Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... |
OMIM:615897 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ... |
OMIM:613495 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Recurren... |
OMIM:240500 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... |
OMIM:614493 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity |
OMIM:216950 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Recurrent viral infections, Recurrent candida infections, Autoimmune thrombocyt... |
ORPHA:572 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc... |
OMIM:607594 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni... |
ORPHA:275 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Hepatomegaly, Autoimmune thrombocytopenia, Recurrent bacterial ... |
OMIM:613496 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Chronic infection, Increased circulating... |
ORPHA:139507 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... |
OMIM:193670 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Autoimmune ... |
OMIM:300853 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Autoimmunity, Decreased circulating a... |
ORPHA:169079 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Recurrent viral infections, Increased circ... |
OMIM:618048 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmuni... |
OMIM:609529 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Autoimmunity, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial i... |
ORPHA:98813 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... |
OMIM:615214 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Osteochondrosis Of The Tarsal Bone |
|
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... |
ORPHA:563991 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Hepatomegaly, Imp... |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Elevated circulating asparta... |
OMIM:615559 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Recurrent... |
ORPHA:331206 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi... |
ORPHA:2619 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Abnormal lymphocyte physiology, Recurrent cutaneous fungal infe... |
OMIM:613953 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hepatosplenom... |
OMIM:607624 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Hepatomegaly, Abnormal immunoglobulin leve... |
ORPHA:276 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... |
ORPHA:277 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Autoimmuni... |
ORPHA:83471 |
Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemia, Impaired T cell fu... |
OMIM:613179 |
Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Spleno... |
OMIM:618534 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, Decr... |
ORPHA:183675 |
Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatocellular ... |
OMIM:201475 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:243700 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration, Hepatic necrosis |
ORPHA:100093 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto... |
OMIM:601859 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections,... |
OMIM:616005 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i... |
ORPHA:911 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Autoimmune he... |
OMIM:618495 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Autoimmunity, Severe varicella zoster infection, Splenomegaly, Recurrent tonsilliti... |
ORPHA:397596 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Systemic lupus erythematosus, Recurrent tons... |
OMIM:613779 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... |
OMIM:147060 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Immunodeficiency 47 |
|
Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Decreased circulating copper... |
OMIM:300972 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c... |
ORPHA:158061 |
Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections, Recurrent... |
OMIM:615468 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased lymphocyte proliferation... |
OMIM:606367 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... |
ORPHA:85435 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Immunodeficiency 25 |
|
Recurrent herpes, Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circula... |
OMIM:610163 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hepatomegaly, Microvesicular hepatic steatosis, Recurrent infec... |
OMIM:618278 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash |
OMIM:609939 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections |
OMIM:619693 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... |
OMIM:619652 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Decreased specific pneumococcal antibody level |
OMIM:617006 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Rheumatoid factor positive, Elevated... |
ORPHA:48435 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto... |
OMIM:603909 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Hepatomegaly, Autoimmune hemolytic anemia, Recurrent viral inf... |
OMIM:102700 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr... |
OMIM:231680 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
C3 Glomerulopathy |
|
Autoimmunity, Paraproteinemia, Elevated circulating creatinine concentration, Recurrent infection... |
ORPHA:329918 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... |
ORPHA:85410 |
Primary Biliary Cholangitis |
|
Autoimmunity, Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia... |
ORPHA:186 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling |
ORPHA:1525 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Rheumatoid factor positive, Recurrent staphylococcal infections... |
OMIM:615816 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Rheumatoid factor positive, Autoimmunity, Increased circulating... |
ORPHA:443811 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper respirato... |
OMIM:615952 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu... |
OMIM:116920 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Autoimmunity, Recurrent pneumonia, Recurrent infections, Hyperhomocystinemia, Decreased circulati... |
OMIM:617780 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,... |
OMIM:604416 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis |
OMIM:231530 |
Igg4-Related Aortitis |
|
Autoimmunity, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l... |
ORPHA:449400 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Omenn Syndrome |
|
Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Recurrent... |
OMIM:603554 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Hypertriglyceridemia, Elevated circulating aspartate a... |
