Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... |
OMIM:618944 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczema |
OMIM:147050 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... |
OMIM:308220 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent infections, Recurrent oti... |
OMIM:618982 |
Immunodeficiency 86 |
|
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... |
OMIM:615615 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Increased ... |
OMIM:615767 |
Immunodeficiency 25 |
|
Recurrent candida infections, Increased circulating IgA level, Increased circulating IgG level, R... |
OMIM:610163 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respira... |
ORPHA:277 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... |
ORPHA:217390 |
Candidiasis, Familial, 1 |
|
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Decreased specific pneumococcal ... |
OMIM:615897 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Onychomycosis, Chronic oral candidiasis, Deep dermatophytosis, Meningitis, Chronic tinea infectio... |
OMIM:212050 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Recurrent fungal infections, Chronic oral candidiasis, Decreased... |
OMIM:300400 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616911 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Recurrent bacterial infe... |
OMIM:243700 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Recurrent infections, Thyroiditis |
OMIM:618985 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613494 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Elevated circulating C-reactiv... |
OMIM:619632 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level |
OMIM:242870 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections |
OMIM:615214 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Recurrent fungal infections, Eczematoid dermatitis, Skin rash, Chronic mucocut... |
OMIM:147060 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Immunodeficiency 50 |
|
Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Recurrent respi... |
OMIM:300988 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,... |
OMIM:613501 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Decreased c... |
OMIM:619773 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating IgE level, Recur... |
OMIM:618523 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Reduced delayed hypersensitivity, Increased circulating IgM level, Reduced antigen-specif... |
OMIM:617241 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Recurrent ear infections, Increased circulating I... |
OMIM:615513 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613500 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... |
OMIM:300310 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sk... |
OMIM:619752 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:300636 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... |
ORPHA:169154 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... |
OMIM:613493 |
Cirrhosis, Familial |
|
Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Increased circulating IgG level, Recurrent lower respiratory tract infecti... |
OMIM:619220 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... |
ORPHA:169160 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... |
OMIM:308230 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:613502 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619824 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:612692 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis, Meningitis |
OMIM:618847 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... |
OMIM:137100 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... |
ORPHA:70593 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections |
OMIM:614493 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Severe varicella zoster infection, Decreas... |
OMIM:300853 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule |
OMIM:614328 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Recurrent bronchitis, Pneumonia |
OMIM:312863 |
Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis |
ORPHA:90368 |
Netherton Syndrome |
|
Decreased circulating IgG level, Allergic rhinitis, Recurrent infections, Erythroderma, Increased... |
OMIM:256500 |
Immunodeficiency 48 |
|
Recurrent candida infections, Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Recurre... |
OMIM:269840 |
Immunodeficiency 37 |
|
Recurrent infections, Colitis, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
Immunoglobulin M, Level Of |
|
Meningitis, Decreased circulating total IgM |
OMIM:308250 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Decreased circu... |
OMIM:619510 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:240500 |
Peeling Skin Syndrome 1 |
|
Erythroderma, Increased circulating IgE level |
OMIM:270300 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... |
ORPHA:449400 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:233650 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, Epididymitis, Decreased circulating IgE, Septic arthritis, Decreas... |
OMIM:300755 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:607594 |
Netherton Syndrome |
|
Skin rash, Eczema, Decreased circulating antibody level, Recurrent infections, Erythroderma, Incr... |
ORPHA:634 |
Immunodeficiency 23 |
|
Eczema, Membranoproliferative glomerulonephritis, Increased circulating IgE level, Increased circ... |
OMIM:615816 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Fulminant hepatitis, Decreased circulating total IgM, Cholangitis... |
OMIM:242850 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Ar... |
OMIM:601457 |
Pgm3-Cdg |
|
Sepsis, Eczema, Chronic sinusitis, Bone marrow hypocellularity, Recurrent viral infections, Osteo... |
ORPHA:443811 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Recurrent fungal infections, Inflammatory abnormality of the ski... |
OMIM:102700 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Abnormal circulating IgG level, Decreased circulating total IgM,... |
OMIM:616636 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Recurrent fungal infections, Colitis, Viral hepatitis, Recurrent ... |
OMIM:209920 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Otitis media, Sepsis, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, BCG... |
OMIM:602450 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Recurrent infections |
OMIM:615285 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Severe infection, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma, Increased circu... |
OMIM:304790 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, D... |
ORPHA:276 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Candida esophagitis, Eosinophilic infiltration of the esophagus, ... |
OMIM:618213 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Decreased circulating IgG level, Fulminant... |
OMIM:308240 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... |
OMIM:300291 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Incre... |
ORPHA:2688 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Aspergillosis |
|
Keratitis, Unusual CNS infection, Osteomyelitis, Invasive pulmonary aspergillosis, Sinusitis, Men... |
ORPHA:1163 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody level, Recurrent sin... |
OMIM:616740 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
Reticular Dysgenesis |
|
Lack of T cell function, Sepsis, Impaired T cell function |
OMIM:267500 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Recurrent sinusitis, Decreased circulating antibody level, Recurrent p... |
OMIM:616576 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Chronic otitis media, Recurrent infections, Increased circulati... |
ORPHA:2314 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abse... |
OMIM:615559 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Sepsis, Eczema, Decreased prealbumin level, Pneumonia, Ecze... |
ORPHA:37042 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Recurrent urinary tract infections, Increased circulating IgG... |
OMIM:618495 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... |
OMIM:615207 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Immunodeficiency 96 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Defective T cell proliferation,... |
OMIM:619774 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:301000 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Eczema, Increased circulating IgA level |
OMIM:313900 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Recurrent bacterial infections |
OMIM:202700 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Arthralgia/arthritis |
ORPHA:411593 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Atopic de... |
ORPHA:2902 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... |
OMIM:241600 |
Chilblain Lupus |
|
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, S... |
ORPHA:90280 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Skin rash... |
OMIM:618048 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Decreased lymphocyte apoptosis, Recurrent infections, Recur... |
OMIM:614470 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:616005 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Inflammation of the large intestine, Decreased circulating antibody level, ... |
OMIM:618108 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Pancreatitis, Complement deficiency, Decre... |
ORPHA:449395 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Sepsis, Decrea... |
OMIM:616100 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... |
OMIM:601495 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
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 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Coli... |
ORPHA:3261 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Prostatitis, Complement deficiency, Increased circulating I... |
ORPHA:449432 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Increased inflammatory response, Increased circulating IgM level... |
OMIM:209950 |
Tularemia |
|
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Brain abscess, Men... |
ORPHA:3392 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
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 |
C3 Glomerulopathy |
|
Decreased serum complement C3, Decreased serum complement C4, Membranoproliferative glomeruloneph... |
ORPHA:329918 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... |
ORPHA:48435 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... |
ORPHA:48104 |
Lead Poisoning |
|
Increased circulating IgE level, Tubulointerstitial nephritis, Skin rash, Abnormality of humoral ... |
ORPHA:330015 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... |
OMIM:614034 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis, Pustule |
ORPHA:48377 |
Hypoglossia With Situs Inversus |
|
Polysplenia, Asplenia |
OMIM:612776 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Mirage Syndrome |
|
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia |
OMIM:617053 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... |
ORPHA:508533 |
Schnitzler Syndrome |
|
Increased circulating IgM level, Skin rash, Arthritis |
ORPHA:37748 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... |
OMIM:601859 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Meningitis, Increased circulating IgM le... |
ORPHA:448237 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersens... |
OMIM:242700 |
Trichinellosis |
|
Meningitis, Increased circulating IgE level, Conjunctivitis, Skin rash |
ORPHA:863 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Pustule, ... |
OMIM:615934 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sinusitis, Prostatitis, Elevated circulating C-reactive protein concentration, Pancrea... |
ORPHA:449563 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col... |
ORPHA:555905 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Skin rash, Myositis, Arthritis, Recurrent infect... |
OMIM:617591 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... |
ORPHA:723 |
Adult-Onset Nemaline Myopathy |
|
Mildly elevated creatine kinase, Paraproteinemia |
ORPHA:171442 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Increased... |
OMIM:617388 |
Prolidase Deficiency |
|
Increased circulating antibody level, Eczema, Recurrent pneumonia, Recurrent infections, Crusting... |
OMIM:170100 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Stormorken Syndrome |
|
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Fulminant hepatitis, Sclerosing cholangiti... |
ORPHA:2137 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic fibrosis, Hepatomegaly, Asplenia, Cholestasis |
OMIM:615415 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, ... |
ORPHA:699 |
Congenital Analbuminemia |
|
Increased circulating antibody level, Hypoproteinemia, Increased alpha-globulin, Recurrent lower ... |
ORPHA:86816 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Chronic oral candidiasis, Skin rash, Increased circulating IgD l... |
OMIM:260920 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... |
OMIM:617099 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Nephritis, Increased circulating IgG level, Decreased lymphocyte... |
OMIM:603909 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Sinusitis, Increased circulating IgM level, Pneumonia, Bronchiec... |
OMIM:242860 |
Leishmaniasis |
|
Increased circulating antibody level, Rhinitis, Hypoalbuminemia |
ORPHA:507 |
Boutonneuse Fever |
|
Increased circulating IgM level, Maculopapular exanthema, Increased circulating IgG level, Skin rash |
ORPHA:83313 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Severe infection, Increased circulating IgG level |
ORPHA:206594 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Maculopapular exanthema, Sepsis, Acute pancreatitis, Hepatitis |
ORPHA:319218 |
Angiostrongyliasis |
|
Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... |
ORPHA:74 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Nephritis, Complement deficiency, Monoclonal elevation of circulating IgA, Membr... |
ORPHA:91139 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Decreased circulating IgA level, Colitis, Decreased... |
ORPHA:2442 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... |
OMIM:269200 |
Q Fever |
|
Unusual infection, Increased circulating antibody level, Osteomyelitis, Cryoglobulinemia, Maculop... |
ORPHA:781 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Increased circulating IgA level, Recurrent aphthous stomatitis, Arthritis |
ORPHA:343 |
Lassa Fever |
|
Sepsis, Conjunctivitis, Increased circulating IgM level |
ORPHA:99824 |
Primary Biliary Cholangitis |
|
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Hepatitis, Hypoalbum... |
ORPHA:186 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent bronchopulmonary infections, Nephritis, Sepsis, Recurrent pneumonia, Hypoalbuminemia, I... |
OMIM:617303 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Recurrent infections |
OMIM:616395 |
Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level |
ORPHA:373 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... |
ORPHA:227990 |
Encephalitis Lethargica |
|
Recurrent viral infections, Increased circulating antibody level |
ORPHA:83600 |
Mevalonic Aciduria |
|
Elevated circulating C-reactive protein concentration, Skin rash, Increased circulating IgD level... |
OMIM:610377 |
Cystic Echinococcosis |
|
Unusual infection, Invasive parasitic infection, Membranous nephropathy, Increased circulating an... |
ORPHA:400 |
Rift Valley Fever |
|
Skin rash, Increased circulating IgG level, Severe viral infection, Hepatitis, Uveitis, Increased... |
ORPHA:319251 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... |
ORPHA:227982 |
Right Atrial Isomerism |
|
Polysplenia, Abdominal situs ambiguus, Asplenia |
OMIM:208530 |
Coccidioidomycosis |
|
Unusual CNS infection, Osteomyelitis, Pancreatitis, Folliculitis, Panniculitis, Skin rash, Invasi... |
ORPHA:228123 |
Primary Sjögren Syndrome |
|
Increased circulating antibody level, Chronic active hepatitis, Optic neuritis, Lymphocytic inter... |
ORPHA:289390 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc... |
ORPHA:562639 |
Primary Ciliary Dyskinesia |
|
Polysplenia, Asplenia |
ORPHA:244 |
Sweeney-Cox Syndrome |
|
Asplenia |
OMIM:617746 |
Brucellosis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Orchitis, Arteritis, Endoca... |
ORPHA:1304 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... |
OMIM:256040 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Pancreatitis, Nephritis, Comple... |
ORPHA:449427 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Abdominal situs inversus |
OMIM:619123 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Chronic active hepatitis, Asplenia |
OMIM:240300 |
Viss Syndrome |
|
Chronic gastritis, Decreased circulating IgA level, Eczema, Atopic dermatitis, Increased circulat... |
OMIM:619472 |
Feingold Syndrome 1 |
|
Annular pancreas, Accessory spleen, Polysplenia, Asplenia |
OMIM:164280 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Increased circulating antibody level, Skin rash, At... |
OMIM:615846 |
Tick-Borne Encephalitis |
|
Unusual CNS infection, Elevated circulating C-reactive protein concentration, Myelitis, Increased... |
ORPHA:297 |
Scleromyxedema |
|
Elevated circulating creatine kinase concentration, Paraproteinemia |
ORPHA:167635 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent gastroenteritis, Decreased circulating IgG level, Sepsis, Hypoalbuminemia, Increased ci... |
ORPHA:505248 |
Multiple Myeloma |
|
Increased circulating IgA level, Hyperproteinemia, Decreased circulating antibody level, Increase... |
ORPHA:29073 |
Microgastria-Limb Reduction Defects Association |
|
Absent gallbladder, Splenogonadal fusion, Asplenia, Biliary tract abnormality |
OMIM:156810 |
Insulin-Resistance Syndrome Type B |
|
Decreased serum complement factor B, Increased circulating IgA level, Nephritis, Skin rash, Osteo... |
ORPHA:2298 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Osteoarthritis |
ORPHA:77259 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Absent gallbladder, Asplenia |
ORPHA:210122 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated alpha-fetoprotein, Increased circulating antibody level, Elevated circulating creatine k... |
OMIM:606002 |
Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Asplenia |
ORPHA:99776 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level, Sclerosing cholangitis, Hashimoto thyroiditis, Thyroiditis |
ORPHA:64744 |
Japanese Encephalitis |
|
Increased circulating antibody level, Meningitis, Infectious encephalitis, Increased circulating ... |
ORPHA:79139 |
Al Amyloidosis |
|
Increased circulating antibody level, Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Cysticercosis |
|
Increased circulating antibody level, Iridocyclitis, Infectious encephalitis |
ORPHA:1560 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Myositis, Increased circulating IgG4 level, Tubulointerstitial n... |
ORPHA:79078 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Increased circulating antibody level, Pancreatitis,... |
ORPHA:470 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Alveolar Echinococcosis |
|
Increased circulating antibody level, Cutaneous abscess, Cholangitis |
ORPHA:284 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Iridocyclitis, Inflammation of the large intestine, Arthrit... |
OMIM:181000 |
Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Pancreatitis, Orchitis, Skin rash, Severe infection, Maculo... |
ORPHA:99826 |
Poems Syndrome |
|
Increased circulating antibody level |
ORPHA:2905 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Recurrent respiratory infections |
ORPHA:77261 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
Meckel Syndrome |
|
Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Cystic liver disease, Pancrea... |
ORPHA:564 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating antibody level, Panuveitis, Elevated circulating C-reactive protein concent... |
ORPHA:91500 |
Meckel Syndrome, Type 1 |
|
Splenomegaly, Accessory spleen, Malformation of the hepatic ductal plate, Bile duct proliferation... |
OMIM:249000 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Skin rash, Opportunistic infection, Elevated c... |
ORPHA:99829 |
Primary Sclerosing Cholangitis |
|
Pancreatitis, Polyclonal elevation of IgM, Hepatitis, Uveitis, Hypoalbuminemia, Ulcerative coliti... |
ORPHA:171 |
Crimean-Congo Hemorrhagic Fever |
|
Orchitis, Conjunctivitis, Elevated circulating creatine kinase concentration, Increased circulati... |
ORPHA:99827 |
Gaucher Disease |
|
Increased circulating antibody level, Osteomyelitis, Elevated circulating C-reactive protein conc... |
ORPHA:355 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Biliary atresia, Abdominal situs inversus, Polysplenia, Asplenia |
OMIM:306955 |
Pseudoaminopterin Syndrome |
|
Asplenia |
ORPHA:221120 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Pulmonary lymphangiectasia, Asplenia |
OMIM:265380 |
Tetraamelia Syndrome 1 |
|
Asplenia |
OMIM:273395 |
Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs ambiguus, Asplenia, Abdominal situs inversus |
OMIM:270100 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Asplenia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia |
ORPHA:261552 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
|
OMIM:613955 |