{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CVID phenotype due to germinal monogenic mutation","Monogenic CVID phenotype","Monogenic common variable immunodeficiency phenotype"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-696870/","orphanet_url":"https://www.orpha.net/en/disease/detail/696870","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable associé à une mutation monogénique","synonyms":["Phénotype d'immunodéficience commune variable monogénique","Phénotype de CVID monogénique","Phénotype de DICV monogénique","Phénotype de déficit immunitaire commun variable monogénique"]},"de":{"name":"Variables Immundefekt-Syndrom durch monogenetische Keimbahnmutationen","synonyms":["CVID durch monogenetische Mutationen der Keimbahn"]},"es":{"name":"Fenotipo de inmunodeficiencia común variable por mutación monogénica germinal","synonyms":["Fenotipo de IDCV monogénica","Fenotipo de IDCV por mutación monogénica germinal","Fenotipo de inmunodeficiencia común variable monogénica"]},"it":{"name":"Fenotipo dell’immunodeficienza comune variabile da mutazione germinale monogenica","synonyms":["Fenotipo della CVID da mutazione germinale monogenica","Fenotipo della CVID monogenica","Fenotipo dell'immunodeficienza comune variabile monogenica"]},"nl":{"name":"Fenotype van gewone variabele immuundeficiëntie door monogene kiembaanmutatie","synonyms":["CVID-fenotype door monogene kiembaanmutatie","Fenotype van monogene gewone variabele immuundeficiëntie","Monogeen CVID-fenotype"]},"pt":{"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation"},"pl":{"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","synonyms":["CVID phenotype due to germinal monogenic mutation","Monogenic CVID phenotype","Monogenic common variable immunodeficiency phenotype"]},"cs":{"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","synonyms":["CVID phenotype due to germinal monogenic mutation","Monogenic CVID phenotype","Monogenic common variable immunodeficiency phenotype"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":696851,"name":"Common variable immunodeficiency and related disorders","classifications":[156,195]}],"children":[{"orpha":692790,"name":"ATP6AP1-CDG","type":"Disease"},{"orpha":397596,"name":"Activated PI3K-delta syndrome","type":"Clinical group"},{"orpha":696925,"name":"Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency","type":"Disease"},{"orpha":696942,"name":"Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency","type":"Disease"},{"orpha":696881,"name":"Common variable immunodeficiency phenotype due to CD19/CD81 deficiency","type":"Disease"},{"orpha":696894,"name":"Common variable immunodeficiency phenotype due to CD21 deficiency","type":"Disease"},{"orpha":317473,"name":"Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency","type":"Disease"},{"orpha":696904,"name":"Common variable immunodeficiency phenotype due to IRF2BP2 deficiency","type":"Disease"},{"orpha":697417,"name":"Common variable immunodeficiency phenotype due to SEC61A1 deficiency","type":"Disease"},{"orpha":696931,"name":"Common variable immunodeficiency phenotype due to TWEAK deficiency","type":"Disease"},{"orpha":696907,"name":"Common variable immunodeficiency phenotype due to homozygous TACI deficiency","type":"Disease"},{"orpha":369861,"name":"Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome","type":"Disease"},{"orpha":293978,"name":"Deficiency in anterior pituitary function-variable immunodeficiency syndrome","type":"Disease"},{"orpha":3240,"name":"Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome","type":"Disease"},{"orpha":79330,"name":"MOGS-CDG","type":"Disease"},{"orpha":696874,"name":"NFKB1-related immune dysregulation","type":"Disease"},{"orpha":696945,"name":"X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}