OMIM:619573 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Impaired T cell function, Elevated circulating creat... |
OMIM:614576 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... |
ORPHA:470 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Splen... |
ORPHA:169090 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... |
ORPHA:221139 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Liver kidney microsome type 1 antibody positivity, Antinuclear ant... |
ORPHA:562639 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Subcorneal Pustular Dermatosis |
|
Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomega... |
ORPHA:171 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... |
ORPHA:167 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... |
OMIM:242840 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth... |
ORPHA:85414 |
Immunodeficiency 22 |
|
Autoimmunity, Recurrent upper respiratory tract infections, Decreased circulating total IgM, Decr... |
OMIM:615758 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Recurrent bacterial infections, Splenomegaly, Decreased circulating antibody level |
OMIM:248500 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocellu... |
ORPHA:90062 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:486 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis |
OMIM:617475 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Absent microvilli on... |
OMIM:301000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Sepsis, Hypoalbumi... |
ORPHA:37042 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Cirrhosis, Bone marrow hypocellularity, Hepatic necrosis |
OMIM:127550 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Recurrent infections |
OMIM:612783 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233710 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Elevated circul... |
ORPHA:542323 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233690 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... |
OMIM:618131 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Splenomegaly, Sepsis, Hepatosplenomegaly, Recurrent bacterial infections |
OMIM:612840 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Decreased circulating ... |
ORPHA:51636 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Patent ductus arteriosus, Hyperkalemia, Sepsis,... |
OMIM:617053 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin concentration, De... |
ORPHA:90363 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Neutropenia, Chronic neutropenia, Recurrent infections |
OMIM:258360 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, R... |
OMIM:232220 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-induced platelet a... |
OMIM:608233 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent candida infections, Decreased ser... |
OMIM:201100 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Shwachman-Diamond Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent viral infections, Hypoamylasemia, Sepsis, ... |
ORPHA:811 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... |
ORPHA:100026 |
Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
Autoimmune Polyendocrinopathy Type 4 |
|
Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune antib... |
ORPHA:227990 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Perianal abscess, Leukocytosis, Increased circulating IgE level... |
OMIM:618213 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... |
ORPHA:64744 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:306400 |
Autoimmune Polyendocrinopathy Type 3 |
|
Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune antib... |
ORPHA:227982 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Autoimmunity, Abnormal lymphocyte physiology, Hyperlipidemia, Recurrent... |
ORPHA:1830 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Myasthenia Gravis |
|
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... |
ORPHA:589 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Pancreatitis, Sev... |
ORPHA:544482 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia |
ORPHA:30 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatocellular adenoma, Recurrent bacterial i... |
ORPHA:79259 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... |
ORPHA:206572 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... |
OMIM:186580 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomega... |
OMIM:612541 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thromb... |
OMIM:301074 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614172 |
Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... |
ORPHA:1855 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Neutropenia, Lymphocytosis, Recurrent infections |
ORPHA:1667 |
Thymoma |
|
Myositis, Glomerulonephritis, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Ulce... |
ORPHA:99867 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... |
OMIM:607944 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Congenital Tricuspid Stenosis |
|
Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Sickle Cell Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Recurrent bacterial infections, Choleli... |
OMIM:603903 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... |
ORPHA:244 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Recurrent pneumonia, Decreased mean platelet volume, Recurrent infections, Lymphocytosis, Thrombo... |
OMIM:617718 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... |
ORPHA:79128 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Autoimmunity, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt... |
ORPHA:49041 |
Velocardiofacial Syndrome |
|
Hypocalcemia, Impaired T cell function, Recurrent infections |
OMIM:192430 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Leukocyte Adhesion Deficiency |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent staphylococcal infections... |
ORPHA:2968 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Elevated hepatic transaminase... |
ORPHA:586 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Progressive flexion contractures, Rheumatoid arthritis |
ORPHA:98808 |
Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Hepatomegaly, Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Digeorge Syndrome |
|
Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Recurrent ... |
OMIM:188400 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Kikuchi-Fujimoto Disease |
|
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia |
ORPHA:50918 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Splenomegaly, Sepsis, Anemia, Leukopenia, Lymphocytosis, Recu... |
OMIM:619991 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |