SE-ATLAS

Dyskinésie ciliaire primitive Dermatomyosite juvénile Pneumopathie interstitielle secondaire spécifique de l'enfance associée à une vascularite systémique Déficit immunitaire dû à une anomalie de la cascade du complément Déficit immunitaire par déficit en CD25 Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel Syndrome LIG4 Syndrome de Barth Syndrome de dyskinésie ciliaire primitive-rétinite pigmentaire Maladie auto-inflammatoire associée à NLRP3 Syndrome JMP Pneumopathie interstitielle secondaire spécifique de l'enfance associée à une maladie granulomateuse Pneumopathie chronique de l'enfance Ataxie-télangiectasie-like Syndrome PAPA Déficit immunitaire primaire Pneumopathie interstitielle secondaire liée à l'environnement Sarcoïdose Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel Tuberculose Pneumopathie interstitielle secondaire spécifique de l'enfance associée à une maladie métabolique Syndrome immuno-neurologique lié à l'X Syndrome des ongles jaunes Syndrome de dysplasie osseuse à membres courts-déficit immunitaire combiné sévère Déficit immunitaire combiné par déficit en IL21R Maladie de Castleman de l'enfant Panbronchiolite diffuse Déficit en facteur C3 du complément Déficit immunitaire combiné par déficit en DOCK8 Pneumonie interstitielle non spécifique Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12RB1 Intoxication à l'amiante Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNgammaR2 Vascularite associée aux anticorps antineutrophiles cytoplasmiques Fibrose pulmonaire idiopathique Lupus érythémateux disséminé de l'enfant Maladie lymphoproliférative liée à l'X Déficit en chaîne lourde des immunoglobulines Syndrome lymphoprolifératif auto-immun Syndrome CANDLE Artérite à cellules géantes Prédisposition génétique aux infections à pathogènes particuliers Syndrome de Bloom Urticaire familiale au froid Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12B Severe combined immunodeficiency due to LCK deficiency Mixed connective tissue disease Neutrophil immunodeficiency syndrome Langerhans cell histiocytosis specific to childhood Osteopetrosis-hypogammaglobulinemia syndrome Lymphangioleiomyomatosis Vici syndrome Familial hemophagocytic lymphohistiocytosis Say-Barber-Miller syndrome Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Myeloperoxidase deficiency Hypocomplementemic urticarial vasculitis Papillon-Lefèvre syndrome Chronic beryllium disease Interstitial lung disease specific to adulthood Brain-lung-thyroid syndrome Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome CREST syndrome T-cell immunodeficiency with thymic aplasia Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Hajdu-Cheney syndrome Primary interstitial lung disease specific to adulthood Severe acute respiratory syndrome Dyskeratosis congenita Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Severe combined immunodeficiency due to DCLRE1C deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency Primary immunodeficiency syndrome due to LAMTOR2 deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Juvenile polymyositis Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Apnea of prematurity Combined immunodeficiency with granulomatosis Dianzani autoimmune lymphoproliferative disease Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Pulmonary interstitial glycogenosis Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections Interstitial lung disease Kawasaki disease Secondary interstitial lung disease specific to adulthood associated with a systemic disease Pulmonary alveolar microlithiasis Familial isolated congenital asplenia Takayasu arteritis Hyperzincemia and hypercalprotectinemia Pulmonary nodular lymphoid hyperplasia Pneumoconiosis Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Recurrent infection due to specific granule deficiency Neuroendocrine cell hyperplasia of infancy Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Transient hypogammaglobulinemia of infancy Hepatic veno-occlusive disease-immunodeficiency syndrome Postinfectious vasculitis Langerhans cell histiocytosis specific to adulthood Pearson syndrome Acute interstitial pneumonia Interstitial lung disease in childhood and adulthood Activated PI3K-delta syndrome Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease Chronic respiratory distress with surfactant metabolism deficiency Reactive arthritis Recurrent respiratory papillomatosis Immunodeficiency due to a classical component pathway complement deficiency Idiopathic bronchiectasis Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Lymphoid interstitial pneumonia Neonatal acute respiratory distress due to SP-B deficiency Idiopathic eosinophilic pneumonia Herpes simplex virus encephalitis Autoinflammatory syndrome of childhood Respiratory bronchiolitis-interstitial lung disease syndrome 22q11.2 deletion syndrome Immunodeficiency due to a late component of complement deficiency Combined immunodeficiency due to CARD11 deficiency Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Immunodeficiency by defective expression of MHC class II T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency Eosinophilic fasciitis Nijmegen breakage syndrome-like disorder Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Muckle-Wells syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Epidermodysplasia verruciformis Cryoglobulinemic vasculitis Siegler-Brewer-Carey syndrome PLCG2-associated antibody deficiency and immune dysregulation Constitutional neutropenia with extra-hematopoietic manifestations Oligoarticular juvenile idiopathic arthritis Primary interstitial lung disease in childhood and adulthood Chédiak-Higashi syndrome Isolated agammaglobulinemia Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Unspecified juvenile idiopathic arthritis Other immunodeficiency syndromes due to defects in innate immunity T-B- severe combined immunodeficiency Omenn syndrome Systemic-onset juvenile idiopathic arthritis T-B+ severe combined immunodeficiency due to CD45 deficiency Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Syndromic agammaglobulinemia Immunodeficiency due to ficolin3 deficiency Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Combined immunodeficiency due to STK4 deficiency Cartilage-hair hypoplasia Familial spontaneous pneumothorax Roifman syndrome Cystic fibrosis Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Polyarticular juvenile idiopathic arthritis X-linked severe congenital neutropenia Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to STIM1 deficiency Autoimmune polyendocrinopathy type 1 Diffuse alveolar hemorrhage Hereditary periodic fever syndrome Microscopic polyangiitis NLRP12-associated hereditary periodic fever syndrome X-linked mendelian susceptibility to mycobacterial diseases Kostmann syndrome Relapsing polychondritis Eosinophilic granulomatosis with polyangiitis Severe congenital neutropenia X-linked agammaglobulinemia Severe combined immunodeficiency due to DNA-PKcs deficiency Blau syndrome Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Autoinflammatory syndrome with immune deficiency Hoyeraal-Hreidarsson syndrome Periodic fever syndrome of childhood Combined immunodeficiency with facio-oculo-skeletal anomalies Deficiency in anterior pituitary function-variable immunodeficiency syndrome Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Severe combined immunodeficiency due to complete RAG1/2 deficiency Mixed autoinflammatory and autoimmune syndrome Psoriasis-related juvenile idiopathic arthritis Immunodeficiency with factor I anomaly Cohen syndrome Schimke immuno-osseous dysplasia Immunodeficiency due to absence of thymus Enthesitis-related juvenile idiopathic arthritis Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder Alpha-1-antitrypsin deficiency Laron syndrome with immunodeficiency 16q24.1 microdeletion syndrome Young syndrome Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder Pyogenic autoinflammatory syndrome of childhood Rare systemic or rheumatological disease of childhood Adult acute respiratory distress syndrome Syndrome with combined immunodeficiency Primary immunodeficiency due to a defect in adaptive immunity Immunodeficiency with factor H anomaly Autoimmune pulmonary alveolar proteinosis Unclassified autoinflammatory syndrome of childhood Mendelian susceptibility to mycobacterial diseases Hypohidrotic ectodermal dysplasia with immunodeficiency House allergic alveolitis Primary interstitial lung disease specific to childhood Farmer's lung disease Occupational allergic alveolitis Sterile multifocal osteomyelitis with periostitis and pustulosis Familial Mediterranean fever Hyper-IgE syndrome Secondary interstitial lung disease in childhood and adulthood Pigeon-breeder lung disease Infantile onset panniculitis with uveitis and systemic granulomatosis Granulomatous autoinflammatory syndrome of childhood Primary interstitial lung disease specific to childhood due to alveolar structure disorder Recurrent Neisseria infections due to factor D deficiency Common variable immunodeficiency Lichtenstein syndrome Infant acute respiratory distress syndrome Gorham-Stout disease Allergic bronchopulmonary aspergillosis Susceptibility to infection due to TYK2 deficiency Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease Tracheobronchopathia osteochondroplastica Cryptogenic organizing pneumonia Severe combined immunodeficiency FADD-related immunodeficiency Hereditary pulmonary alveolar proteinosis Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Meconium aspiration syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Bronchiolitis obliterans Idiopathic recurrent pericarditis Reticular dysgenesis Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Infantile apnea Autosomal dominant severe congenital neutropenia Hyper-IgM syndrome with susceptibility to opportunistic infections Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Purine nucleoside phosphorylase deficiency Immunoglobulin A