SE-ATLAS

Immundefekt, kombinierter schwerer, durch DOCK8-Mangel Thiamin-responsive megaloblastäre Anämie mit Diabetes mellitus und sensorineuraler Schwerhörigkeit Immundefekt, kombinierter, durch LRBA-Mangel Immundefekt, kombinierter schwerer, durch Adenosin-Desaminase-Mangel Lebervenen-Verschlusskrankheit - Immunschwäche Aktivierendes PIK3-delta-Syndrom Kombinierter Immundefekt-Enteropathie-Spektrum Glutathionsynthetase-Mangel Immundefekt durch MHC Klasse I-Expressionsdefekt Immundefekt, X-chromosomaler, mit Magnesium-Defekt, Epstein-Barr-Virus-Infektion und Neoplasie Elliptozytose, hereditäre Thrombozytopenie, autoimmune Immundefektsyndrom, variables Panzytopenie durch IKZF1-Genmutationen Anämie, sideroblastische, X-chromosomale Erythroblastopenie, transiente, des Kindesalters Immundefekt, kombinierter, durch OX40-Mangel Beta-Thalassämie major Agammaglobulinämie, X-chromosomale Laron-Syndrom mit Immundefekt Anämie, dyserythropoetische, kongenitale, Typ I Beta-Thalassämie intermedia Sphärozytose, hereditäre Polyzythämie, genetisch bedingte Anämie, dyserythropoetische, kongenitale, Typ III Deletion 22q11 Delta-beta-Thalassämie Anämie, dyserythropoetische, kongenitale, Typ II Primäre Myelofibrose Primäre erworbene reine Aplasie der roten Blutkörperchen Beta-Thalassämie, dominante IRIDA-Syndrom Hämolytische Anämie durch Instabiles Hämoglobin Thrombozytose, familiäre Immundefekt, kombinierter, durch STK4-Mangel Anämie, autoimmun-hämolytische Hämoglobin C - Beta-Thalassämie Immundefekt, kombinierter schwerer, durch LCK-Mangel Retikuläre Dysgenesie Intrinsic-Faktor-Mangel, kongenitaler Alpha-Thalassämie Beta-Thalassämie Polyzythämie, sekundäre, autosomal-rezessive, nicht VHL-Gen-assoziierte Hämoglobin E - Beta-Thalassämie Anämie, dyserythropoetische kongenitale Hämolytisch-urämisches Syndrom, atypische Form Transcobalamin II-Mangel Ataxia-Teleangiectasia Glukose-6-Phosphat-Dehydrogenase-Mangel der Klasse I Methämoglobinämie, hereditäre Immundefekt, kombinierter schwerer, durch CARD11-Mangel Immundefekt, kombinierter, durch CD3-gamma-Mangel Netherton-Syndrom Diamond-Blackfan-Anämie Bloom-Syndrom Immundefekt, kombinierter schwerer, durch CORO1A-Mangel Hyper-IgM-Syndrom, X-chromosomales Polyzythämie, familiäre primäre Hämoglobinurie, nächtliche paroxysmale Kongenitale sideroblastische Anämie-B-Zell-Immundefekt-periodisches Fieber-Entwicklungsverzögerung-Syndrom Konstitutionelle dyserythropoetische Anämie Immundefekt, kombinierter schwerer, durch kompletten RAG1/2-Mangel Immundefekt, kombinierter schwerer, T- B+, durch CD45-Mangel X-chromosomale dyserythropoetische Anämie mit abnormen Blutplättchen und Neutropenie Immundefekt, kombinierter schwerer, T- B+, durch CD3delta/CD3epsilon/CD3zeta-Defekt Polyzythämie, sekundäre, kongenitale Form Sideroblastische Anämie, autosomal-rezessive Polycythaemia vera Sichelzellkrankheit HbSbeta-Thal Chuvash-Erythrozytose Sichelzellkrankheit HbSC Sichelzellanämie Immundefekt, kombinierter schwerer, T- B+ infolge JAK3-Mangel Sichelzellkrankheit HbSD X-chromosomale sideroblastische Anämie und spinozerebelläre Ataxie Essentielle Thrombozythämie Hemolytic anemia due to red cell pyruvate kinase deficiency Imerslund-Gräsbeck syndrome Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Schimke immuno-osseous dysplasia Severe combined immunodeficiency due to DCLRE1C deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency TCR-alpha-beta-positive T-cell deficiency RIDDLE syndrome X-linked lymphoproliferative disease Wiskott-Aldrich syndrome Combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency due to CD27 deficiency T-cell immunodeficiency with epidermodysplasia verruciformis Susceptibility to infection due to TYK2 deficiency Dyskeratosis congenita Combined immunodeficiency due to STIM1 deficiency Purine nucleoside phosphorylase deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation Omenn syndrome Severe combined immunodeficiency due to FOXN1 deficiency Nijmegen breakage syndrome Combined immunodeficiency due to MALT1 deficiency CHARGE syndrome Immunoglobulin heavy chain deficiency Cartilage-hair hypoplasia Hereditary folate malabsorption Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Ataxia-telangiectasia-like disorder ICF syndrome Severe combined immunodeficiency due to IKK2 deficiency Hyper-IgM syndrome type 3 Combined immunodeficiency due to ORAI1 deficiency Leukocyte adhesion deficiency type III Persistent polyclonal B-cell lymphocytosis Shwachman-Diamond syndrome Aicardi-Goutières syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Muckle-Wells syndrome Monocytopenia with susceptibility to infections DITRA Hermansky-Pudlak syndrome Syndromic multisystem autoimmune disease due to Itch deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Familial Mediterranean fever Hyperimmunoglobulinemia D with periodic fever Glycogen storage disease due to glucose-6-phosphatase deficiency Barth syndrome Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency FADD-related immunodeficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Poikiloderma with neutropenia X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Chronic granulomatous disease Autoimmune polyendocrinopathy type 1 Cyclic neutropenia Spondylometaphyseal dysplasia with combined immunodeficiency Predisposition to invasive fungal disease due to CARD9 deficiency CANDLE syndrome Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Herpes simplex virus encephalitis Immunodeficiency due to CD25 deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Kostmann syndrome Chédiak-Higashi syndrome CINCA syndrome Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Transient hypogammaglobulinemia of infancy Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome WHIM syndrome Recurrent infection due to specific granule deficiency Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Congenital neutropenia-myelofibrosis-nephromegaly syndrome Autoimmune lymphoproliferative syndrome Tumor necrosis factor receptor 1 associated periodic syndrome Sterile multifocal osteomyelitis with periostitis and pustulosis Cohen syndrome Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Familial cold urticaria Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Hyper-IgM syndrome type 2 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Blau syndrome Hyper-IgM syndrome type 5 X-linked severe congenital neutropenia Familial isolated congenital asplenia Autosomal dominant severe congenital neutropenia Majeed syndrome Susceptibility to localized juvenile periodontitis Hypohidrotic ectodermal dysplasia with immunodeficiency Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type I Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome PAPA syndrome Familial hemophagocytic lymphohistiocytosis Hereditary stomatocytosis Rare aplastic anemia Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Adult-onset autosomal recessive sideroblastic anemia Autosomal dominant secondary polycythemia Immunodeficiency predominantly affecting antibody production Quantitative and/or qualitative congenital phagocyte defect Primary immunodeficiency due to a defect in innate immunity Severe combined immunodeficiency Polycythemia Autoinflammatory syndrome of childhood Immune dysregulation disease with immunodeficiency Syndrome with combined immunodeficiency Fanconi anemia Rare anemia