreased cir... |
OMIM:619281 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:615715 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphoma, Neoplasm, Autoimmunity, Decreased circulating IgA level, Hepatomegaly, Impaired T cell ... |
OMIM:240500 |
| Cernunnos-Xlf Deficiency |
|
Autoimmunity, Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating ant... |
ORPHA:169079 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Decreased circulating total IgM, Leukopenia, Hepatomegaly, Ly... |
OMIM:620210 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| X-Linked Lymphoproliferative Disease |
|
Myocarditis, Autoimmunity, Hemophagocytosis, Colitis, Fulminant hepatitis, Histiocytosis, Increas... |
ORPHA:2442 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis, Hematuria |
OMIM:314000 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Ulcerative c... |
OMIM:617638 |
| Immunoerythromyeloid Hypoplasia |
|
Lymphoproliferative disorder, Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Selective Igm Deficiency |
|
Chronic sinusitis, Autoimmunity, Decreased specific antibody response to vaccination, Decreased p... |
ORPHA:331235 |
| Pgm3-Cdg |
|
Chronic otitis media, Chronic sinusitis, Autoimmunity, Hemolytic anemia, Decreased proportion of ... |
ORPHA:443811 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity |
OMIM:182410 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Decr... |
OMIM:606367 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Chilblain Lupus |
|
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Chronic m... |
ORPHA:90280 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Autoimmunity, Chronic lymphatic leukemia, Decreased ci... |
OMIM:616005 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... |
OMIM:606843 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Erythema nodosum... |
OMIM:614700 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Increase... |
OMIM:615513 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Immunodeficiency 22 |
|
Decreased circulating total IgM, Autoimmunity, Anemia, Abscess, Decreased circulating IgA level, ... |
OMIM:615758 |
| Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Proteinuria, Autoimmunity, Glomerulopathy, Decreased circulating complemen... |
ORPHA:79087 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Complement Component 4A Deficiency |
|
Reduced hemolytic complement activity, Decreased circulating complement C4 concentration, Systemi... |
OMIM:614380 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... |
OMIM:619846 |
| Lymphoproliferative Syndrome 1 |
|
Lymphoproliferative disorder, Autoimmunity, Stomatitis, Leukopenia, Anemia, Autoimmune thrombocyt... |
OMIM:613011 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center, Abnormality of the liver |
OMIM:235550 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Eczema, Redu... |
OMIM:243700 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Increased circulating IgE level, Rheumatoid factor positive, Neutropen... |
OMIM:615816 |
| Simple Cryoglobulinemia |
|
Abnormality of the kidney, Rheumatoid factor positive, Monoclonal immunoglobulin M proteinemia, I... |
ORPHA:91139 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Atopic dermatitis, Leukocytosis, Autoimmunity, Increased circulating IgE level... |
ORPHA:2902 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Atopic dermatitis, Complete or near-complete absence of s... |
ORPHA:70593 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Autoimmunity, Inflammatory abnormality of the skin, Insulin receptor antib... |
ORPHA:37042 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Absent tonsils, Decreased circulating IgA level, Abnormality of ... |
OMIM:611926 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Hypereosinophilia, Uveitis, Autoimmune hemolytic anemia, Keratoc... |
OMIM:617388 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Increased circulating antibody level, Anemia, Nep... |
ORPHA:100024 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Neutropenia,... |
OMIM:619752 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Oligoarthritis, Decrease... |
OMIM:619510 |
| Igg4-Related Kidney Disease |
|
Chronic sinusitis, Increased circulating IgG4 level, Inflammatory abnormality of the skin, Enlarg... |
ORPHA:449395 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia |
OMIM:133180 |
| Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy, Eosinophilia |
ORPHA:482 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Colon cancer, Decreased circulating IgG2 level, Decreased circul... |
OMIM:300310 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Hodgkin ... |
OMIM:236000 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
| Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Hemolytic anemia, Nephritis, Lupus nephritis, Arthritis, Thrombocytopenia... |
OMIM:152700 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:614069 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Increased circulating IgE level, Hepatomegaly, Lymph... |
OMIM:602450 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... |
OMIM:619705 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Lymphoproliferative Syndrome 3 |
|
Lymphoproliferative disorder, Hepatosplenomegaly, Partial absence of specific antibody response t... |
OMIM:618261 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Cytoplasmic antineutrophil antibody positivity, Malar rash, Leuk... |
OMIM:615934 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Decreased circulating total IgM, Optic neuritis, Complete or near-complete ab... |
OMIM:301081 |
| Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Increased circulating IgE level, Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Ke... |
OMIM:618523 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... |
OMIM:153600 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
| Nephrotic Syndrome, Type 7 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... |
OMIM:615008 |
| Primary Membranoproliferative Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Acute kidney injury, C3 nephritic factor positivity, Stage 5 ... |
ORPHA:54370 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Skin rash, Increased circulating IgE level, Eosinophilia, Recurrent pneumo... |
OMIM:147060 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Autoimmunity, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Decreased circulating... |
OMIM:617780 |
| Lysinuric Protein Intolerance |
|
Oroticaciduria, Decreased glomerular filtration rate, Hyperlysinuria, Hemophagocytosis, Hyperalan... |
ORPHA:470 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating IgE level, Chronic mucocutaneous candidiasis, Decreased ... |
OMIM:618282 |
| Schimke Immuno-Osseous Dysplasia |
|
Autoimmunity, Proteinuria, Lymphopenia, Hyperlipidemia, Thrombocytopenia, Focal segmental glomeru... |
ORPHA:1830 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Recurrent otitis media, Recurre... |
OMIM:615577 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Hepatomegaly, Chronic oral candidiasis, Decreased p... |
ORPHA:276 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... |
OMIM:269840 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
| Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... |
OMIM:173590 |
| Specific Granule Deficiency 1 |
|
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... |
OMIM:245480 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Autoimmunity, Leukocytosis, Anemia, Rheumatoid factor positive, Antineutrophil antib... |
ORPHA:90060 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Autoimmune hemolyti... |
OMIM:301078 |
| Preeclampsia |
|
Abnormality of the hepatic vasculature, Proteinuria, Abnormality of the kidney, Autoimmunity, Acu... |
ORPHA:275555 |
| Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Arthritis, Discoid lupus rash, Complement deficiency, Nephritis |
OMIM:216950 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Abnormal circulating lipid concentration, Nephrotic syndrome, Decreased circulating ... |
OMIM:608709 |
| Insulin Autoimmune Syndrome |
|
Autoimmunity, Increased circulating antibody level, Arthralgia/arthritis, Systemic lupus erythema... |
ORPHA:411593 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Hemophagocytosis, Aplastic anemia, Neutropenia, Fulminant hepatitis, Reduced na... |
OMIM:308240 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Hemophagocytosis, Aplastic anemia, Colitis, Hepatomegaly, Sp... |
OMIM:300635 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Chronic (near) absent circulating IgG4, Reduced isohemaggluti... |
OMIM:614699 |
| Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... |
OMIM:619774 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic sinusitis, Autoimmunity, Decreased specific pneumococcal antibody level, Recurrent urinar... |
ORPHA:183675 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physiology, H... |
OMIM:613101 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... |
OMIM:619271 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphop... |
ORPHA:444463 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Hepatosplenomegaly, Acute otitis media, Decreased circulating total IgM, Impaired lymphocyte tran... |
ORPHA:35078 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Abnormality of the kidney, Increased circulating IgG4 level, Autoimmunity, Increased... |
ORPHA:449432 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Chronic hepatitis, Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Increased circulatin... |
OMIM:308230 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Glomerulonephritis, Rheumatoid factor positive, Antineutrophil antibody posit... |
ORPHA:99931 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Neutropenia, Absent circulating B cells, Recurrent otitis media, A... |
OMIM:613501 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T ... |
ORPHA:90362 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria,... |
ORPHA:2134 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmunity, Decreased circulating beta-2-microglobulin level, Decreased proportion of CD4-posit... |
ORPHA:572 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia |
ORPHA:318 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Verrucae, Autoimmunity, Hashimoto thyroiditis, Skin rash, Recurrent aphthous stomatitis, Decrease... |
ORPHA:275 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:614878 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatosplenomegaly, Proteinuria, Cholestatic liver disease, Hemophagocytosis, Intestinal inflamma... |
OMIM:619858 |
| Agammaglobulinemia, X-Linked |
|
B lymphocytopenia, Complete or near-complete absence of specific antibody response to Haemophilus... |
OMIM:300755 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestasis, Granuloma, Anti-liver cytosolic antigen type 1 antibody positivity, Increased circul... |
ORPHA:562639 |
| Brucellosis |
|
Myocarditis, Leukocytosis, Rheumatoid factor positive, Granuloma, Hepatomegaly, Intrarenal absces... |
ORPHA:1304 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... |
ORPHA:2585 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... |
OMIM:301000 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Antineutrophil antibody positivity, Lymphopenia, Increased circula... |
ORPHA:2688 |
| Pediatric Systemic Lupus Erythematosus |
|
Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat... |
ORPHA:93552 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... |
OMIM:155100 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
| Tn Polyagglutination Syndrome |
|
Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... |
OMIM:312863 |
| Pauci-Immune Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Cytoplasmic antineutrophil antibody positivity, Glomeruloneph... |
ORPHA:93126 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes |
ORPHA:721 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmunity, Autoimmun... |
OMIM:615952 |
| Boutonneuse Fever |
|
Maculopapular exanthema, Leukopenia, Cervical lymphadenopathy, Skin rash, Renal insufficiency, In... |
ORPHA:83313 |
| Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Lymphoma, Dysgammaglobulinemia... |
ORPHA:100025 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Rheumatoid factor positive, Elevate... |
ORPHA:48435 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Agammaglobulinemia, Decreased lympho... |
OMIM:615592 |
| Lymphoproliferative Syndrome 2 |
|
Lymphoproliferative disorder, Hepatosplenomegaly, Hemophagocytosis, Aplastic anemia, Uveitis, Hep... |
OMIM:615122 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:605258 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Schnitzler Syndrome |
|
Leukocytosis, Skin rash, Anemia, Hepatomegaly, Arthritis, Increased circulating IgM level, Lympha... |
ORPHA:37748 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
| Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, In... |
ORPHA:400 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Crescentic glomerulonephritis, Arthritis, Mesangial hypercellularity, Elevated circulating C-reac... |
OMIM:616414 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Erythroderma, Eosinophilia |
OMIM:270300 |
| C3 Glomerulopathy 3 |
|
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... |
OMIM:614809 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Recurrent pneumonia, Pustule |
OMIM:616069 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Rheumatoid factor positive, Ureteropelvic junct... |
ORPHA:49041 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Recurrent cutaneous abscess formation, Neoplasm, Autoimmunity, Skin rash, A... |
ORPHA:47 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... |
OMIM:619201 |
| Whim Syndrome 1 |
|
Verrucae, Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level, ... |
OMIM:193670 |
| Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Osteoarthritis, Antinuclear antibody positivity, Proteinuria, Abnormal circulating ... |
ORPHA:2298 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphoma, Decreased circulating total IgM, Chylous ascites, Autoimmunity, Decreased prealbumin le... |
ORPHA:90363 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... |
OMIM:241600 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphoma, Recurrent urinary tract infection... |
OMIM:613179 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Nephrotic syndrome, Decreased circulating complement C3 concentration, Membranoproli... |
OMIM:613913 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Erythema nodosum... |
OMIM:615214 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Hepatomegaly, Decreased circulating IgA level, Methylmalonic aci... |
OMIM:275350 |
| Immunodeficiency 46 |
|
Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Arthritis, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, B lymphocytopenia, Conjunctivi... |
OMIM:601457 |
| Netherton Syndrome |
|
Hypereosinophilia, Increased circulating IgE level, Chronic rhinitis, Recurrent skin infections, ... |
OMIM:256500 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Aspergillosis |
|
Abnormality of the kidney, Increased circulating IgE level, Eosinophilia, Hepatitis, Sinusitis, I... |
ORPHA:1163 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Impaired plate... |
OMIM:300835 |
| Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... |
OMIM:615206 |
| Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Thyroiditis, Increased circulating IgE level, Eczema |
OMIM:618985 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
| Prolidase Deficiency |
|
Increased circulating antibody level, Hyperimidodipeptiduria, Anemia, Hepatomegaly, Prolonged neo... |
OMIM:170100 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Hemolytic-uremic syndrome, Renal i... |
OMIM:619644 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level, Nephrotic syndrome, Macronod... |
OMIM:215250 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Hepatomegaly, Micronodular cirrhosis, Hepatic steatosis, Ascites, Decreased circulating... |
OMIM:301045 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
| Igg4-Related Ophthalmic Disease |
|
Cholangitis, Abnormality of the kidney, Increased circulating IgG4 level, Orchitis, Colon cancer,... |
ORPHA:449563 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Bone marrow hypocellularity, Refractory anemia, Myelodysplasia, Systemic lupus erythe... |
OMIM:616871 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased serum creatinine, Hypohomocysteinemia, Recurrent skin ... |
OMIM:617744 |
| Papa Syndrome |
|
Proteinuria, Increased inflammatory response, Increased circulating antibody level, Pustule, Arth... |
ORPHA:69126 |
| Hypocomplementemic Urticarial Vasculitis |
|
Proteinuria, Glomerulopathy, Autoimmunity, Skin rash, Renal insufficiency, Uveitis, Hepatomegaly,... |
ORPHA:36412 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Thrombocytopenia, Refractory anemia, Leukopenia |
OMIM:231095 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... |
OMIM:618108 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
| Anti-Glomerular Basement Membrane Disease |
|
Proteinuria, Glomerulopathy, Autoimmunity, Anemia, Renal insufficiency, Arthritis, Hematuria |
ORPHA:375 |
| Netherton Syndrome |
|
Hydronephrosis, Skin rash, Ectopic kidney, Increased circulating IgE level, Eczema, Aminoaciduria... |
ORPHA:634 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:603552 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Malar rash, Lupus anticoagulant, Anemia, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... |
OMIM:150550 |
| Unclassified Myelodysplastic Syndrome |
|
Autoimmunity, Leukocytosis, Bone marrow hypocellularity, Myelodysplasia, Multiple lineage myelody... |
ORPHA:98827 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Systemic Lupus Erythematosus 17 |
|
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia |
OMIM:301080 |
| Reticular Dysgenesis |
|
Chronic otitis media, Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Skin rash, Abnormalit... |
ORPHA:33355 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia,... |
OMIM:608184 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Partial absence of specific antibody... |
OMIM:618986 |
| Lead Poisoning |
|
Increased LDL cholesterol concentration, Chronic kidney disease, Tubulointerstitial nephritis, Ab... |
ORPHA:330015 |
| Thymic Tumor |
|
Autoimmunity, Mediastinal lymphadenopathy, Neoplasm of the thymus, Neuroendocrine neoplasm, Peric... |
ORPHA:100100 |
| Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... |
OMIM:256020 |
| Immunodeficiency 47 |
|
Decreased circulating total IgM, Leukopenia, Normocytic anemia, Cholestasis, Hepatic bridging fib... |
OMIM:300972 |
| Immunodeficiency 37 |
|
Infectious encephalitis, Decreased circulating antibody level, Colitis, Decreased proportion of c... |
OMIM:616098 |
| Slc35A1-Cdg |
|
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Hepatomegaly, Abnormal circulating IgG level, Eosinophilia, Sin... |
OMIM:226990 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615617 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Steroid-resistant... |
OMIM:617609 |
| Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti... |
OMIM:161900 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Decreased circulating total IgM, Decreased specific antibody ... |
ORPHA:221139 |
| Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Lymphopenia, Hemolytic anemia |
OMIM:616744 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Bloom Syndrome |
|
Acute lymphoblastic leukemia, Neoplasm of the breast, Nephroblastoma, Acute myeloid leukemia, Rec... |
ORPHA:125 |
| Nephrotic Syndrome, Type 16 |
|
