SE-ATLAS

Hemophagocytic syndrome X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Poikiloderma with neutropenia Recurrent infections associated with rare immunoglobulin isotypes deficiency Tumor necrosis factor receptor 1 associated periodic syndrome Idiopathic CD4 lymphocytopenia Cernunnos-XLF deficiency Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Congenital neutropenia-myelofibrosis-nephromegaly syndrome Combined immunodeficiency due to ZAP70 deficiency Hermansky-Pudlak syndrome due to AP-3 deficiency Twin to twin transfusion syndrome Immunodeficiency predominantly affecting antibody production Cyclic neutropenia Susceptibility to respiratory infections associated with CD8alpha chain mutation Combined immunodeficiency due to CD3gamma deficiency Immunodeficiency syndrome with autoimmunity Immunodeficiency syndrome with hypopigmentation Pancytopenia due to IKZF1 mutations Adult idiopathic neutropenia T-cell immunodeficiency with epidermodysplasia verruciformis Combined immunodeficiency due to CD27 deficiency Severe combined immunodeficiency due to CORO1A deficiency Secondary hemophagocytic lymphohistiocytosis Immune dysregulation disease with immunodeficiency Griscelli syndrome type 2 Neutropenia-monocytopenia-deafness syndrome Primary hemophagocytic lymphohistiocytosis Lymphoproliferative syndrome Ataxia-telangiectasia Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Functional neutrophil defect Majeed syndrome Constitutional neutropenia RAS-associated autoimmune leukoproliferative disease Nijmegen breakage syndrome Properdin deficiency Severe dermatitis-multiple allergies-metabolic wasting syndrome Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Monocytopenia with susceptibility to infections Combined immunodeficiency due to CRAC channel dysfunction Leukocyte adhesion deficiency Autosomal agammaglobulinemia Primary immunodeficiency due to a defect in innate immunity Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Chronic granulomatous disease NLRP3-associated autoinflammatory disease Chronic mucocutaneous candidiasis Severe combined immunodeficiency due to FOXN1 deficiency Combined immunodeficiency due to partial RAG1 deficiency Syndromic multisystem autoimmune disease due to Itch deficiency Hemophagocytic syndrome associated with an infection Immunodeficiency due to a complement cascade protein anomaly Barth syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency LIG4 syndrome PAPA syndrome Primary immunodeficiency Immunodeficiency due to CD25 deficiency Combined immunodeficiency due to IL21R deficiency Good syndrome Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency X-linked immunoneurologic disorder Short-limb skeletal dysplasia with severe combined immunodeficiency Complement component 3 deficiency Acquired hemophagocytic lymphohistiocytosis associated with malignant disease Ataxia-telangiectasia-like disorder Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Immunoglobulin heavy chain deficiency Graft versus host disease Combined immunodeficiency due to DOCK8 deficiency Macrophage activation syndrome X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome Osteopetrosis-hypogammaglobulinemia syndrome Bloom syndrome Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Neutrophil immunodeficiency syndrome Familial cold urticaria Severe combined immunodeficiency due to LCK deficiency T-cell large granular lymphocyte leukemia Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Shwachman-Diamond syndrome Genetic susceptibility to infections due to particular pathogens Vici syndrome Familial hemophagocytic lymphohistiocytosis Say-Barber-Miller syndrome Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Myeloperoxidase deficiency Papillon-Lefèvre syndrome T-cell immunodeficiency with thymic aplasia Dyskeratosis congenita Severe combined immunodeficiency due to DCLRE1C deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency Primary immunodeficiency syndrome due to LAMTOR2 deficiency Leukocyte adhesion deficiency type II Severe combined immunodeficiency due to adenosine deaminase deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type III Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Combined immunodeficiency with granulomatosis Felty syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections Anti-HLA hyperimmunization Transient hypogammaglobulinemia of infancy Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Familial isolated congenital asplenia Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Hepatic veno-occlusive disease-immunodeficiency syndrome Dianzani autoimmune lymphoproliferative disease Pearson syndrome Hyperzincemia and hypercalprotectinemia Recurrent infection due to specific granule deficiency Activated PI3K-delta syndrome X-linked hyper-IgM syndrome Herpes simplex virus encephalitis PLCG2-associated antibody deficiency and immune dysregulation 22q11.2 deletion syndrome Constitutional neutropenia with extra-hematopoietic manifestations Hyper-IgM syndrome type 3 Combined immunodeficiency due to CARD11 deficiency Immunodeficiency due to a classical component pathway complement deficiency Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 5 T-B+ severe combined immunodeficiency due to JAK3 deficiency Hyper-IgM syndrome type 4 Immunodeficiency by defective expression of MHC class II Immunodeficiency due to a late component of complement deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency due to CD45 deficiency Muckle-Wells syndrome Epidermodysplasia verruciformis Other immunodeficiency syndromes due to defects in innate immunity Chédiak-Higashi-Syndrom Immundefekt, kombinierter, durch STK4-Mangel Suszeptibilität für Mykobakteriosen durch partiellen IRF8-Defekt Immundefekt, kombinierter schwerer, T- B+, durch IL-7Ralpha-Mangel Nijmegen-Breakage-Syndrom-ähnliche Krankheit Immundefekt, kombinierter schwerer, T-B- Agammaglobulinämie, syndromale Omenn-Syndrom Immundefekt durch MASP-2-Mangel Suszeptibilität für Mykobakteriosen durch partielle STAT1-Defizienz Agammaglobulinämie, isolierte Immundefekt, erworbener Immundefekt, kombinierter schwerer, T- B+, durch CD3delta/CD3epsilon/CD3zeta-Defekt Immundefekt durch Ficolin-3-Mangel Knorpel-Haar-Hypoplasie Immundefekt, kombinierter schwerer, durch DNA-PKcs-Mangel Immundefekt, kombinierter, durch ORAI1-Mangel Autoimmune Enteropathie und Endokrinopathie-Empfänglichkeit für chronische Infektionen-Syndrom Roifman-Syndrom Neutropenie, kongenitale schwere, X-chromosomale Autoimmun-Polyendokrinopathie Typ 1 Antikörpermangel mit normalen Immunglobulinen und B-Zellen Suszeptibilität für Mykobakteriosen, X-chromosomal Kostmann-Syndrom Agammaglobulinämie, X-chromosomale Neutropenie, kongenitale schwere Kombinierter Immundefekt mit fazio-okulo-skelettalen Anomalien Blau-Syndrom Hoyeraal-Hreidarsson-Syndrom Autoinflammatorisches Syndrom mit Immundefekt Immundefekt, kombinierter, durch STIM1-Mangel X-chromosomale Suszeptibilität für Mykobakteriosen durch IKBKG-Defekt Neutropenie, erworbene Immundefekt, kombinierter schwerer, durch kompletten RAG1/2-Mangel Syndrome mit kombiniertem Immundefekt Laron-Syndrom mit Immundefekt Cohen-Syndrom Knochendysplasie, immuno-ossäre, Typ Schimke Immundefekt durch fehlenden Thymus Immundefekt mit Faktor H-Anomalie Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R1-Defekt Primärer Immundefekt durch Störung der adaptiven Immunität Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom X-chromosomale Suszeptibilität für Mykobakteriosen durch CYBB-Defekt Immundefekt mit Faktor I-Anomalie Suszeptibilität für Infektionen durch TYK2-Mangel Neutrophilie, hereditäre Suszeptibilität für Mykobakteriosen, familiäre Form Hypohidrotische ektodermale Dysplasie mit Immundefekt Mittelmeerfieber, familiäres Hyper IgE-Syndrom Hyperimmunglobulinämie D mit Rückfallfieber Neisseria-Infektionen, rekurrente, durch Faktor D-Mangel Lichtenstein-Syndrom Immundefektsyndrom, variables IgM-Mangel, selektiver Sterile multifokale Osteomyelitis mit Periostitis und Pustulose Immunkrankheit, seltene Retikuläre Dysgenesie FADD-abhängiger Immundefekt Anhidrotische ektodermale Dysplasie-Immundefekt-Osteopetrose-Lymphödem-Syndrom Neutropenie, kongenitale schwere, autosomal-dominante Purin-Nukleosid-Phosphorylase-Mangel Immundefekt mit Isotypen- oder Leichtketten-Mangel und normaler Anzahl B-Zellen Immundefekt durch Interleukin-1-Rezeptor-assoziierten Kinase-4-Mangel Immundefekt, kombinierter schwerer Immundefekt durch selektiven Antipolysaccharid-Antikörper-Mangel Graft versus host-Krankheit, akute Immundysregulation-Polyendokrinopathie-Enteropathie-Syndrom, X-chromosomales WHIM-Syndrom Sonstige Immundefekt-Syndrome mit vorwiegendem Antikörper-Defekt Hyper-IgM-Syndrom ohne opportunistische Infektionen Spondyloenchondrodysplasie Hyper-IgM-Syndrom mit opportunistischen Infektionen Graft versus host-Krankheit, chronische Immundefekt durch MHC Klasse I-Expressionsdefekt Agammaglobulinämie ICF-Syndrom Dysplasie, immuno-ossäre Kleinwuchs durch isolierten Wachstumshormonmangel mit X-chromosomaler Hypogammaglobulinämie Fehlende Daumen-Kleinwuchs-Immundefekt-Syndrom DNA-Reparaturdefekt, ungleich kombinierter B- und T-Zell-Immundefekt T- und B-Zell-Immundefekt, kombinierter Immundefekt mit starker Reduktion von Serum-IgG und Serum-IgA bei normalem/erhöhtem IgM-Level und normaler Anzahl B-Zellen CINCA-Syndrom PFAPA-Syndrom Wiskott-Aldrich-Syndrom