Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Candidiasis, Familial, 4 |
|
Recurrent vulvovaginal candidiasis, Onychomycosis |
OMIM:613108 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia |
OMIM:613500 |
Immunodeficiency 53 |
|
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections |
OMIM:617585 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Monocyte and dendritic cell deficiency, autosomal recessive |
|
Recurrent infections |
OMIM:614894 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... |
OMIM:611521 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Candidiasis, Familial, 6 |
|
Chronic mucocutaneous candidiasis |
OMIM:613956 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Tuftsin Deficiency |
|
Recurrent infections |
OMIM:191150 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... |
OMIM:613501 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
Masp2 Deficiency |
|
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... |
ORPHA:90283 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency 32A |
|
Recurrent infections |
OMIM:614893 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Frequen... |
OMIM:300310 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... |
OMIM:612692 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis, Complement deficiency |
OMIM:216950 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... |
OMIM:613502 |
Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... |
OMIM:605258 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Complement Component C1S Deficiency |
|
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis |
OMIM:613783 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, Recurrent otitis media, Inc... |
OMIM:619220 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency 64 |
|
Anti-thyroid peroxidase antibody positivity, Defective T cell proliferation, Bronchiectasis, Incr... |
OMIM:618534 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer... |
OMIM:613652 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Rheumatoid fact... |
OMIM:619632 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Herpes simplex encephalitis, Recurrent herpes |
OMIM:610551 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... |
ORPHA:319552 |
Autoimmune Lymphoproliferative Syndrome |
|
Platelet antibody positive, Decreased lymphocyte apoptosis, Increased circulating IgA level, Neut... |
OMIM:601859 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... |
OMIM:618944 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis, Pneumonia, Autoimmune hemolytic anemia |
OMIM:247800 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmunity, Recurrent otitis media, Increased circulating antibody level, Diarrhea, Autoimmune ... |
OMIM:618495 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections |
OMIM:617014 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level, Rheumatoid arthritis, Antinuclear antibody positivity, Syst... |
OMIM:178610 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... |
OMIM:608106 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Rheumatoi... |
ORPHA:90280 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Nephritis |
OMIM:614420 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:243700 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgG le... |
OMIM:618982 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, ... |
OMIM:617006 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Platelet antibody positive, Decreased lymphocyte apoptosis, Increased circulating IgA level, Neut... |
OMIM:603909 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:242850 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:613779 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity,... |
ORPHA:411593 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... |
OMIM:613493 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... |
OMIM:618987 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia |
OMIM:312863 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... |
OMIM:617765 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Mucoid diarrhea, Decreased circulating IgG level, Increased ... |
OMIM:615767 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Autoimmunity, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil antibody positivity, ... |
ORPHA:2137 |
Immunodeficiency 27A |
|
Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Rheumatoid factor positive,... |
OMIM:209950 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level |
OMIM:162700 |
Cirrhosis, Familial |
|
Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Igg4-Related Aortitis |
|
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, C... |
ORPHA:449400 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection |
OMIM:300636 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections |
OMIM:615978 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decrease... |
OMIM:240500 |
Severe Combined Immunodeficiency, X-Linked |
|
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Reduced natural killer cell activ... |
OMIM:300400 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Recurrent streptococcal infections |
OMIM:607676 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... |
OMIM:606843 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... |
OMIM:618394 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased c... |
OMIM:607594 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmune thrombo... |
ORPHA:444463 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent enteroviral infections, Recurre... |
OMIM:601495 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... |
OMIM:616100 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... |
OMIM:600802 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Antimitochon... |
ORPHA:562639 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Decreased circulating IgA level, Reduced natural killer cell... |
OMIM:619281 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... |
OMIM:618969 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Infectious encephalitis, Recurrent protozoan infections, Recurren... |
OMIM:209920 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Autoimmune thro... |
OMIM:614470 |
Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent viral infections, C... |
ORPHA:275 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... |
OMIM:617388 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... |
ORPHA:169154 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustule, Myositis, Increased circulating IgA level, Increased circulating IgG level, Rheumatoid f... |
OMIM:615934 |
Complement Component 4A Deficiency |
|
Decreased serum complement C4, Reduced hemolytic complement activity, Systemic lupus erythematosu... |
OMIM:614380 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circulating Ig... |
OMIM:617241 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency, Common Variable, 10 |
|
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Decreased circulating IgA l... |
OMIM:615577 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... |
OMIM:618108 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent infections, Helicobacter p... |
ORPHA:2688 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Pneumonia, Protracted diarrhea, Decreased circulat... |
ORPHA:169160 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Decreased circulating IgA level, Abnormal immunoglobulin level, Decreased circulating ... |
ORPHA:276 |
Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Chroni... |
ORPHA:83471 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Recurrent aphthous stomatitis, Neutropenia in presence of anti-neutropil antibodies... |
ORPHA:3261 |
Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Decreased serum complement C4, Reduced natural killer cell activity, Membranous nep... |
OMIM:615559 |
Linear Iga Dermatosis |
|
Autoimmunity, Inflammation of the large intestine |
ORPHA:46488 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease |
OMIM:609536 |
Boutonneuse Fever |
|
Nausea, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema... |
ORPHA:83313 |
Pgm3-Cdg |
|
Autoimmunity, Eczema, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media,... |
ORPHA:443811 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Glomerulonephritis, Complete or near-complete abs... |
OMIM:613496 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis |
OMIM:314000 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Oligoarthritis, Knee osteoarthritis, Uveitis, Rheu... |
ORPHA:85410 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Autoimmunity, Eczema, Vomiting, Decreased circulating antibody level, Septic arthritis, Recurrent... |
OMIM:617780 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Autoimmunity, Lack of T cell function, Neutropenia in presence of anti-neutropil antib... |
ORPHA:572 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Nephritis, Systemic lupus erythematosus, Arthritis, Malar rash, An... |
OMIM:152700 |
Immunodeficiency 31C |
|
Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Diarrhea, Autoimmune hemolytic anemia |
OMIM:614162 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency 92 |
|
Cholangitis, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Esophag... |
OMIM:619652 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib... |
ORPHA:555905 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Monoclonal immunoglobulin M proteinemia, Nephritis, Arthritis, Rhe... |
ORPHA:91139 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
ORPHA:169090 |
Complement Factor I Deficiency |
|
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... |
OMIM:610984 |
Immunodeficiency 36 |
|
Chronic diarrhea, Autoimmunity, Decreased circulating antibody level, Bronchiectasis |
OMIM:616005 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Igg4-Related Thyroid Disease |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Dysphagia, Increased circulating IgG4 ... |
ORPHA:64744 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Candidiasis, Familial, 2 |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Systemic lupus erythematosus, Arthritis, Malar rash, Antinuclear antibody positivity |
OMIM:609939 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmunity, Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... |
OMIM:615952 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Xerostomia, Rheumatoid ar... |
OMIM:270150 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circula... |
OMIM:308230 |
Immunodeficiency 22 |
|
Diarrhea, Autoimmunity, Panniculitis |
OMIM:615758 |
Pemphigus Erythematosus |
|
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Mala... |
ORPHA:79480 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... |
OMIM:307200 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:859 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... |
ORPHA:101096 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmunity, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG level, De... |
ORPHA:331206 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating antibody level, Skin rash |
OMIM:618048 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:233710 |
C3 Glomerulopathy |
|
Autoimmunity, C3 nephritic factor positivity, Decreased serum complement C4, Paraproteinemia, Dec... |
ORPHA:329918 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgG level, Chronic mucocutaneous... |
OMIM:615816 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
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Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Chronic diarrhea, Increased circulatin... |
OMIM:618523 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis |
ORPHA:399180 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Decreased specific antibody response to vaccination, Pneumon... |
OMIM:614700 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent gram-negative bact... |
OMIM:116920 |
Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... |
ORPHA:331235 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent bacterial infections, Sepsis, Pulmonary tuberculosis, Recurrent herpes, Recurrent otiti... |
ORPHA:183675 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Recurrent otitis media, Recurrent pneumonia |
OMIM:617475 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... |
OMIM:308240 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Atopic dermatitis, Pneumonia, Chronic otitis media, Increased circulating IgE level, Recurrent ba... |
ORPHA:217390 |
Macrophage Activation Syndrome |
|
Autoimmunity, Increased circulating interleukin 6, Hepatitis, Systemic lupus erythematosus, Incre... |
ORPHA:158061 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Autoimmunity, Prostatitis, Xerostomia, Increased circulating IgG4 level, Increased c... |
ORPHA:449432 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Decreased circulating IgG level,... |
OMIM:608809 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:306400 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... |
ORPHA:2442 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Rheumatoid factor positive, Increased circulating IgG1 level, Infla... |
ORPHA:449395 |
Angiostrongyliasis |
|
Vomiting, Nausea, Increased circulating IgA level, Increased circulating IgG level, Increased cir... |
ORPHA:74 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Bronchiectasis |
OMIM:241600 |
Thymic Tumor |
|
Dysgammaglobulinemia, Dysphagia, Pericarditis, Autoimmunity |
ORPHA:100100 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Erythroderma, Pustule, Increased circulating IgE level, Blepharitis |
OMIM:614328 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Autoimmunity |
ORPHA:703 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Autoimmunity, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otiti... |
ORPHA:47 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Erythroderma, Hepatitis, Arthritis,... |
OMIM:304790 |
Thymoma |
|
Autoimmunity, Abnormal lymphocyte proliferation, Anti-acetylcholine receptor antibody positivity,... |
ORPHA:99867 |
Lymphoproliferative Syndrome 1 |
|
Autoimmunity, Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level, ... |
OMIM:613011 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmunity, Systemic lupus erythematosus, Skin rash, Autoimmune hemolytic anemia |
ORPHA:90036 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent ear ... |
ORPHA:486 |
Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Tubulointerstitial nephritis, ... |
ORPHA:37042 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Autoimmunity, Pericarditis, Anterior uveitis, Juvenile rheumatoid arthritis, Skin rash |
ORPHA:85414 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Pneumonia, Increased circulating IgA level, Nephritis, Systemic lupus erythematosus... |
ORPHA:2298 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Defective T cell proliferation, Increased circulating IgG level, Eosinophilic in... |
OMIM:618213 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Vomiting, Nausea, Abnor... |
ORPHA:542323 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Secretory diarrhea, Decreased circulating IgG level, Diarrhea, Vomiting |
OMIM:600351 |
Q Fever |
|
Myocarditis, Pericarditis, Infectious encephalitis, Cryoglobulinemia, Pneumonia, Endocarditis, He... |
ORPHA:781 |
Brucellosis |
|
Myocarditis, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, Pericarditis, Inf... |
ORPHA:1304 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent viral infections, R... |
OMIM:613179 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu... |
ORPHA:79078 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, Severe varicella zoster infection, Recurrent fungal infections, C... |
OMIM:606367 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Pneumonia, Decreased circulating IgA level, Increased circulating IgE level, Autoimmun... |
OMIM:102700 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Autoimmunity, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Ir... |
ORPHA:85436 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Allergic rhinitis, Erythroderma |
OMIM:256500 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Xeros... |
ORPHA:227990 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Autoimmunity, Interface hepatitis, Hematochezia, Autoimmune hemolytic an... |
OMIM:243150 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Rift Valley Fever |
|
Infectious encephalitis, Hepatitis, Increased circulating IgG level, Melena, Uveitis, Increased c... |
ORPHA:319251 |
Ebola Hemorrhagic Fever |
|
Dysphagia, Vomiting, Nausea, Hepatitis, Melena, Gastrointestinal hemorrhage, Increased circulatin... |
ORPHA:319218 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, P... |
ORPHA:449427 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Xeros... |
ORPHA:227982 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... |
OMIM:600903 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Panniculitis, Chronic diarrhea, Increased circulating IgM level,... |
OMIM:617099 |
Coccidioidomycosis |
|
Pericarditis, Folliculitis, Pneumonia, Peritonitis, Panniculitis, Increased circulating IgG level... |
ORPHA:228123 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Cryoglobulinemia, Pneumonia, Increa... |
ORPHA:48435 |
Gamma-Heavy Chain Disease |
|
Autoimmunity, Dysphagia, Autoimmune thrombocytopenia, Rheumatoid arthritis, Skin rash, Autoimmune... |
ORPHA:100026 |
Tick-Borne Encephalitis |
|
Abnormality of serum cytokine level, Dysphagia, Vomiting, Nausea, Increased circulating IgG level... |
ORPHA:297 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... |
ORPHA:449563 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Chronic constipation, Increased circulating interleukin 6, Episcleritis, Increased circulating Ig... |
OMIM:256040 |
Vici Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Chronic ... |
OMIM:242840 |
Transcobalamin Ii Deficiency |
|
Vomiting, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating... |
OMIM:275350 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, Recurrent ear infections, Recurrent fungal infections, Chronic or... |
ORPHA:221139 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Recurrent absce... |
OMIM:608233 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Eczema |
OMIM:313900 |
Wiskott-Aldrich Syndrome |
|
Eczema, Inflammation of the large intestine, Increased circulating IgA level, Hematemesis, Recurr... |
OMIM:301000 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Recurrent respiratory infections |
OMIM:612541 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections |
OMIM:617053 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Recurrent bacterial skin infections, Recurr... |
ORPHA:167 |
Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Meningitis, Recurrent upper respiratory tract infections,... |
ORPHA:51636 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Hematemesis, Epididymitis, Increased circulating IgG level, Melena, Parotitis, Incre... |
ORPHA:99827 |
Multiple Myeloma |
|
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... |
ORPHA:29073 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... |
ORPHA:420741 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial infections |
ORPHA:244 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Ataxia-Telangiectasia |
|
Sinusitis, Bronchiectasis, Decreased circulating IgA level, Defective B cell differentiation, Dec... |
OMIM:208900 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgA, Decreased circulating total IgG, Vomiting, Pneumonia, Bronchiect... |
OMIM:619381 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyogenic infections |
OMIM:214500 |
Sickle Cell Anemia |
|
Recurrent bacterial infections |
OMIM:603903 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Posterior uveitis, Increased circulating IgG level, Anterior uveiti... |
ORPHA:91500 |
Alg12-Cdg |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Partial absen... |
ORPHA:79324 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
OMIM:619573 |
Leukocyte Adhesion Deficiency |
|
Recurrent bacterial infections, Sepsis, BCGosis, Recurrent fungal infections, Chronic oral candid... |
ORPHA:2968 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... |
OMIM:612301 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections |
OMIM:232220 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Shwachman-Diamond Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent viral infections |
ORPHA:811 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Viss Syndrome |
|
Atopic dermatitis, Eczema, Dysphagia, Decreased circulating IgA level, Increased circulating IgG ... |
OMIM:619472 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections |
ORPHA:79259 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections |
ORPHA:2273 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections |
ORPHA:470 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent infections |
ORPHA:1334 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |