Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review

摘要: Background: Zeta-Chain Associated Protein Kinase 70 kDa (ZAP-70) deficiency is a rare combined immunodeficiency (CID) caused by recessive homozygous/compound heterozygous loss-of-function mutations in the ZAP70 gene. Patients with ZAP-70 present variety of clinical manifestations, particularly recurrent respiratory infections and cutaneous involvements. Therefore, systematic review helpful to achieve comprehensive view this disease. Methods: We searched PubMed, Web Science, Scopus databases for all reported deficient patients screened against described eligibility criteria. A total 49 were identified from 33 articles. For patients, demographic, clinical, immunologic, molecular data collected. Results: have been literature broad spectrum manifestations including (81.8%), involvement (57.9%), lymphoproliferation (32.4%), autoimmunity (19.4%), enteropathy (18.4%), increased risk malignancies (8.1%). The predominant immunologic phenotype was low CD8+ T cell counts (97.9%). Immunologic profiling showed defective antibody production (57%) decreased lymphocyte responses mitogenic stimuli such as phytohemagglutinin (PHA) (95%). Mutations gene located throughout gene, there no mutational hotspot. However, most kinase domain. Hematopoietic stem transplantation (HSCT) applied major curative treatment 25 (51%) 18 survived transplantation, while two died three required second transplant order full remission. Conclusion: Newborns consanguineous parents, positive family history CID, should be considered screening, since early diagnosis HSCT can lead more favorable outcome. Based on current evidence, genotype-phenotype correlation patients.