Immunodeficiency 11 |
|
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections |
OMIM:615206 |
Cirrhosis, Familial |
|
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Immunodeficiency 95 |
|
Respiratory distress, Increased circulating IgG3 level, Recurrent viral upper respiratory tract i... |
OMIM:619773 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Asthma, Reduced circulating interleukin 27 concentration, Increased circulating ... |
OMIM:619632 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level, Hematuria |
OMIM:314000 |
Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... |
OMIM:615615 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Recurrent bronchitis |
OMIM:216950 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Recurrent bronchitis, Pneumonia |
OMIM:312863 |
Caspase 8 Deficiency |
|
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary... |
OMIM:607271 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... |
OMIM:613494 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... |
OMIM:615897 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobulinemia, Pneumonia,... |
OMIM:269840 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Secretory IgA deficiency, Chronic intestinal candidiasis |
OMIM:269650 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Recurrent skin infections, Splenomegaly, Inflammation of the... |
OMIM:300635 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczema, Asthma |
OMIM:147050 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Increased circulating IgG level, Recurrent lower respiratory tract infe... |
OMIM:619220 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent otiti... |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammation of the large inte... |
OMIM:615767 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Decreased circulating IgE, Decreased c... |
OMIM:308230 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver |
OMIM:235550 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Complement Component C1S Deficiency |
|
Hepatitis, Abnormality of complement system, Hashimoto thyroiditis |
OMIM:613783 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... |
OMIM:607594 |
Complement Component 4B Deficiency |
|
Asthma, Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent ... |
OMIM:614379 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... |
OMIM:613500 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... |
OMIM:300400 |
Immunodeficiency 50 |
|
Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Recurrent respi... |
OMIM:300988 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... |
OMIM:615207 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent respiratory... |
OMIM:613501 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Immunodeficiency 61 |
|
Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer... |
OMIM:300310 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Recurrent urinary tract... |
OMIM:618495 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... |
OMIM:618969 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... |
OMIM:609529 |
Immunoglobulin A Deficiency 1 |
|
Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract... |
OMIM:137100 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent ... |
OMIM:209920 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atop... |
OMIM:243700 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Recurrent respiratory infections |
OMIM:613495 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating antibody level, Pneumonia |
OMIM:614069 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ... |
OMIM:619281 |
Masp2 Deficiency |
|
Complement deficiency, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... |
OMIM:616100 |
Immunodeficiency 27A |
|
Splenomegaly, Anorexia, Hepatosplenomegaly, Diarrhea, Increased circulating IgG level, Abnormal b... |
OMIM:209950 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, F... |
ORPHA:2137 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... |
OMIM:613496 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, Diarrhea, Arthritis, Panhypogammaglobulinemia, Pneumonia, Conjun... |
OMIM:601457 |
Simple Cryoglobulinemia |
|
Complement deficiency, Monoclonal elevation of circulating IgA, Proteinuria, Abnormal lung morpho... |
ORPHA:91139 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... |
OMIM:617006 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Recurrent skin infections, Diarrhea, Chronic ... |
ORPHA:33110 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Recurrent upper and low... |
ORPHA:70593 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col... |
ORPHA:555905 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Increased circulating IgA level, Nephritis, Hepatomegaly, Splenomegaly, Incre... |
OMIM:603909 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respira... |
ORPHA:277 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Alveolar cell carcinoma, Cirrhosis, Cough, Decreased DLCO, ... |
OMIM:178500 |
Whim Syndrome 1 |
|
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... |
OMIM:193670 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Respiratory tract infection, Decreased circulating antibody level, Chronic di... |
OMIM:615592 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... |
OMIM:618048 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhea, Arthritis, ... |
ORPHA:343 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Elevated circulating alanine aminotransferase concentration, Dec... |
OMIM:616636 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Dec... |
OMIM:601859 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Abdominal distention, Elevated circulating alkaline phosphatase ... |
ORPHA:186 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Hepatitis |
OMIM:219400 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice |
ORPHA:60 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease |
OMIM:161900 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch... |
ORPHA:217390 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Feeding difficulties, Recurrent skin infections, Recurrent lower... |
OMIM:617744 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Uve... |
OMIM:617388 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Diarrhea, Chronic lung disease, Inflammation of the large intestine, Decrea... |
OMIM:618108 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:247630 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Decreased circulating total IgM, Recurrent upper respiratory tract infections, Re... |
OMIM:615139 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Diarrhea, Chronic muco... |
OMIM:608971 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... |
ORPHA:276 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:233650 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent skin infectio... |
OMIM:619752 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
Boutonneuse Fever |
|
Skin rash, Abdominal pain, Maculopapular exanthema, Diarrhea, Increased circulating IgG level, El... |
ORPHA:83313 |
Immunodeficiency 96 |
|
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Skin rash, Abdominal pain, Diarrhea, Increased circulating IgM l... |
OMIM:617099 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Tube feeding, D... |
OMIM:619510 |
Immunodeficiency 37 |
|
Colitis, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Methylmalonic aciduria, Decreas... |
ORPHA:859 |
Pgm3-Cdg |
|
Eczema, Chronic sinusitis, Bone marrow hypocellularity, Lactose intolerance, Osteomyelitis, Incre... |
ORPHA:443811 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent respiratory infections |
OMIM:615214 |
Immunodeficiency, Common Variable, 10 |
|
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia lambli... |
OMIM:615577 |
Aspergillosis |
|
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... |
ORPHA:1163 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:619824 |
Immunodeficiency 35 |
|
Increased circulating IgE level, Recurrent respiratory infections |
OMIM:611521 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent skin infections, Recurrent sinusitis, Decreased circulat... |
OMIM:616576 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level |
OMIM:618973 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Decreased circulatin... |
OMIM:619924 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Abdominal pain, Splenomegal... |
OMIM:260920 |
Immune Deficiency Disease |
|
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Decreased CD69 upregulation ... |
OMIM:300853 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Celiac disease, Thyroiditis |
OMIM:618985 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Melena, Abdominal pain, Maculopapular exanthema, Diarrhea, ... |
ORPHA:319218 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Cough, Wheezing, Recurrent aspiration pneumonia, Bronchitis, Malnutritio... |
ORPHA:930 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eczema, Chronic diarrhea, Recurrent otitis media, Bronchiectasis, Increased circulatin... |
OMIM:618523 |
X-Linked Lymphoproliferative Disease |
|
Hepatic failure, Myocarditis, Increased proportion of CD25+ mast cells, Pulmonary granulomatosis,... |
ORPHA:2442 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans, Feeding difficulties, Eczema, Reduced delayed hypersensitivity, Increas... |
OMIM:617241 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... |
ORPHA:562639 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Pustule, Skin rash, Increased circulating IgG level, Myositis, T... |
OMIM:615934 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:618987 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Asthma, Abdominal pain, Complement deficiency, Increased ci... |
ORPHA:449400 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Chronic otitis media, Arthritis, Hepatitis, A... |
ORPHA:47 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased... |
ORPHA:90003 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Increased circulating antibody level, Recurrent streptococcus pneumoniae ... |
ORPHA:48435 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Epididymitis, Decreased circulating IgE, Septic arthritis, Decreased circu... |
