Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
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 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... |
OMIM:614372 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... |
OMIM:605258 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
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 streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... |
OMIM:613500 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Impaired Ig class switch recombination, R... |
OMIM:608106 |
Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Recurrent bacterial infections... |
OMIM:606843 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG2 lev... |
OMIM:300310 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Tegumentary leishmaniasis susceptibility,... |
ORPHA:319552 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... |
OMIM:613501 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... |
OMIM:613502 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... |
OMIM:300636 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:612692 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Recurrent infections, Decreased circulating IgG level |
OMIM:146830 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent upper respiratory... |
OMIM:193670 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... |
OMIM:240500 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Impaired neutrophil bactericidal activity |
OMIM:245480 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Infectious encephalitis, Recurrent urinary tract infections, Chronic mu... |
OMIM:209920 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis medi... |
OMIM:607594 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... |
ORPHA:275 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level |
ORPHA:169079 |
Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Recurrent bacterial infections, Recurrent upper respirato... |
OMIM:608184 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis |
OMIM:613779 |
Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Abnormal circulating interleukin concentration, Increased circulating interleukin 6 conce... |
ORPHA:70578 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Recurrent bacterial infections |
OMIM:202700 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Disseminated molluscum contagiosum, Recurrent sinusitis, Recurre... |
OMIM:243700 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... |
OMIM:607676 |
Acute Lung Injury |
|
Sepsis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor s... |
ORPHA:178320 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... |
ORPHA:276 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... |
OMIM:300291 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Increased ci... |
ORPHA:2688 |
Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections |
OMIM:619437 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, Lack of T cell function, Recurrent Staphylococcus aureus infections, De... |
ORPHA:572 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Decreased T cell activation, Recurrent lower respiratory tract infectio... |
OMIM:308230 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Recurrent respiratory infections, Decreased circulating antibody level,... |
OMIM:601495 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia |
OMIM:619693 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... |
OMIM:147060 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Recurrent bacterial infections, Recurrent upper respiratory tract infecti... |
OMIM:616005 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:540 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Increased circulating IgA level, Recurrent viral infections, Incr... |
OMIM:618048 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Increased circulating interleukin 6 concentration, Abnormality of chemokine secret... |
ORPHA:544482 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Reduced antigen-specific T... |
ORPHA:331206 |
Thymic Aplasia |
|
Invasive fungal infection, Opportunistic infection, Severe infection, Recurrent Staphylococcus au... |
ORPHA:83471 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome, Recurrent urinary tract infection... |
OMIM:307200 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent shingles, Decreased circulating IgG level, Decreased circulating total IgM, Severe infe... |
ORPHA:183675 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Recurrent staphylococcal infections, Men... |
ORPHA:331235 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233710 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Recurrent respiratory infections, Chronic oral candidiasis, Re... |
OMIM:606367 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233690 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... |
OMIM:116920 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... |
ORPHA:911 |
Sweet Syndrome |
|
Recurrent infections, Abnormal circulating interleukin concentration, Increased circulating inter... |
ORPHA:3243 |
Complement Factor I Deficiency |
|
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... |
OMIM:610984 |
Immunodeficiency 23 |
|
Persistent EBV viremia, Severe varicella zoster infection, Recurrent Staphylococcus aureus infect... |
OMIM:615816 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infections, Meningitis, Recurrent... |
ORPHA:169090 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Absent specific antibody respo... |
OMIM:102700 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Sepsis |
OMIM:617475 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Recurrent urinary tract infections, Abnormality of B cell phy... |
OMIM:613179 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent ear infections, Decreased circulating total IgM, Chronic oral candidiasis, Decreased ci... |
ORPHA:221139 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Pgm3-Cdg |
|
Recurrent fungal infections, Reduced antigen-specific T cell proliferation, Increased circulating... |
ORPHA:443811 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent ear infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, Rec... |
ORPHA:486 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... |
ORPHA:542323 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:306400 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic oral candidiasis, Deep dermatophytosis, Chronic tinea infection, Meningitis, Onychomycosi... |
OMIM:212050 |
Immunodeficiency 47 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating a... |
OMIM:300972 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Whim Syndrome |
|
Decreased circulating antibody level, Recurrent pneumonia, Recurrent bacterial infections, Recurr... |
ORPHA:51636 |
Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent viral infections, Hypoproteinemia, Recurrent fungal inf... |
OMIM:603554 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Immunodeficiency 21 |
|
Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... |
ORPHA:48435 |
Vici Syndrome |
|
Decreased T cell activation, Decreased circulating IgG2 level, Chronic mucocutaneous candidiasis,... |
OMIM:242840 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Reduced natural killer cell activity, Impaired ADP-induced platelet agg... |
OMIM:608233 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines, Recurrent in... |
OMIM:612132 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Abnormal platelet function, Recurrent staphylococcal infecti... |
ORPHA:167 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion |
ORPHA:567983 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Chediak-Higashi Syndrome |
|
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Recurrent infections... |
OMIM:214500 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Impair... |
ORPHA:2968 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections |
OMIM:617053 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections, Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respiratory t... |
OMIM:612541 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Shwachman-Diamond Syndrome |
|
Hypoamylasemia, Impaired neutrophil chemotaxis, Recurrent bacterial infections, Bone marrow hypoc... |
ORPHA:811 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media |
ORPHA:244 |
Immunodeficiency 87 And Autoimmunity |
|
Persistent EBV viremia, Sepsis, Recurrent bacterial infections, Elevated circulating C-reactive p... |
OMIM:619573 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Lysinuric Protein Intolerance |
|
Increased circulating antibody level, Recurrent bacterial infections, Decreased circulating antib... |
ORPHA:470 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Polyclonal elevation of IgM |
ORPHA:171 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections |
OMIM:232220 |
Cystic Fibrosis |
|
Recurrent Haemophilus influenzae infections, Recurrent Staphylococcus aureus infections, Recurren... |
ORPHA:586 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections |
ORPHA:79259 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections |
ORPHA:2273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |