SE-ATLAS

Severe combined immunodeficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Cernunnos-XLF deficiency Immunodeficiency by defective expression of MHC class II Severe combined immunodeficiency due to adenosine deaminase deficiency Immunodeficiency by defective expression of MHC class I Absent thumb-short stature-immunodeficiency syndrome Immunodeficiency due to CD25 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Genetic immune deficiency with skin involvement Facial dysmorphism-immunodeficiency-livedo-short stature syndrome CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome Good syndrome Immunodeficiency due to MASP-2 deficiency Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Immunodeficiency due to a complement regulatory deficiency Immunodeficiency due to a complement cascade component deficiency Immunodeficiency due to a classical component pathway complement deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency Autoinflammatory syndrome with immune deficiency Severe combined immunodeficiency due to DCLRE1C deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency Combined immunodeficiency-enteropathy spectrum Immune deficiency with skin involvement Combined immunodeficiency due to RELA haploinsufficiency Non-severe combined immunodeficiency Common variable immunodeficiency Pancytopenia due to IKZF1 mutations Acquired immunodeficiency Combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to DOCK8 deficiency Primary immunodeficiency with predisposition to severe viral infection Laron syndrome with immunodeficiency Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Primary immunodeficiency due to a defect in adaptive immunity PLCG2-associated antibody deficiency and immune dysregulation Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to CD70 deficiency Severe combined immunodeficiency due to LCK deficiency Combined immunodeficiency due to CARMIL2 deficiency Immunodeficiency predominantly affecting antibody production Combined immunodeficiency due to ITK deficiency Combined immunodeficiency due to LRBA deficiency Primary immunodeficiency due to a defect in innate immunity Immunodeficiency due to a complement cascade protein anomaly Combined immunodeficiency due to CARD11 deficiency FADD-related immunodeficiency Combined immunodeficiency due to FCHO1 deficiency Combined immunodeficiency due to CD3gamma deficiency Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Griscelli syndrome Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency DNA repair defect other than combined T-cell and B-cell immunodeficiencies Combined immunodeficiency due to CRAC channel dysfunction Omenn syndrome Severe combined immunodeficiency due to FOXN1 deficiency Nijmegen breakage syndrome Immunodeficiency syndrome with autoimmunity Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to GINS1 deficiency Combined immunodeficiency due to ZAP70 deficiency Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency Maladie avec dérèglement et déficit immunitaire Syndrome de déficit immunitaire neutrophile Syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX Déficit immunitaire combiné sévère par déficit en CORO1A PGM3-CDG Déficit immunitaire combiné autosomique récessif par déficit partiel en IL6ST Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit complet du récepteur RORgamma Déficit immunitaire combiné par déficit en CD27 Déficit immunitaire par défaut de phagocytose et migration des neutrophiles Déficit immunitaire par déficit en ficoline 3 Déficit immunitaire combiné autosomique dominant par déficit partiel en IL6ST Immunodéficience hyper-inflammatoire lymphoproliférative familiale Déficit immunitaire par déficit des composés terminaux de la voie classique du complément Déficit immunitaire combiné lié à l'X par déficit en SASH3 Déficit immunitaire combiné sévère T-B+ par déficit en IL-7Ralpha Syndrome d'anémie sidéroblastique congénitale-déficit immunitaire en cellules B-fièvre périodique-retard de développement Déficit immunitaire combiné sévère par déficit complet en RAG1/2 Syndrome de déficit immunitaire en lymphocytes B-anomalie des membres-malformation urogénitale Déficit immunitaire combiné sévère T-B+ par déficit en CD45 Déficit immunitaire combiné sévère T-B+ par déficit en CD3delta/epsilon/zêta Déficit immunitaire combiné autosomique récessif par déficit en IL6R Déficit immunitaire combiné sévère par déficit en CTPS1 Déficit immunitaire combiné sévère par déficit en IKK2 Syndrome de dysplasie ectodermique anhidrotique-déficit immunitaire-ostéopétrose-lymphoedème Déficit immunitaire associé à une anomalie du facteur I Syndrome de fièvre périodique-immunodéficience-thrombocytopénie Déficit immunitaire avec déficit d'isotype ou de chaînes légères et nombre normal de cellules B Déficit immunitaire associé à une anomalie du facteur H Déficit immunitaire combiné sévère T-B+ Déficit immunitaire avec diminution sévère des IgG et IgA et taux normal ou élevé d'IgM avec nombre normal de cellules B Déficit immunitaire combiné sévère T-B- Déficit immunitaire combiné par déficit en ORAI1 Combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency due to STIM1 deficiency Immunodeficiency-associated lymphoproliferative disease Severe combined immunodeficiency due to DNA-PKcs deficiency NIK deficiency Hoyeraal-Hreidarsson syndrome Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Hypohidrotic ectodermal dysplasia with immunodeficiency Combined immunodeficiency with granulomatosis Combined immunodeficiency due to DOCK2 deficiency T-cell immunodeficiency with thymic aplasia Autosomal dominant combined immunodeficiency due to ERBIN deficiency X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Say-Barber-Miller syndrome Reticular dysgenesis Combined T and B cell immunodeficiency Deficiency in anterior pituitary function-variable immunodeficiency syndrome Primary immunodeficiency Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Methylenetetrahydrofolate dehydrogenase 1 deficiency Spondylometaphyseal dysplasia with combined immunodeficiency RIDDLE syndrome Wiskott-Aldrich syndrome Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Primary immunodeficiency syndrome due to LAMTOR2 deficiency Short-limb skeletal dysplasia with severe combined immunodeficiency Other immunodeficiency syndromes due to defects in innate immunity T-cell immunodeficiency with epidermodysplasia verruciformis Severe combined immunodeficiency due to LAT deficiency Immunodeficiency due to absence of thymus Syndrome with combined immunodeficiency Combined immunodeficiency due to Moesin deficiency Combined immunodeficiency due to TFRC deficiency LIG4 syndrome Other immunodeficiency syndrome with predominantly antibody defects T+ B+ severe combined immunodeficiency Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome