SE-ATLAS

Dyskeratosis congenita Rare chromosomal anomaly Leukocyte adhesion deficiency type I Severe combined immunodeficiency due to DCLRE1C deficiency Autoimmune lymphoproliferative syndrome with recurrent viral infections T-B+ severe combined immunodeficiency due to gamma chain deficiency Leukocyte adhesion deficiency type III Severe combined immunodeficiency due to adenosine deaminase deficiency Diffuse large B-cell lymphoma with chronic inflammation Leukocyte adhesion deficiency type II Primary immunodeficiency syndrome due to LAMTOR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Combined immunodeficiency with granulomatosis Nodular lymphocyte predominant Hodgkin lymphoma Familial isolated congenital asplenia Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Activated PI3K-delta syndrome Transient hypogammaglobulinemia of infancy Felty syndrome Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Recurrent infection due to specific granule deficiency Hydroa vacciniforme-like lymphoma Hyperzincemia and hypercalprotectinemia Pearson syndrome Dianzani autoimmune lymphoproliferative disease Hepatic veno-occlusive disease-immunodeficiency syndrome Immunodeficiency due to a classical component pathway complement deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Herpes simplex virus encephalitis Constitutional neutropenia with extra-hematopoietic manifestations PLCG2-associated antibody deficiency and immune dysregulation 22q11.2 deletion syndrome X-linked hyper-IgM syndrome Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 2 T-B+ severe combined immunodeficiency due to JAK3 deficiency Immunodeficiency by defective expression of MHC class II Immunodeficiency due to a late component of complement deficiency Hyper-IgM syndrome type 5 Immunodeficiency due to ficolin3 deficiency T-B+ severe combined immunodeficiency Nijmegen breakage syndrome-like disorder Acquired immunodeficiency Epidermodysplasia verruciformis Combined immunodeficiency due to STK4 deficiency Muckle-Wells syndrome Chédiak-Higashi syndrome Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Other immunodeficiency syndromes due to defects in innate immunity T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Isolated agammaglobulinemia Immunodeficiency due to MASP-2 deficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Combined immunodeficiency due to CARD11 deficiency Omenn syndrome Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency T-B+ severe combined immunodeficiency due to CD45 deficiency Primary central nervous system lymphoma X-linked mendelian susceptibility to mycobacterial diseases Syndromic agammaglobulinemia Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Cartilage-hair hypoplasia Severe combined immunodeficiency due to DNA-PKcs deficiency T-B- severe combined immunodeficiency Autoimmune polyendocrinopathy type 1 X-linked severe congenital neutropenia Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells X-linked agammaglobulinemia Kostmann syndrome Severe congenital neutropenia Hoyeraal-Hreidarsson syndrome Roifman syndrome Blau syndrome Combined immunodeficiency due to ORAI1 deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Acquired neutropenia Combined immunodeficiency with facio-oculo-skeletal anomalies Combined immunodeficiency due to STIM1 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Laron syndrome with immunodeficiency Syndrome with combined immunodeficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Post-transplant lymphoproliferative disease Cohen syndrome Schimke immuno-osseous dysplasia Autoinflammatory syndrome with immune deficiency Immunodeficiency with factor I anomaly Deficiency in anterior pituitary function-variable immunodeficiency syndrome Primary immunodeficiency due to a defect in adaptive immunity Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Immunodeficiency with factor H anomaly Susceptibility to infection due to TYK2 deficiency Mendelian susceptibility to mycobacterial diseases Immunodeficiency due to absence of thymus Hypohidrotic ectodermal dysplasia with immunodeficiency Recurrent Neisseria infections due to factor D deficiency Familial Mediterranean fever Hyper-IgE syndrome Hyperimmunoglobulinemia D with periodic fever Lichtenstein syndrome Sterile multifocal osteomyelitis with periostitis and pustulosis Common variable immunodeficiency Selective IgM deficiency Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Severe combined immunodeficiency Reticular dysgenesis Severe combined immunodeficiency due to IKK2 deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Autosomal dominant severe congenital neutropenia Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Purine nucleoside phosphorylase deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency WHIM syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Epstein-Barr virus-associated malignant lymphoproliferative disorder Hyper-IgM syndrome with susceptibility to opportunistic infections Spondyloenchondrodysplasia T+ B+ severe combined immunodeficiency