OMIM:300755 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... |
ORPHA:572 |
Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent gastroenteritis, Decreased circulating IgA level, Recurrent upper and lower respiratory... |
ORPHA:275 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Absent isohemagglutinin l... |
OMIM:615559 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Melena, Recurrent otitis media, Increased ... |
OMIM:301000 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Splenomegaly, Respiratory tract infection, Recurrent otitis media |
ORPHA:444463 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Complement deficiency, Decreased serum complement C4, L... |
ORPHA:449395 |
X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder, Decreased circulating IgG2 level, Recurrent respiratory in... |
ORPHA:2571 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis... |
OMIM:619705 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tra... |
OMIM:608184 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgE level, Eczema, Increased circulating IgA level |
OMIM:313900 |
Complement Factor I Deficiency |
|
Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser... |
OMIM:610984 |
Chilblain Lupus |
|
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, A... |
ORPHA:90280 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... |
ORPHA:329918 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Villous atrophy, Chronic diarrhea, Eryth... |
OMIM:304790 |
Angiostrongyliasis |
|
Constipation, Increased circulating IgA level, Abdominal pain, Projectile vomiting, Increased cir... |
ORPHA:74 |
Immunodeficiency 43 |
|
Bronchiectasis, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:241600 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Hepatic failure, Splenomegaly, Fulminant hepatitis... |
OMIM:308240 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Diarrhea, Recurrent urinary tract infect... |
OMIM:307200 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... |
ORPHA:723 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... |
OMIM:600802 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Hepatomegaly, Hypersplenism, Uveitis, Bone marrow hypocellularity, Increased circulati... |
ORPHA:3261 |
Immunodeficiency 58 |
|
Eczema, Helicobacter pylori infection, Decreased specific antibody response to vaccination, Colit... |
OMIM:618131 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections |
OMIM:618847 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Respiratory distress, Gastritis, Eczema, Vomiting, Pneumonia, Malabsor... |
ORPHA:37042 |
Legionnaires Disease |
|
Pancreatitis, Diarrhea, Hematuria, Myocarditis, Abnormal pleura morphology, Proteinuria, Bone mar... |
ORPHA:549 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Ile... |
OMIM:243150 |
Multiple Myeloma |
|
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Nephropathy, Increased circula... |
ORPHA:29073 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Hepatic failu... |
OMIM:613812 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections, Abnormal... |
OMIM:613101 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Decreased circulating Ig... |
OMIM:614700 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating interleukin 6 concentration, Hepatomegaly, Nephritis, Elevated circulating ... |
OMIM:614034 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Cutaneo... |
OMIM:147060 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Eczema, Defective T cell proliferation |
OMIM:614493 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... |
ORPHA:542323 |
Ciliary Dyskinesia, Primary, 9 |
|
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... |
OMIM:612444 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Arthralgia/arthritis |
ORPHA:411593 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... |
ORPHA:35078 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Feeding difficulties, Aspiration pneumonia, Nasogastric tube feeding in inf... |
ORPHA:141152 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis, Increased circu... |
OMIM:614328 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections |
OMIM:226990 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Circulating immune complexes, Abdominal pain, Hepatomegaly, Splenomegaly, Cryogl... |
ORPHA:91138 |
Immunodeficiency 52 |
|
Splenomegaly, Chronic lung disease, Decreased circulating antibody level, Recurrent pneumonia, Br... |
OMIM:617514 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Sinusitis, Malabsorption, Chronic bronchitis, Diarrhea, Increase... |
OMIM:242860 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Decreased circulating antibody level, Chronic diarrhea, Recurrent sinop... |
OMIM:616740 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff... |
ORPHA:411696 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... |
ORPHA:100024 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, P... |
ORPHA:781 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Recurrent upper r... |
OMIM:616005 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... |
ORPHA:1303 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Cystic Fibrosis |
|
Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased circulating antibody le... |
ORPHA:586 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... |
OMIM:618986 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocardi... |
ORPHA:139402 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Panc... |
OMIM:618213 |
Adult-Onset Still Disease |
|
Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic t... |
ORPHA:829 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... |
ORPHA:331206 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Asthma, Atopic dermatitis, Pneumonia |
OMIM:617638 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... |
OMIM:162000 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Abnormality of the kidney, Increased circulating IgG le... |
ORPHA:284227 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Enterocolitis, Abdomin... |
OMIM:619802 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:618806 |
Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Apnea, Colitis, Decreased circulating IgG level, Eczema, Diarrhea, Inflammatio... |
OMIM:608809 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Constipation, Gastroesophageal reflux, Feeding difficulties in i... |
DECIPHER:45 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Immunodeficiency 23 |
|
Asthma, Eczema, Membranoproliferative glomerulonephritis, Increased circulating IgG level, Esopha... |
OMIM:615816 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... |
OMIM:613490 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Pyloric stenosis, Hepatitis, Decreased circulating antibody level, Bo... |
ORPHA:381 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Arthritis, Increased circulating IgM level |
ORPHA:37748 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Decreased circulating IgG2 level |
OMIM:300076 |
Tularemia |
|
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... |
ORPHA:3392 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Macronod... |
OMIM:215250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine |
OMIM:616868 |
Avian Influenza |
|
Respiratory distress, Diarrhea, Vomiting, Pneumonia, Hypoxemia, Respiratory failure, Myelitis, In... |
ORPHA:454836 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... |
ORPHA:48104 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Asthma, Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusitis, Hepatom... |
OMIM:102700 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Pulmonary fibrosis, Decreased c... |
OMIM:611926 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... |
OMIM:214950 |
Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis |
ORPHA:90368 |
Common Variable Immunodeficiency |
|
Anal atresia, Otitis media, Gastrointestinal stroma tumor, Splenomegaly, Chronic otitis media, El... |
ORPHA:1572 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Reduced forced expiratory volume in one second, Decreased circulating IgA level, Gastroesophageal... |
OMIM:613385 |
Selective Igm Deficiency |
|
Keratitis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomach cancer, Rheum... |
ORPHA:331235 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Diarrhea, Vomiting, Pneumonia, Colitis, Osteomyelitis, Splenomegaly, Decreased circula... |
OMIM:619381 |
Peeling Skin Syndrome 1 |
|
Erythroderma, Asthma, Increased circulating IgE level |
OMIM:270300 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... |
ORPHA:171 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Desquamative interstitial pneumonitis, Eczema, Interstitial pn... |
OMIM:615952 |
Reticular Dysgenesis |
|
Malabsorption, Skin rash, Diarrhea, Chronic otitis media, Decreased circulating antibody level, R... |
ORPHA:33355 |
Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Eczematoid dermatitis, Chro... |
ORPHA:83471 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly |
OMIM:615285 |
Complement Factor B Deficiency |
|
Peritonitis, Decreased serum complement factor B, Pneumonia |
OMIM:615561 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Elevated circulating alkaline ph... |
ORPHA:39812 |
Insulin-Resistance Syndrome Type B |
|
Decreased serum complement factor B, Nephritis, Increased circulating IgA level, Skin rash, Osteo... |
ORPHA:2298 |
Brucellosis |
|
Hepatomegaly, Vomiting, Myocarditis, Epididymitis, Pulmonary granulomatosis, Pneumonia, Knee oste... |
ORPHA:1304 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulating antibody level, Recurrent pn... |
OMIM:601495 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Atopic dermatitis, Crackles, Abnormality of the gastrointestinal tra... |
ORPHA:2902 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Acute infectious pneumon... |
ORPHA:31202 |
Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:615451 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Decreased serum complement C4, Diarrhea, Vomiting, Hematuria, Proteinuria, Da... |
ORPHA:93552 |
Netherton Syndrome |
|
Asthma, Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villous atrophy, ... |
OMIM:256500 |
Young Syndrome |
|
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... |
