Preferred Label : Combined immunodeficiency due to ZAP70 deficiency;
ICD-11 definition : Zap-70 (zeta-chain-associated protein 70 kD) deficiency is an autosomal recessive
form of severe combined immune deficiency (SCID) that is characterized 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.;
ICD-11 synonym : Zeta-associated-protein 70 deficiency;
Origin ID : 1718367094;
Automatic exact mappings (from CISMeF team)
Zap-70 (zeta-chain-associated protein 70 kD) deficiency is an autosomal recessive
form of severe combined immune deficiency (SCID) that is characterized 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.
