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 Severe dermatitis-multiple allergies-metabolic wasting syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome X-linked severe congenital neutropenia Immunodeficiency due to ficolin3 deficiency Ataxia-telangiectasia-like disorder Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Functional neutrophil defect Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency PAPA syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Familial hemophagocytic lymphohistiocytosis Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency T-B+ severe combined immunodeficiency Familial isolated congenital asplenia WHIM syndrome Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Severe combined immunodeficiency Say-Barber-Miller syndrome T+ B+ severe combined immunodeficiency Kostmann syndrome Primary immunodeficiency due to a defect in adaptive immunity Epidermodysplasia verruciformis Immunodeficiency with factor H anomaly Muckle-Wells syndrome Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Myeloperoxidase deficiency Combined immunodeficiency due to STK4 deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Susceptibility to infection due to TYK2 deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation X-linked agammaglobulinemia Syndrome de Hermansky-Pudlak par déficit en AP-3 Syndrome de PI3K-delta activé Déficit en anticorps spécifiques avec une quantité normale d'immunoglobuline et de cellules B Syndrome de Papillon-Lefèvre Syndrome de Griscelli type 2 Syndrome de neutropénie-monocytopénie-surdité Syndrome de Blau Syndrome de Chédiak-Higashi Dysplasie ectodermique hypohidrotique avec déficit immunitaire Syndrome immuno-neurologique lié à l'X Hyperzincémie et hypercalprotectinémie Dysplasie spondylo-enchondrale Syndrome de Roifman Neutropénie congénitale sévère Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel en IFNgammaR2 Anomalie de réparation de l'ADN autre qu'un déficit immunitaire combiné à cellules B et T Agammaglobulinémie isolée Déficit immunitaire combiné par dysfonctionnement du canal CRAC Syndrome de dysplasie osseuse à membres courts-déficit immunitaire combiné sévère Infection récurrente par déficit en granules spécifiques Syndrome de Hoyeraal-Hreidarsson Syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques Ataxie-télangiectasie Déficit immunitaire par absence de thymus Prédisposition mendélienne aux infections mycobactériennes Syndrome de neutropenie congénitale-myélofibrose-néphromégalie Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12B Syndrome de Majeed Déficit immunitaire combiné par déficit en DOCK8 Déficit immunitaire lié à FADD Syndrome d'Omenn Déficit immunitaire par déficit en MASP-2 Déficit immunitaire en lymphocytes T avec aplasie du thymus Déficit immunitaire combiné sévère par déficit en LCK Déficit immunitaire combiné avec anomalies faciooculosquelettiques Neutropénie constitutionnelle Syndrome de maladie veino-occlusive hépatique-déficit immunitaire Maladie avec dérèglement et déficit immunitaire Syndrome de Nijmegen Déficit immunitaire combiné par déficit en ORAI1 Hypoglammaglobulinémie transitoire de l'enfance Déficit immunitaire combiné sévère T-B+ par déficit en CD45 Glycogénose par déficit en glucose-6-phosphatase de type Ib Déficit en properdine Déficit immunitaire combiné par déficit en CARD11 Syndrome hyper-IgM sans susceptibilité aux infections opportunistes Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en STAT1 Prédisposition mendélienne aux infections mycobactériennes liée à l'X par déficit en IKBKG Syndrome de Pearson Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel Déficit immunitaire par déficit d'expression des molécules CMH de classe I Syndrome ICF