OMIM:279000 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Circulating immune complexes, Anterior uveitis, Reversible renal failure, Uveitis, Gl... |
OMIM:607665 |
Netherton Syndrome |
|
Asthma, Malabsorption, Aminoaciduria, Skin rash, Eczema, Decreased circulating antibody level, Ec... |
ORPHA:634 |
Trichothiodystrophy 3, Photosensitive |
|
Pyloric stenosis, Meckel diverticulum, Increased circulating IgA level, Feeding difficulties |
OMIM:616395 |
Rift Valley Fever |
|
Melena, Hematemesis, Skin rash, Anorexia, Increased circulating IgG level, Hematuria, Elevated he... |
ORPHA:319251 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Hepatomegaly, Abdominal pain, Diarrhea, Pulmonary embolism, Vomiting, Intestinal o... |
OMIM:226300 |
Liver Failure, Infantile, Transient |
|
Abdominal distention, Decreased circulating IgG level, Hepatomegaly, Acute hepatic failure, Micro... |
OMIM:613070 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Prostatitis, Abnormal pancreas morphology, Complement defic... |
ORPHA:449432 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Steatorrhea, Hepatic failure, Splenomegaly, Cirrhosis, Diarrh... |
OMIM:607765 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections |
ORPHA:3347 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Hepatosplenomegaly, Reduc... |
OMIM:242700 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... |
OMIM:609057 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Hypersplenism, Splenomegaly |
OMIM:183350 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Membranoproliferative glo... |
OMIM:619858 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Nephrotic syndrome, Splenomegaly, Eczema, Lymphadenitis, Hepatosplenomegaly, Acu... |
OMIM:618935 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Eczema, Decreased circulating antibody level, Recurrent respiratory ... |
OMIM:618116 |
African Iron Overload |
|
Abnormal pancreas morphology, Viral hepatitis, Hepatomegaly, Micronodular cirrhosis, Peritonitis,... |
ORPHA:139507 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis, Recurrent respiratory infections |
ORPHA:363523 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp... |
OMIM:615294 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Nausea, Hashim... |
OMIM:618549 |
Ciliary Dyskinesia, Primary, 39 |
|
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... |
OMIM:618254 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... |
ORPHA:79303 |
Autoimmune Polyendocrinopathy Type 4 |
|
Iridocyclitis, Rheumatoid arthritis, Xerostomia, Abnormal pulmonary interstitial morphology, Hepa... |
ORPHA:227990 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Abdominal symptom, Cholestatic liver disease, Elevated circ... |
ORPHA:400 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Abnormal intestine morphology, Sec... |
OMIM:600351 |
Systemic Lupus Erythematosus |
|
Nephritis, Arthritis, Pleuritis, Lupus nephritis, Malar rash, Pericarditis |
OMIM:152700 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Abnormality of the urinary system, Respiratory failure requiring assisted v... |
ORPHA:90117 |
Cholesterol Pneumonia |
|
Cough, Pneumonia, Tachypnea |
OMIM:215030 |
Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:615504 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... |
OMIM:618261 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Lymphadenitis, Increased circulating I... |
ORPHA:449427 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Prolidase Deficiency |
|
Increased circulating antibody level, Asthma, Hepatomegaly, Splenomegaly, Eczema, Elevated circul... |
OMIM:170100 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... |
OMIM:616726 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenom... |
OMIM:617303 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Decreased lymphocyte apoptosis,... |
OMIM:614470 |
Lassa Fever |
|
Jaundice, Abdominal pain, Diarrhea, Cough, Oliguria, Increased circulating IgM level, Dysphagia, ... |
ORPHA:99824 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis... |
ORPHA:36234 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis, Pustule |
ORPHA:48377 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Otitis media, D... |
ORPHA:420741 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Villous atrophy, ... |
OMIM:614602 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
ORPHA:2643 |
Caffey Disease |
|
Feeding difficulties in infancy, Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormal... |
ORPHA:2552 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... |
OMIM:256040 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B... |
OMIM:608644 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Constipation, Decreased circulating IgG level, Feeding difficult... |
OMIM:617062 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity |
OMIM:607624 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Eczema, Vomiting, Decreased circulating antibody level, Recurrent pneumonia, Septic arthritis |
OMIM:617780 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Aminoacidu... |
OMIM:613404 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Otitis media, Splenomegaly, Recurrent upper respiratory tract infections, Panhypoga... |
