SE-ATLAS

Good-Syndrom Lymphohistiozytose, hämophagozytische, erworbene, mit assoziierter maligner Krankheit Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R2-Defekt Sarkoidose Immuno-neurologische Krankheit, X-chromosomale CANDLE-Syndrom Ataxia-Teleangiectasia-ähnliche Krankheit Skelettdysplasie mit verkürzten Extremitäten und schwerem kombinierten Immundefekt Behçet-Syndrom Kombinierter Immundefekt durch IL21R-Mangel Makrophagen-Aktivierungssyndrom Vaskulitis mit assoziierten antineutrophilen zytoplasmatischen Antikörpern JMP-Syndrom Defekt der schweren Immunglobulinkette Castleman-Krankheit des Kindesalters Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen Defekt Immundefekt, kombinierter schwerer, durch DOCK8-Mangel Neutrophiles Immundefekt-Syndrom Graft versus host-Krankheit Osteopetrose-Hypogammaglobulinämie-Syndrom Lymphoproliferative Krankheit, X-chromosomale Autoimmun-lymphoproliferatives Syndrom Riesenzell-Arteriitis Bloom-Syndrom Suszeptibilität für Mykobakteriosen durch kompletten IL12B-Defekt Lupus erythematodes, systemischer, des Kindesalters Komplement-Komponente 3-Mangel T-Zell-Leukämie mit großen granulären Lymphozyten Kryoglobulinämie, gemischte, Typ III Kälte-Urtikaria, familiäre Mischkollagenose Suszeptibilität für Mykobakteriosen durch kompletten IL12RB1-Defekt Kryoglobulinämie, gemischte, Typ II Vici-Syndrom Shwachman-Diamond-Syndrom Genetische Prädisposition für Infektionen durch spezifische Pathogene Suszeptibilität für Mykobakteriosen durch kompletten ISG15-Defekt Lymphohistiozytose, hämophagozytische, familiäre Form Vaskulitis, hypokomplementämische urtikarielle Say-Barber-Miller-Syndrom Hyper-IgE-Syndrom, autosomal-dominantes Myeloperoxidase-Mangel Papillon-Lefèvre-Syndrom Suszeptibilität für Bakterieninfektion durch TLR Signalweg-Defizienz T-Zell-Immundefekt mit Thymusaplasie Immundefekt, kombinierter schwerer, durch LCK-Mangel CREST-Syndrom Hajdu-Cheney-Syndrom Dyskeratosis congenita Immundefekt, kombinierter schwerer, durch DCLRE1C-Mangel Autoimmun-lymphoproliferatives Syndrom mit rezidivierenden Infekten Polymyositis, juvenile Leukozytenadhäsionsdefekt Typ I Immundefekt, kombinierter schwerer, durch Gamma-Ketten-Defekt, T- B+ Immundefekt, kombinierter schwerer, durch Adenosin-Desaminase-Mangel Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R2-Defekt Leukozytenadhäsionsdefekt Typ III Primäres Immundefekt-Syndrom durch LAMTOR2-Defizienz Leukozytenadhäsionsdefekt Typ II Gesichtsdysmorphie-Immundefekt-Livedo-Kleinwuchs-Syndrom Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R1-Defekt Immundefekt, kombinierter, mit Granulomatose Agammaglobulinämie-Mikrozephalie-Kraniosynostose-schwere Dermatitis-Syndrom Empfänglichkeit für virale und mykobakterielle Infektionen durch STAT1-Defizienz Transiente Hypogammaglobulinämie der Kindheit Felty-Syndrom Hyperimmunisierung Asplenie, familiäre isolierte, kongenitale Kawasaki-Krankheit Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R1-Defekt Aktivierendes PIK3-delta-Syndrom Neutropenie, kongenitale schwere, autosomal-rezessive, durch G6PC3-Mangel Takayasu-Arteriitis Autoinflammatorisches Syndrom der Kindheit Lungenfibrose - Immundefekt - Gonadendysgenesie Vaskulitis, postinfektiöse Lebervenen-Verschlusskrankheit - Immunschwäche Hyperzinkämie und Hypercalprotectinämie Autoimmun-lymphoproliferative Krankheit vom Typ Dianzani Glykogenose Typ 1b Pearson-Syndrom Rekurrente Infektionen durch spezifischen Granulamangel Arthritis, idiopathische juvenile, oligoartikuläre, mit anti-nukleären Antikörpern Arthritis, reaktive Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R2-Defekt Arthritis, idiopathische juvenile, oligoartikuläre, ohne anti-nukleäre Antikörper Immundefekt durch klassischen Komponentenmangel des Komplementsystems Herpes-simplex-Enzephalitis PLCG2-associated antibody deficiency and immune dysregulation Deletion 22q11 Hyper-IgM-Syndrom Typ 2 Konstitutionelle Neutropenie mit extrahämatopoetischen Manifestationen Hyper-IgM-Syndrom, X-chromosomales Nakajo-Nishimura-Syndrom Hyper-IgM-Syndrom Typ 4 Immundefekt, kombinierter schwerer, T- B+ infolge JAK3-Mangel Hyper-IgM-Syndrom Typ 3 Arthritis, idiopathische juvenile polyartikuläre, Rheumafaktor-negative Immundefekt durch MHC Klasse II-Expressionsdefekt Immundefekt durch Komplementdefekt bei Störung einer späten Komponente Hyper-IgM-Syndrom Typ 5 Fasziitis, eosinophile Immundefekt, erworbener Arthritis, idiopathische juvenile, oligoartikuläre Arthritis, idiopathische juvenile, Rheumafaktor-negative, mit anti-nukleären Antikörpern Immundefekt, kombinierter schwerer, T- B+, durch CD45-Mangel Muckle-Wells-Syndrom Epidermodysplasia verruciformis Kryoglobulinämische Vaskulitis Immundefekt, kombinierter schwerer, T-B+ Suszeptibilität für Mykobakteriosen durch partiellen IRF8-Defekt Sonstiges Immundefekt-Syndrom durch Störung der adaptiven Immunität Immundefekt, kombinierter schwerer, T- B+, durch IL-7Ralpha-Mangel Immundefekt, kombinierter, durch STK4-Mangel Chédiak-Higashi-Syndrom Nijmegen-Breakage-Syndrom-ähnliche Krankheit Arthritis, idiopathische juvenile, unklassifizierte Immundefekt, kombinierter schwerer, T- B+, durch CD3delta/CD3epsilon/CD3zeta-Defekt Omenn-Syndrom Immundefekt, kombinierter schwerer, durch CARD11-Mangel Arthritis, idiopathische juvenile, systemische Immundefekt durch MASP-2-Mangel Agammaglobulinämie, isolierte Suszeptibilität für Mykobakteriosen durch partielle STAT1-Defizienz Immundefekt durch Ficolin-3-Mangel Immundefekt, kombinierter schwerer, durch DNA-PKcs-Mangel Arthritis, idiopathische juvenile, Rheumafaktor-negative, ohne anti-nukleäre Antikörper Knorpel-Haar-Hypoplasie Roifman-Syndrom Autoimmune Enteropathie und Endokrinopathie-Empfänglichkeit für chronische Infektionen-Syndrom Arthritis, idiopathische juvenile, polyartikuläre Agammaglobulinämie, syndromale Immundefekt, kombinierter schwerer, T-B- Autoimmun-Polyendokrinopathie Typ 1 Suszeptibilität für Mykobakteriosen, X-chromosomal Neutropenie, kongenitale schwere, X-chromosomale Hereditäres periodisches Fiebersyndrom Polyangiitis, mikroskopische Kostmann-Syndrom Combined immunodeficiency with facio-oculo-skeletal anomalies Relapsing polychondritis Eosinophilic granulomatosis with polyangiitis X-linked agammaglobulinemia Blau syndrome Severe congenital neutropenia Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Autoinflammatory syndrome with immune deficiency Hoyeraal-Hreidarsson syndrome NLRP12-associated hereditary periodic fever syndrome Combined immunodeficiency due to ORAI1 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Combined immunodeficiency due to STIM1 deficiency Mixed autoinflammatory and autoimmune syndrome Acquired neutropenia X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Rare systemic or rheumatological disease of childhood Laron syndrome with immunodeficiency Pyogenic autoinflammatory syndrome of childhood Psoriasis-related juvenile idiopathic arthritis Syndrome with combined immunodeficiency Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Enthesitis-related juvenile idiopathic arthritis Cohen syndrome Schimke immuno-osseous dysplasia Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Primary immunodeficiency due to a defect in adaptive immunity Deficiency in anterior pituitary function-variable immunodeficiency syndrome Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Periodic fever syndrome of childhood Immunodeficiency with factor I anomaly Susceptibility to infection due to TYK2 deficiency Hereditary neutrophilia Hypohidrotic ectodermal dysplasia with immunodeficiency Unclassified autoinflammatory syndrome of childhood Immunodeficiency with factor H anomaly Mendelian susceptibility to mycobacterial diseases Recurrent Neisseria infections due to factor D deficiency Immunodeficiency due to absence of thymus Hyper-IgE syndrome Familial Mediterranean fever Granulomatous autoinflammatory syndrome of childhood Hyperimmunoglobulinemia D with periodic fever Idiopathic recurrent pericarditis Lichtenstein syndrome Common variable immunodeficiency Unexplained periodic fever syndrome of childhood Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Gorham-Stout disease Selective IgM deficiency Sterile multifocal osteomyelitis with periostitis and pustulosis Infantile onset panniculitis with uveitis and systemic granulomatosis FADD-related immunodeficiency Reticular dysgenesis Severe combined immunodeficiency Rare immune disease Autosomal dominant severe congenital neutropenia Immunodeficiency due to selective anti-polysaccharide antibody deficiency Purine nucleoside phosphorylase deficiency Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Immunoglobulin A vasculitis Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Rare pediatric vasculitis WHIM syndrome Granulomatosis with polyangiitis Other immunodeficiency syndrome with predominantly antibody defects Spondyloenchondrodysplasia Chronic graft versus host disease Overlapping connective tissue disease Hyper-IgM syndrome with susceptibility to opportunistic infections Acute graft versus host disease Idiopathic juvenile osteoporosis Agammaglobulinemia Immunodeficiency by defective expression of MHC class I Immuno-osseous dysplasia Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells ICF syndrome Hyper-IgM syndrome without susceptibility to opportunistic infections Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Absent thumb-short stature-immunodeficiency syndrome DNA repair defect other than combined T-cell and B-cell immunodeficiencies CINCA syndrome Cernunnos-XLF deficiency Wiskott-Aldrich syndrome PFAPA syndrome T-cell immunodeficiency with epidermodysplasia verruciformis X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Hemophagocytic syndrome Combined T and B cell immunodeficiency Idiopathic CD4 lymphocytopenia Proteasome-associated autoinflammatory syndrome Congenital neutropenia-myelofibrosis-nephromegaly syndrome Tumor necrosis factor receptor 1 associated periodic syndrome Twin to twin transfusion syndrome Juvenile idiopathic arthritis Unclassified vasculitis Combined immunodeficiency due to ZAP70 deficiency Rare pediatric systemic disease Immunodeficiency predominantly affecting antibody production Hermansky-Pudlak syndrome due to AP-3 deficiency Severe combined immunodeficiency due to CORO1A deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Pancytopenia due to IKZF1 mutations Combined immunodeficiency due to CD27 deficiency Cyclic neutropenia Poikiloderma with neutropenia Immunodeficiency syndrome with autoimmunity Immunodeficiency syndrome with hypopigmentation Drug-induced vasculitis Combined immunodeficiency due to CD3gamma deficiency Adult idiopathic neutropenia Griscelli syndrome type 2 Unexplained long-lasting fever/inflammatory syndrome Functional neutrophil defect Immune dysregulation disease with immunodeficiency Secondary hemophagocytic lymphohistiocytosis Majeed syndrome Neutropenia-monocytopenia-deafness syndrome Lymphoproliferative syndrome Primary hemophagocytic lymphohistiocytosis Susceptibility to respiratory infections associated with CD8alpha chain mutation Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Ataxia-telangiectasia Monocytopenia with susceptibility to infections Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Nijmegen breakage syndrome Properdin deficiency Combined immunodeficiency due to CRAC channel dysfunction Autosomal agammaglobulinemia Primary immunodeficiency due to a defect in innate immunity Cogan syndrome Leukocyte adhesion deficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Severe dermatitis-multiple allergies-metabolic wasting syndrome Constitutional neutropenia Hemophagocytic syndrome associated with an infection Combined immunodeficiency due to partial RAG1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Syndromic multisystem autoimmune disease due to Itch deficiency Sweet syndrome Chronic granulomatous disease NLRP3-associated autoinflammatory disease Chronic mucocutaneous candidiasis Severe combined immunodeficiency due to FOXN1 deficiency Immunodeficiency due to a complement cascade protein anomaly RAS-associated autoimmune leukoproliferative disease Juvenile dermatomyositis LIG4 syndrome Immunodeficiency due to CD25 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Barth syndrome Primary immunodeficiency PAPA syndrome