Sonstige Immundefekt-Syndrome mit vorwiegendem Antikörper-Defekt FADD-abhängiger Immundefekt Agammaglobulinämie Hyper-IgM-Syndrom ohne opportunistische Infektionen Immundefekt durch MHC Klasse I-Expressionsdefekt ICF-Syndrom DNA-Reparaturdefekt, ungleich kombinierter B- und T-Zell-Immundefekt Kleinwuchs durch isolierten Wachstumshormonmangel mit X-chromosomaler Hypogammaglobulinämie Immundefekt mit starker Reduktion von Serum-IgG und Serum-IgA bei normalem/erhöhtem IgM-Level und normaler Anzahl B-Zellen Fehlende Daumen-Kleinwuchs-Immundefekt-Syndrom CINCA-Syndrom PFAPA-Syndrom CD4-Lymphozytopenie, idiopathische T-Zell-Immundefekt mit Epidermodysplasia verruciformis Wiskott-Aldrich-Syndrom T- und B-Zell-Immundefekt, kombinierter Cernunnos/XLF-Mangel Tumornekrosefaktor-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom Immundefekt, X-chromosomaler, mit Magnesium-Defekt, Epstein-Barr-Virus-Infektion und Neoplasie Rezidivierende Infekte-Myelofibrose-Nephromegalie-Syndrom Dysplasie, immuno-ossäre Immundefekt-Syndrom mit Autoimmunität Immundefekt mit vorwiegender Beeinträchtigung der Antikörper-Produktion Immundefekt, kombinierter, durch ZAP70-Mangel Hermansky-Pudlak-Syndrom durch AP-3-Defizienz Hodgkin-Lymphom Lymphoproliferative Krankheit, autosomal-rezessive Immundefekt, kombinierter schwerer, durch CORO1A-Mangel Neutropenie, zyklische Immundefekt-Syndrom mit Hypopigmentierung Immundefekt, kombinierter, durch CD3-gamma-Mangel Poikilodermie mit Neutropenie Rezidivierende Infekte mit assoziierten Immunoglobulin-Isotypen Panzytopenie durch IKZF1-Genmutationen Schwere rekurrente Infektionen mit neutrophiler Dysfunktion Griscelli-Syndrom Typ 2 Neutropenie, adulte idiopathische Immundysregulation mit Immundefekt Griscelli-Syndrom Typ 1 Lymphoproliferatives Syndrom Erhöhte Anfälligkeit für Atemwegsinfektionen durch CD8alpha-Defizienz Epstein-Barr Virus-positive diffuse großzellige B-Zell-Lymphom des älteren Erwachsenen Neutropenie - Monozytopenie - Schwerhörigkeit Majeed-Syndrom Lymphohistiozytose, hämophagozytische, primäre Griscelli-Syndrom Typ 3 Immundefekt des Erwachsenen, mit anti-Interferon gamma-Antikörpern Ataxia-Teleangiectasia Nijmegen-Chromosomenbruch-Syndrom Properdin-Mangel Primärer Immundefekt mit Mangel der natürlichen Killerzellen und Nebenniereninsuffizienz Primärer Immundefekt durch Anomalie des angeborenen Immunsystems Schwere Dermatitis-multiple Allergien-metabolischer Verlust-Syndrom Neutropenie, konstitutionelle Immundefekt, kombinierter, durch Defekt des CRAC-Kanals Agammaglobulinämie, autosomal-rezessive Leukozytenadhäsionsdefekt Immundefekt, kombinierter, durch partiellen RAG1-Mangel Cryopyrin-assoziiertes periodisches Syndrom Immundefekt, kombinierter schwerer, durch FOXN1-Defizienz Autoimmunkrankheit, multisystemische syndromale, durch Itch-Mangel Granulomatose, chronische Immundefekt mit Störung des Komplement-Aktivierungsweg Candidose, chronische mukokutane RAS-assoziierte autoimmun-lymphoproliferative Krankheit Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen Defekt Monocytopénie avec susceptibilité aux infections Déficit immunitaire combiné par déficit en MALT1 Syndrome de Griscelli Syndrome LIG4 Déficit en cellules T TCR-alpha-bêta positives Déficit immunitaire par déficit en CD25 Syndrome d'anémie sidéroblastique congénitale-déficit immunitaire en cellules B-fièvre périodique-retard de développement Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit complet Syndrome de Barth Syndrome PAPA Lymphome plasmoblastique Syndrome de Good Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNgammaR2 Déficit immunitaire primaire Ataxie-télangiectasie-like Déficit immunitaire combiné par déficit en IL21R Syndrome immuno-neurologique lié à l'X Syndrome de dysplasie osseuse à membres courts-déficit immunitaire combiné sévère Lymphome de Hodgkin classique Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel Déficit immunitaire combiné par déficit en DOCK8 Syndrome de déficit immunitaire neutrophile Maladie lymphoproliférative liée à l'X Déficit en chaîne lourde des immunoglobulines Syndrome lymphoprolifératif auto-immun Syndrome de Bloom Granulomatose lymphomatoïde Déficit en facteur C3 du complément Leucémie à grands lymphocytes granuleux T Urticaire familiale au froid Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12RB1 Syndrome d'ostéopétrose-hypogammaglobulinémie Syndrome de Vici Prédisposition génétique aux infections à pathogènes particuliers Syndrome de Shwachman-Diamond Prédisposition mendélienne aux infections mycobactériennes par déficit complet en ISG15 Lymphohistiocytose familiale Syndrome de Say-Barber-Miller Lymphome primitif des séreuses Syndrome hyper-IgE autosomique dominant par déficit en STAT3 Déficit en myéloperoxydase Susceptibilité bactérienne dépendante de la voie TLR Syndrome de Papillon-Lefèvre Lymphome de Burkitt Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12B Déficit immunitaire combiné sévère par déficit en LCK Lymphome NK/T extranodulaire type nasal Déficit immunitaire en lymphocytes T avec aplasie du thymus