Combined immunodeficiency due to ZAP70 deficiency (Q88895): Difference between revisions
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A deficiência de Zap-70 (proteína associada à cadeia zeta de 70 kD) é uma forma autossômica recessiva de imunodeficiência combinada grave (SCID) caracterizada pela falta de células T CD8+ e presença normal de células T CD4+ circulantes. A doença é extremamente rara, com apenas 12 pacientes de 8 famílias não relacionadas relatados até agora. Quase todos os pacientes com defeitos de Zap-70 apresentaram características clínicas típicas de SCID no início da vida: infecção pulmonar grave frequentemente por patógenos oportunistas (Pneumocystis carinii), diarreia crônica, déficit de crescimento e candidíase persistente. A deficiência de Zap-70 é fatal, a menos que os pacientes sejam submetidos a transplante de medula óssea (TMO). No futuro, a terapia genética pode parecer uma forma alternativa de tratamento. A maioria dos defeitos do gene ZAP-70 identificados em humanos impedem a expressão de proteínas e estão concentrados em uma região crítica para estabilidade e atividade enzimática. As mutações incluem inserções, deleções e substituições de um único nucleotídeo. O diagnóstico pré-natal por análise do DNA das vilosidades coriônicas pode ser realizado. | |||
| description / en | description / en | ||
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. | |||
Revision as of 15:17, 15 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1718367094 |
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| English | Combined immunodeficiency due to ZAP70 deficiency |
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. |
