SE-ATLAS

Immunodeficiency syndrome with hypopigmentation Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Familial Mediterranean fever Sterile multifocal osteomyelitis with periostitis and pustulosis Combined T and B cell immunodeficiency Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Syndromic multisystem autoimmune disease due to Itch deficiency Absent thumb-short stature-immunodeficiency syndrome Pancytopenia due to IKZF1 mutations Leukocyte adhesion deficiency Autosomal agammaglobulinemia Syndromic agammaglobulinemia Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Severe combined immunodeficiency due to FOXN1 deficiency CINCA syndrome Dyskeratosis congenita Hyperimmunoglobulinemia D with periodic fever T-cell immunodeficiency with epidermodysplasia verruciformis Severe combined immunodeficiency due to DCLRE1C deficiency Primary immunodeficiency due to a defect in innate immunity Wiskott-Aldrich syndrome X-linked mendelian susceptibility to mycobacterial diseases RAS-associated autoimmune leukoproliferative disease Recurrent Neisseria infections due to factor D deficiency Syndrome with combined immunodeficiency Agammaglobulinemia T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Lichtenstein syndrome Monocytopenia with susceptibility to infections T-B+ severe combined immunodeficiency due to gamma chain deficiency Leukocyte adhesion deficiency type II X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Primary immunodeficiency syndrome due to LAMTOR2 deficiency PFAPA syndrome Common variable immunodeficiency Herpes simplex virus encephalitis Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Combined immunodeficiency due to MALT1 deficiency Selective IgM deficiency PLCG2-associated antibody deficiency and immune dysregulation Tumor necrosis factor receptor 1 associated periodic syndrome Constitutional neutropenia with extra-hematopoietic manifestations Chronic granulomatous disease Immunoglobulin heavy chain deficiency X-linked lymphoproliferative disease Severe combined immunodeficiency due to adenosine deaminase deficiency Chronic mucocutaneous candidiasis Leukocyte adhesion deficiency type I 22q11.2 deletion syndrome Cartilage-hair hypoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Immuno-osseous dysplasia Severe combined immunodeficiency due to DNA-PKcs deficiency Autoimmune lymphoproliferative syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Hyper-IgM syndrome type 2 Other immunodeficiency syndrome with predominantly antibody defects Rare immune disease Recurrent infections associated with rare immunoglobulin isotypes deficiency Immunodeficiency due to a late component of complement deficiency Other immunodeficiency syndromes due to defects in innate immunity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Cohen syndrome Combined immunodeficiency with granulomatosis Bloom syndrome Schimke immuno-osseous dysplasia Severe combined immunodeficiency due to IKK2 deficiency Autoinflammatory syndrome with immune deficiency Poikiloderma with neutropenia T-B- severe combined immunodeficiency X-linked hyper-IgM syndrome Immunodeficiency syndrome with autoimmunity Combined immunodeficiency due to IL21R deficiency Combined immunodeficiency due to CD3gamma deficiency Immunodeficiency due to CD25 deficiency Genetic susceptibility to infections due to particular pathogens Combined immunodeficiency due to CD27 deficiency Leukocyte adhesion deficiency type III Severe combined immunodeficiency due to CORO1A deficiency Complement component 3 deficiency Immunodeficiency due to a complement cascade protein anomaly Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Immunodeficiency with factor I anomaly Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Autoimmune lymphoproliferative syndrome with recurrent viral infections Cernunnos-XLF deficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Immunodeficiency due to a classical component pathway complement deficiency Combined immunodeficiency due to ZAP70 deficiency Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Familial cold urticaria Neutrophil immunodeficiency syndrome Deficiency in anterior pituitary function-variable immunodeficiency syndrome Reticular dysgenesis Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency TCR-alpha-beta-positive T-cell deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Idiopathic CD4 lymphocytopenia Hyper-IgM syndrome type 3 Combined immunodeficiency due to partial RAG1 deficiency Autosomal dominant severe congenital neutropenia NLRP3-associated autoinflammatory disease Barth syndrome LIG4 syndrome T-B+ severe combined immunodeficiency due to JAK3 deficiency Laron syndrome with immunodeficiency Immunodeficiency predominantly affecting antibody production Osteopetrosis-hypogammaglobulinemia syndrome Autoimmune polyendocrinopathy type 1 Primary hemophagocytic lymphohistiocytosis Hyper-IgE syndrome Severe combined immunodeficiency due to complete RAG1/2 deficiency Cyclic neutropenia Nijmegen breakage syndrome-like disorder Hyper-IgM syndrome with susceptibility to opportunistic infections Primary immunodeficiency Immunodeficiency by defective expression of MHC class II Immunodeficiency due to selective anti-polysaccharide antibody deficiency Dianzani autoimmune lymphoproliferative disease Vici syndrome Shwachman-Diamond syndrome Combined immunodeficiency due to STIM1 deficiency Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Purine nucleoside phosphorylase deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Lymphoproliferative syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Schwere Dermatitis-multiple Allergien-metabolischer Verlust-Syndrom Agammaglobulinämie-Mikrozephalie-Kraniosynostose-schwere Dermatitis-Syndrom Neutropenie, kongenitale schwere, X-chromosomale Immundefekt durch Ficolin-3-Mangel Ataxia-Teleangiectasia-ähnliche Krankheit Suszeptibilität für Mykobakteriosen durch kompletten ISG15-Defekt Schwere rekurrente Infektionen mit neutrophiler Dysfunktion Immundefekt durch Interleukin-1-Rezeptor-assoziierten Kinase-4-Mangel PAPA-Syndrom Immundysregulation-Polyendokrinopathie-Enteropathie-Syndrom, X-chromosomales Lymphohistiozytose, hämophagozytische, familiäre Form Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R1-Defekt Immundefekt, kombinierter schwerer, T-B+ Asplenie, familiäre isolierte, kongenitale WHIM-Syndrom Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R2-Defekt Immundefekt, kombinierter schwerer Say-Barber-Miller-Syndrom T+ B+ schwerer kombinierter Immundefekt Kostmann-Syndrom Primärer Immundefekt durch Störung der adaptiven Immunität Epidermodysplasia verruciformis Immundefekt mit Faktor H-Anomalie Muckle-Wells-Syndrom Hyper-IgE-Syndrom, autosomal-dominantes Myeloperoxidase-Mangel Immundefekt, kombinierter, durch STK4-Mangel Suszeptibilität für Bakterieninfektion durch TLR Signalweg-Defizienz Suszeptibilität für Infektionen durch TYK2-Mangel Erhöhte Anfälligkeit für Atemwegsinfektionen durch CD8alpha-Defizienz Agammaglobulinämie, X-chromosomale Hermansky-Pudlak-Syndrom durch AP-3-Defizienz Aktivierendes PIK3-delta-Syndrom Antikörpermangel mit normalen Immunglobulinen und B-Zellen Papillon-Lefèvre-Syndrom Griscelli-Syndrom Typ 2 Neutropenie - Monozytopenie - Schwerhörigkeit Blau-Syndrom Chédiak-Higashi-Syndrom Hypohidrotische ektodermale Dysplasie mit Immundefekt Immuno-neurologische Krankheit, X-chromosomale Hyperzinkämie und Hypercalprotectinämie Spondyloenchondrodysplasie Roifman-Syndrom Neutropenie, kongenitale schwere Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R2-Defekt DNA-Reparaturdefekt, ungleich kombinierter B- und T-Zell-Immundefekt Agammaglobulinämie, isolierte Immundefekt, kombinierter, durch Defekt des CRAC-Kanals Skelettdysplasie mit verkürzten Extremitäten und schwerem kombinierten Immundefekt Rekurrente Infektionen durch spezifischen Granulamangel Hoyeraal-Hreidarsson-Syndrom Autoimmune Enteropathie und Endokrinopathie-Empfänglichkeit für chronische Infektionen-Syndrom Ataxia-Teleangiectasia Immundefekt durch fehlenden Thymus Suszeptibilität für Mykobakteriosen, familiäre Form Rezidivierende Infekte-Myelofibrose-Nephromegalie-Syndrom Suszeptibilität für Mykobakteriosen durch kompletten IL12B-Defekt Majeed-Syndrom Immundefekt, kombinierter schwerer, durch DOCK8-Mangel FADD-abhängiger Immundefekt Omenn-Syndrom Immundefekt durch MASP-2-Mangel T-Zell-Immundefekt mit Thymusaplasie Immundefekt, kombinierter schwerer, durch LCK-Mangel Kombinierter Immundefekt mit fazio-okulo-skelettalen Anomalien Neutropenie, konstitutionelle Lebervenen-Verschlusskrankheit - Immunschwäche Immundysregulation mit Immundefekt Nijmegen-Chromosomenbruch-Syndrom Immundefekt, kombinierter, durch ORAI1-Mangel Transiente Hypogammaglobulinämie der Kindheit Immundefekt, kombinierter schwerer, T- B+, durch CD45-Mangel Glykogenose Typ 1b Properdin-Mangel Immundefekt, kombinierter schwerer, durch CARD11-Mangel Hyper-IgM-Syndrom ohne opportunistische Infektionen Suszeptibilität für Mykobakteriosen durch partielle STAT1-Defizienz X-chromosomale Suszeptibilität für Mykobakteriosen durch IKBKG-Defekt Pearson-Syndrom Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen Defekt Immundefekt durch MHC Klasse I-Expressionsdefekt ICF-Syndrom