SE-ATLAS

Déficit immunitaire combiné non-sévère Neutropénie constitutionnelle Déficit fonctionnel des neutrophiles Déficit immunitaire commun variable Ataxie-télangiectasie Déficit immunitaire primaire par défaut de l'immunité innée Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit complet du récepteur RORgamma Syndrome de Wiskott-Aldrich Déficit immunitaire primaire Syndrome hyper-IgM avec susceptibilité aux infections opportunistes Déficit immunitaire combiné sévère Hypoglammaglobulinémie transitoire de l'enfance Déficit immunitaire primaire avec prédisposition aux infections virales sévères Maladie avec dérèglement et déficit immunitaire Déficit en NIK Déficit immunitaire primaire autosomique récessif avec un défaut de cytotoxicité spontanée des cellules Natural Killer Agammaglobulinémie Déficit immunitaire primaire avec infection virale disséminée post-vaccination de la rougeole, des oreillons et de la rubéole Déficit immunitaire par déficit de production d'anticorps Déficit immunitaire primaire par défaut de l'immunité adaptative Déficit immunitaire primaire avec déficit en cellules NK et insuffisance surrénale Déficit d'adhésion leucocytaire type II Déficit d'adhésion leucocytaire type I Déficit d'adhésion leucocytaire type III Déficit immunitaire combiné sévère T-B+ par déficit en JAK3 Syndrome hyper-IgE autosomique dominant par déficit en STAT3 Syndrome immuno-neurologique lié à l'X Déficit immunitaire en lymphocytes T avec aplasie du thymus Déficit immunitaire combiné sévère type alymphocytosique Déficit immunitaire combiné sévère T-B+ par déficit en chaîne gamma Déficit immunitaire combiné sévère par déficit en adénosine désaminase Syndrome de PI3K-delta activé Kein Name gefunden Déficit immunitaire par déficit d'expression des molécules CMH de classe I Déficit immunitaire lié à l'X avec déficit en magnésium, infection et néoplasie liées au virus Epstein-Barr Kein Name gefunden Pancytopénie par mutations de IKZF1 Déficit immunitaire combiné par déficit en OX40 Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit complet Déficit immunitaire combiné par déficit en DOCK8 Agammaglobulinémie liée à l'X Syndrome de Laron avec déficit immunitaire Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel 22q11.2 deletion syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Immunodeficiency by defective expression of MHC class II Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Complement component 3 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Combined immunodeficiency due to STK4 deficiency Severe combined immunodeficiency due to LCK deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Combined T and B cell immunodeficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal agammaglobulinemia Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Combined immunodeficiency due to LRBA deficiency C1 inhibitor deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Immunodeficiency due to a complement cascade protein anomaly Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Hyper-IgM syndrome without susceptibility to opportunistic infections Combined immunodeficiency due to CARD11 deficiency X-linked mendelian susceptibility to mycobacterial diseases Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Cernunnos-XLF deficiency Poikiloderma with neutropenia Combined immunodeficiency due to CD3gamma deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation Combined immunodeficiency due to CRAC channel dysfunction Omenn syndrome TCR-alpha-beta-positive T-cell deficiency Neutropenia-monocytopenia-deafness syndrome RIDDLE syndrome X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Severe combined immunodeficiency due to FOXN1 deficiency Predisposition to invasive fungal disease due to CARD9 deficiency Absent thumb-short stature-immunodeficiency syndrome Combined immunodeficiency due to MALT1 deficiency X-linked lymphoproliferative disease Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Immunodeficiency due to CD25 deficiency Combined immunodeficiency due to ZAP70 deficiency Immunoglobulin heavy chain deficiency Leukocyte adhesion deficiency Genetic susceptibility to infections due to particular pathogens Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Severe combined immunodeficiency due to CORO1A deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Primary immunodeficiency syndrome due to LAMTOR2 deficiency Short-limb skeletal dysplasia with severe combined immunodeficiency Immunodeficiency due to ficolin3 deficiency WHIM syndrome Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to a classical component pathway complement deficiency Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency T-cell immunodeficiency with epidermodysplasia verruciformis Severe combined immunodeficiency due to complete RAG1/2 deficiency T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Immunodeficiency due to absence of thymus Hyper-IgE syndrome Hereditary angioedema type 2 Hereditary angioedema type 1 F12-related hereditary angioedema with normal C1Inh Severe combined immunodeficiency due to CTPS1 deficiency ICF syndrome Severe combined immunodeficiency due to IKK2 deficiency Hyper-IgM syndrome type 2 Immunodeficiency with factor I anomaly Hyper-IgM syndrome type 3 LIG4 syndrome Immunodeficiency with factor H anomaly T-B+ severe combined immunodeficiency T+ B+ severe combined immunodeficiency Combined immunodeficiency due to ORAI1 deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Purine nucleoside phosphorylase deficiency Recurrent Neisseria infections due to factor D deficiency Combined immunodeficiency due to DOCK2 deficiency Susceptibility to infection due to TYK2 deficiency X-linked hyper-IgM syndrome Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Selective IgM deficiency Other immunodeficiency syndrome with predominantly antibody defects Mendelian susceptibility to mycobacterial diseases T-B- severe combined immunodeficiency Combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency due to STIM1 deficiency Hereditary angioedema Primary CD59 deficiency Hypohidrotic ectodermal dysplasia with immunodeficiency