OMIM:602450 |
Cleft Velum |
|
Nasal regurgitation, Aspiration pneumonia, Poor suck, Recurrent otitis media, Oral-pharyngeal dys... |
ORPHA:99772 |
Autoimmune Polyendocrinopathy Type 3 |
|
Iridocyclitis, Rheumatoid arthritis, Xerostomia, Abnormal pulmonary interstitial morphology, Hepa... |
ORPHA:227982 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... |
ORPHA:911 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Pneumonia, Lymphadenitis |
ORPHA:319552 |
Wilson Disease |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Arthritis, Elevated hepatic transam... |
ORPHA:905 |
Lambert Syndrome |
|
Intrahepatic biliary atresia, Hypospadias, Cholestasis, Decreased circulating antibody level, Jau... |
ORPHA:1296 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Decreased circulating IgG level, Intestinal lymphangiectasia |
OMIM:152800 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections |
OMIM:253240 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Increased circulating IgM level, Helicobacter pylori infection |
ORPHA:2688 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Xerostomia, Myositis, Increased circulating IgG4 level, Tubuloin... |
ORPHA:79078 |
Good Syndrome |
|
Sinusitis, Recurrent skin infections, Diarrhea, Recurrent urinary tract infections, Cough, Dyspha... |
ORPHA:169105 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia |
ORPHA:97244 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophageal stenosis |
OMIM:615190 |
Primary Sjögren Syndrome |
|
Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C... |
ORPHA:289390 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media |
OMIM:618449 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Bronchitis, Recurrent pneumonia, Esophagitis, Pneumonia, Upp... |
ORPHA:3348 |
Idiopathic Pulmonary Fibrosis |
|
Gastroesophageal reflux, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... |
ORPHA:2032 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... |
OMIM:611884 |
Fechtner syndrome |
|
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:153640 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Splenomegaly, Hepatosple... |
OMIM:615122 |
Myh9-Related Disease |
|
Nephritis, Nephropathy, Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal in... |
ORPHA:182050 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Thyroiditis, Inflammatory abnormality of the skin, Enterocolitis, Eczema, Diarrhea, Hepatosplenom... |
ORPHA:391487 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Decreased circu... |
OMIM:618042 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Pulmonary fibrosis, Recurrent respiratory infections, He... |
ORPHA:79124 |
Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:615505 |
Zygomycosis |
|
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Elevated hepatic tran... |
ORPHA:507 |
Isolated Agammaglobulinemia |
|
Sinusitis, Malabsorption, Skin rash, Otitis media, Diarrhea, Arthritis, Pneumonia, Inflammatory a... |
ORPHA:229717 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Cough, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, Bronch... |
OMIM:619468 |
Alport Syndrome |
|
Glomerular C3 deposition, Vomiting, Hematuria, Thickened glomerular basement membrane, Proteinuri... |
ORPHA:63 |
Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Tracheobronchomegaly |
|
Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:275300 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:251190 |
Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Reduced vital capacity, Feeding difficulties, Respiratory insufficiency ... |
ORPHA:171442 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Abnormality of the small intestine, Dy... |
ORPHA:100025 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Elevated circulating alkalin... |
OMIM:614576 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating antibody level, Bloody diarrhea, Nephrotic syndrome, Hepatomegaly, Hemateme... |
OMIM:615846 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ... |
OMIM:300991 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:275350 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Osteomyelitis, Abnormal jejunum morphology, Pleural empyema, E... |
ORPHA:449280 |
Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Coccidioidomycosis |
|
Respiratory distress, Pancreatitis, Pneumonia, Pericarditis, Osteomyelitis, Peritonitis, Increase... |
ORPHA:228123 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Otitis media, Splenomegaly,... |
OMIM:613179 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... |
OMIM:619466 |
Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Vomiting, Arthritis, Infectious encephalitis, Incre... |
ORPHA:448237 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... |
OMIM:619445 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respirato... |
OMIM:612649 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating aspartate aminotransferase concentration, Elevated serum transaminases durin... |
OMIM:611182 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Porphyrinuria, Viral hepatitis, Periportal fibrosis, Abnorma... |
ORPHA:101330 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Hepatomegaly, Skin rash, Splenomegaly, Myositis,... |
OMIM:617591 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, C... |
OMIM:615607 |
Immunodeficiency 59 And Hypoglycemia |
|
Malabsorption, Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa... |
OMIM:233600 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Xanthinuria, Type I |
|
Xanthinuria, Hydronephrosis, Pyelonephritis, Reduced xanthine dehydrogenase level, Xanthine nephr... |
OMIM:278300 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Retroperitoneal fi... |
ORPHA:64744 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... |
OMIM:615862 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, I... |
OMIM:208085 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... |
OMIM:615067 |
Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... |
OMIM:619611 |
Neuronal Intestinal Pseudoobstruction |
|
Malabsorption, Decreased circulating antibody level |
ORPHA:99811 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Decreased circulating total IgA, D... |
OMIM:300972 |
Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:615500 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Hepatitis |
ORPHA:848 |
Hereditary Folate Malabsorption |
|
Cheilitis, Gastroesophageal reflux, Anorexia, Diarrhea, Recurrent urinary tract infections, Decre... |
ORPHA:90045 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections |
OMIM:615872 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased circulating anti... |
OMIM:619846 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Impaired neutrophil chemotaxis, Reduce... |
OMIM:619374 |
Whim Syndrome |
|
Sinusitis, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections, Severe peri... |
ORPHA:51636 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Malabsorption, Intestinal bleeding, Intussusception, Cirrhosis, ... |
ORPHA:90363 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... |
OMIM:612650 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent lower r... |
OMIM:619446 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Myocarditis, Pneumonia, Decreased urine outpu... |
ORPHA:544482 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function, Recurrent respiratory infection... |
ORPHA:2585 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent skin infections, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis, Recurren... |
OMIM:618282 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Otitis media, Neonatal respiratory distress, Wheezing, Cough, Chronic sinusit... |
OMIM:613807 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Feeding difficulties, Recurrent aspiration pneumonia, Intermittent diarr... |
OMIM:619971 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Otitis media, Stomach cancer, Uveitis, Pneumonia, Gastrosto... |
ORPHA:125 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec... |
OMIM:612301 |
Immunodeficiency 75 |
|
Bronchiectasis, Hepatosplenomegaly, Recurrent respiratory infections |
OMIM:619126 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Abdominal ... |
ORPHA:90362 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:608647 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Nasogastric tube feeding, Neonatal respiratory distress |
OMIM:619057 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media |
OMIM:620032 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Pyelonephritis, Unilateral renal atrophy, Nephritis, Renal dysplasia |
OMIM:314300 |
Relapsing Polychondritis |
|
Keratitis, Hematuria, Myocarditis, Uveitis, Proteinuria, Anteriorly placed anus, Pericarditis, In... |
ORPHA:728 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Hepatomegaly, Uveitis, Increased circulating antibody level, Splenomegaly, Inflamm... |
OMIM:181000 |
Al Amyloidosis |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Renal interstitial amyloid... |
ORPHA:85443 |
Thymic Tumor |
|
Cough, Dysgammaglobulinemia, Dysphagia, Dyspnea, Pericarditis |
ORPHA:100100 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Steatorrhea, Abnormal renal tubule morphology, Cholestasis, Hepatitis,... |
ORPHA:440713 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Pneumonia |
ORPHA:464370 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transaminase, Tubulointerstitial nephri... |
OMIM:614817 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Restrictive ventilatory defect, P... |
OMIM:610910 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Stomatitis, Decreased circulating an... |
OMIM:613011 |
Thymoma |
|
Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of the gastrointestinal tract, Myo... |
ORPHA:99867 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegal... |
OMIM:612387 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Skin rash, Recurrent urinary tract infections, Hematuria, Cough, Feeding difficulties ... |
ORPHA:1334 |
Ciliary Dyskinesia, Primary, 16 |
|
Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Ab... |
OMIM:614017 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Panuveitis, Decreased glomerular filtration rate, Posterior uveitis,... |
ORPHA:91500 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis |
OMIM:618801 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Recurrent ... |
OMIM:301078 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... |
OMIM:604571 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Neonatal respiratory distress, Cough, Wheezing, Chronic sinusitis, Recurrent ... |
OMIM:613808 |
Alstrom Syndrome |
|
Asthma, Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Elevated hepatic transam... |
OMIM:203800 |
Alveolar Echinococcosis |
|
Abnormality of bladder morphology, Increased circulating antibody level, Decreased liver function... |
ORPHA:284 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduc... |
OMIM:617091 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor |
ORPHA:2375 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Poor suck, Respiratory failure requiring assisted ventilation, Feeding diff... |
ORPHA:596 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Erythroderma |
ORPHA:3162 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Immunodeficiency 62 |
|
Bronchiectasis |
OMIM:618459 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
Tick-Borne Encephalitis |
|
Anorexia, Myelitis, Vomiting, Increased circulating IgG level, Abnormality of serum cytokine leve... |
ORPHA:297 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level, Hypospadias |
OMIM:616910 |
Vici Syndrome |
|
Decreased circulating IgG level, Renal tubular acidosis, Feeding difficulties, Feeding difficulti... |
ORPHA:1493 |
Lichen Planopilaris |
|
Hepatitis, Abnormal intestine morphology |
ORPHA:525 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cirrh... |
ORPHA:77259 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hepatomegaly, Hemoperitoneum, Hepatic failure, Hemothorax, Diarrhea, Hematuria, Myocardit... |
ORPHA:99827 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic rhinitis, Recurre... |
OMIM:618699 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... |
ORPHA:79095 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:610247 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Abnormality of the kidney, Neoplasm of... |
ORPHA:449563 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Hepatic failure, Myocarditis, Cholestasis, Hepatitis, Infectious... |
ORPHA:292 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level, Recurrent respiratory infections |
ORPHA:1006 |
Cd8 Deficiency, Familial |
|
Bronchiectasis, Recurrent respiratory infections |
OMIM:608957 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Hepatomegaly, Episodic vomiting, Protein avoidance, Acute hepatitis |
OMIM:238970 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Urethritis, Vomiting, Myocarditis, Cho... |
ORPHA:810 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Hepatitis, Jaundice |
OMIM:194380 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Chronic lung disease, Hepatitis, Hypersplen... |
ORPHA:228426 |
Lead Poisoning |
|
Abdominal cramps, Renal tubular dysfunction, Chronic kidney disease, Asthma, Constipation, Abdomi... |
ORPHA:330015 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Decreased circulating IgA level, Constipation, Hepatomegaly, Feeding difficulties, Splenom... |
OMIM:613327 |
Familial Mediterranean Fever |
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Crohn's disease, Nephrotic syndrome, Orchitis, Episodic abdominal pain, Abdominal pain, Hepatomeg... |
OMIM:249100 |
Autosomal Dominant Hyper-Ige Syndrome |
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Osteomyelitis, Skin rash, Eczema, Chronic otitis media, Cough, Increased circulating IgE level, R... |
ORPHA:2314 |
Ciliary Dyskinesia, Primary, 38 |
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Chronic otitis media, Cough, Chronic sinusitis, Neonatal respiratory distress, Bronchiectasis, Rh... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 13 |
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Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... |
OMIM:613193 |
Congenital Disorder Of Glycosylation, Type Ia |
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Decreased circulating IgA level, Nephrotic syndrome, Decreased circulating IgG level, Hepatomegal... |
OMIM:212065 |
Immunodeficiency, Common Variable, 13 |
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Decreased circulating antibody level |
OMIM:616873 |
Bone Marrow Failure Syndrome 5 |
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Decreased circulating antibody level |
OMIM:618165 |
Alg12-Cdg |
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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Gas... |
ORPHA:79324 |
Ciliary Dyskinesia, Primary, 30 |
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Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
Celiac Disease, Susceptibility To, 1 |
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Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steatorrhea, Eczema, Diarr... |
OMIM:212750 |
Hemorrhagic Fever-Renal Syndrome |
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Respiratory distress, Melena, Decreased glomerular filtration rate, Diarrh |