{"orpha":699578,"name":"Combined immunodeficiency with low Ig due to BCL10 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID with low Ig due to BCL10 deficiency","Combined immunodeficiency with low Ig due to B-cell lymphoma 10 immune signaling adaptor deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-699578/","orphanet_url":"https://www.orpha.net/en/disease/detail/699578","names":{"fr":{"name":"Déficit immunitaire combiné avec faibles Ig par déficit en BCL10","synonyms":["CID avec faibles Ig par déficit en BCL10","DIC avec faibles Ig par déficit en BCL10","Déficit immunitaire combiné avec immuloglobulines faibles par déficit en protéine B-cell lymphoma 10 immune signaling adaptor","Immunodéficience combinée avec faibles Ig par déficit en BCL10"]},"de":{"name":"Immundefekt, kombinierter, durch BCL10-Mangel","synonyms":["CID durch BCL10-Defizienz"]},"es":{"name":"Inmunodeficiencia combinada con niveles bajos de Ig por deficiencia de BCL10","synonyms":["IDC con niveles bajos de Ig por deficiencia de BCL10","Inmunodeficiencia combinada con niveles bajos de Ig por deficiencia del adaptador de señalización inmunológica del linfoma de células B10"]},"it":{"name":"Immunodeficienza combinata con livelli bassi di Ig da deficit di BCL10","synonyms":["CID con livelli bassi di Ig da deficit di BCL10","Immunodeficienza combinata con livelli bassi di Ig da deficit dell'adattatore di segnalazione immunitaria del linfoma a cellule B 10"]},"nl":{"name":"Gecombineerde immuundeficiëntie met lage Ig door BCL10-deficiëntie","synonyms":["CID met lage Ig door BCL10-deficiëntie","Gecombineerde immuundeficiëntie met lage Ig door deficiëntie van adaptor van B-cellymfoom 10 immuunsignalering"]},"pt":{"name":"Combined immunodeficiency with low Ig due to BCL10 deficiency"},"pl":{"name":"Combined immunodeficiency with low Ig due to BCL10 deficiency","synonyms":["CID with low Ig due to BCL10 deficiency","Combined immunodeficiency with low Ig due to B-cell lymphoma 10 immune signaling adaptor deficiency"]},"cs":{"name":"Combined immunodeficiency with low Ig due to BCL10 deficiency","synonyms":["CID with low Ig due to BCL10 deficiency","Combined immunodeficiency with low Ig due to B-cell lymphoma 10 immune signaling adaptor deficiency"]}},"xrefs":[{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688571,"name":"Combined immunodeficiency with low immunoglobulins and normal B cells","classifications":[156,195,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"38129623[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38129623[PMID]_ORPHANET"}],"phenotypes":null}