vasculitis Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Unexplained periodic fever syndrome of childhood Overlapping connective tissue disease Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome WHIM syndrome Congenital alveolar capillary dysplasia Selective IgM deficiency Spondyloenchondrodysplasia Granulomatosis with polyangiitis DNA repair defect other than combined T-cell and B-cell immunodeficiencies Other immunodeficiency syndrome with predominantly antibody defects Primary interstitial lung disease specific to childhood due to alveolar vascular disorder Langerhans-Zell-Histiozytose des Kindes/Erwachsenen Seltene systemische Krankheit des Kindes Immundefekt durch MHC Klasse I-Expressionsdefekt Hyper-IgM-Syndrom ohne opportunistische Infektionen Osteoporose, idiopathische juvenile ICF-Syndrom T- und B-Zell-Immundefekt, kombinierter CD4-Lymphozytopenie, idiopathische Immundefekt mit starker Reduktion von Serum-IgG und Serum-IgA bei normalem/erhöhtem IgM-Level und normaler Anzahl B-Zellen Cernunnos/XLF-Mangel PFAPA-Syndrom Fehlende Daumen-Kleinwuchs-Immundefekt-Syndrom Wiskott-Aldrich-Syndrom CINCA-Syndrom Chylothorax, kongenitale Hereditäre fibröse Poikilodermie-Sehnenkontraktur-Myopathie-Lungenfibrose-Syndrom Seltene Vaskulitis des Kindes Tumornekrosefaktor-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom Agammaglobulinämie Dysplasie, immuno-ossäre Lungenfibrose - Leberhyperplasie - Knochenmarkhypoplasie Lungen-Hämosiderose, sekundäre Immundefekt, kombinierter, durch CD3-gamma-Mangel Arthritis, idiopathische juvenile Immundefekt, kombinierter schwerer, durch CORO1A-Mangel Immundefekt-Syndrom mit Autoimmunität Lymphoproliferative Krankheit, autosomal-rezessive Rezidivierende Infekte-Myelofibrose-Nephromegalie-Syndrom Immundefekt, kombinierter, durch ZAP70-Mangel Vaskulitis, Medikamenten-induzierte Lungen-Kapillaritis, isolierte Poikilodermie mit Neutropenie Rezidivierende Infekte mit assoziierten Immunoglobulin-Isotypen Pneumonie, nekrotisierende, Staphylokokken-induzierte Immundefekt mit vorwiegender Beeinträchtigung der Antikörper-Produktion Lungen-Hämosiderose, idiopathische Zwerchfellhernie, kongenitale Neutropenie, zyklische Lymphohistiozytose, hämophagozytische, primäre Lymphoproliferatives Syndrom Immundefekt-Syndrom mit Hypopigmentierung Panzytopenie durch IKZF1-Genmutationen T-Zell-Immundefekt mit Epidermodysplasia verruciformis Lymphangiektasie, pulmonale, kongenitale Schwere rekurrente Infektionen mit neutrophiler Dysfunktion Proteasom-assoziiertes autoinflammatorisches Syndrom Hypersensitivitätspneumonie Sekundäre interstitielle Lungenkrankheit des Kindes/Erwachsenen mit assoziierter Stoffwechselkrankheit Pneumonie, interstitielle, idiopathische Immundefekt, X-chromosomaler, mit Magnesium-Defekt, Epstein-Barr-Virus-Infektion und Neoplasie Vaskulitis, unklassifizierte Kombiniertes pulmonales fibrosierendes Emphysem-Syndrom Neutropenie - Monozytopenie - Schwerhörigkeit Interstitielle Lungenkrankheit, spezifische, des Kleinkindes Erhöhte Anfälligkeit für Atemwegsinfektionen durch CD8alpha-Defizienz Immundefekt, kombinierter, durch Defekt des CRAC-Kanals Kongenitale sideroblastische Anämie-B-Zell-Immundefekt-periodisches Fieber-Entwicklungsverzögerung-Syndrom Ataxia-Teleangiectasia Sekundäre interstitielle Lungenkrankheit des Kindes/Erwachsenen mit assoziierter systemischer Vaskultits Majeed-Syndrom Neutropenie, konstitutionelle Nijmegen-Chromosomenbruch-Syndrom Interstitielle Lungenkrankheit, sekundäre, spezifische, der Kindheit , mit assoziierter systemischer Krankheit Antikörper vermittelte Krankheit der glomerulären Basalmembran Properdin-Mangel Fieber-Syndrom, langanhaltendes unerklärbares Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch kompletten Defekt Cogan-Syndrom Autoimmunkrankheit, multisystemische syndromale, durch Itch-Mangel Immundefekt, kombinierter, durch partiellen RAG1-Mangel Leukozytenadhäsionsdefekt Desquamative interstitielle Pneumonie Primärer Immundefekt durch Anomalie des angeborenen Immunsystems Primärer Immundefekt mit Mangel der natürlichen Killerzellen und Nebenniereninsuffizienz Interstitielle Lungenkrankheit, Substanz- oder Strahleninduzierte Agammaglobulinämie, autosomal-rezessive Schwere Dermatitis-multiple Allergien-metabolischer Verlust-Syndrom Interstitielle Lungenkrankheit, sekundäre, spezifische, der Kindheit , mit assoziierter Bindegewebskrankheit RAS-assoziierte autoimmun-lymphoproliferative Krankheit Sweet-Syndrom Candidose, chronische mukokutane Granulomatose, chronische Monozytopenie mit erhöhter Infektionsanfälligkeit Sklerodermie Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R1-Defekt Behçet-Syndrom Immundefekt, kombinierter schwerer, durch FOXN1-Defizienz Lungenverletzung, akute Plötzlicher Kindstod - Hodendysgenesie Dermatomyositis Xq28-Duplikationssyndrom, proximales Shwachman-Diamond-Syndrom Immundefekt durch MASP-2-Mangel Arthritis, idiopathische juvenile polyartikuläre, Rheumafaktor-positive Interstitielle Lungenkrankheit, spezifische, der Kindheit