{"entities":{"Q88895":{"pageid":79280,"ns":120,"title":"Item:Q88895","lastrevid":489936,"modified":"2026-08-15T15:17:21Z","type":"item","id":"Q88895","labels":{"mul":{"language":"mul","value":"ID_1718367094"},"pt-br":{"language":"pt-br","value":"Imunodefici\u00eancia combinada devida \u00e0 defici\u00eancia de ZAP70"},"en":{"language":"en","value":"Combined immunodeficiency due to ZAP70 deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A defici\u00eancia de Zap-70 (prote\u00edna associada \u00e0 cadeia zeta de 70 kD) \u00e9 uma forma autoss\u00f4mica recessiva de imunodefici\u00eancia combinada grave (SCID) caracterizada pela falta de c\u00e9lulas T CD8+ e presen\u00e7a normal de c\u00e9lulas T CD4+ circulantes. A doen\u00e7a \u00e9 extremamente rara, com apenas 12 pacientes de 8 fam\u00edlias n\u00e3o relacionadas relatados at\u00e9 agora. Quase todos os pacientes com defeitos de Zap-70 apresentaram caracter\u00edsticas cl\u00ednicas t\u00edpicas de SCID no in\u00edcio da vida: infec\u00e7\u00e3o pulmonar grave frequentemente por pat\u00f3genos oportunistas (Pneumocystis carinii), diarreia cr\u00f4nica, d\u00e9ficit de crescimento e candid\u00edase persistente. A defici\u00eancia de Zap-70 \u00e9 fatal, a menos que os pacientes sejam submetidos a transplante de medula \u00f3ssea (TMO). No futuro, a terapia gen\u00e9tica pode parecer uma forma alternativa de tratamento. A maioria dos defeitos do gene ZAP-70 identificados em humanos impedem a express\u00e3o de prote\u00ednas e est\u00e3o concentrados em uma regi\u00e3o cr\u00edtica para estabilidade e atividade enzim\u00e1tica. As muta\u00e7\u00f5es incluem inser\u00e7\u00f5es, dele\u00e7\u00f5es e substitui\u00e7\u00f5es de um \u00fanico nucleot\u00eddeo. O diagn\u00f3stico pr\u00e9-natal por an\u00e1lise do DNA das vilosidades cori\u00f4nicas pode ser realizado."},"en":{"language":"en","value":"Zap-70 (zeta-chain-associated protein 70 kD) deficiency is an autosomal recessive form of severe combined immune deficiency (SCID) that is characterised by lack of CD8+ T cells and normal presence of circulating CD4+ T cells. The disease is extremely rare, with only 12 patients from 8 unrelated families reported so far. Nearly all patients with Zap-70 defects presented with typical clinical features of SCID in early life: severe pulmonary infection often sustained by opportunistic pathogens (Pneumocystis carinii), chronic diarrhoea, failure to thrive, and persistent candidiasis. Zap-70 deficiency is ultimately fatal unless patients undergo bone marrow transplantation (BMT). In the future, gene therapy could appear to be an alternative form of treatment. Most of the ZAP-70 gene defects identified in humans prevent protein expression and are concentrated in a region that is critical for stability and enzymatic activity. Mutations include insertions, deletions, and substitutions of a single nucleotide. Antenatal diagnosis by analysis of chorionic villi DNA can be carried out."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"fa93f5a26bf5f00b5ee235341a660e0c2f667111","datavalue":{"value":"https://id.who.int/icd/entity/1718367094","type":"string"},"datatype":"url"},"type":"statement","id":"Q88895$F14A7CB2-B5C1-45F8-9BD9-DE933BBABFF4","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"db6126481f4caa8721faba2ed85d56492f9500e9","datavalue":{"value":"CID11:ID_1718367094","type":"string"},"datatype":"string"},"type":"statement","id":"Q88895$E9595658-D6D4-440D-A5E2-7AD9D5DD47A4","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"13a569b8ec988009b91be2416dc386e0d4391268","datavalue":{"value":"dki-india-ID_1718367094","type":"string"},"datatype":"string"},"type":"statement","id":"Q88895$4B61C14E-BB5F-4EE1-A685-915DE6AEDB90","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q88895$EA9171CA-9EA4-4A99-8A58-841FEEFF64B5","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q88895$B68970F2-8E54-4E44-89FD-CFA7CA1C5962","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q88895$BCCAD0D4-50A2-413B-87E3-52E100C49699","rank":"normal"}]},"sitelinks":{}}}}