Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

Eight-color immunophenotyping of T-, B-, and NK-cell subpopulations for characterization of chronic immunodeficiencies

“…However, low numbers of CD8 cells may also be caused by inborn genetic defects. It was previously shown that combined immunodeficiencies that defects in the CD3 chains, CD8a chain or the IMMUNODEFICIENCY SCREENING SYSTEM 203 ZAP-70-kinase can result in low CD8-T cell production (43)(44)(45). Similar to the above, a combined investigation of CD8 RTEs in panel (vi) would, therefore, be recommended.…”

Characterization of ζ-associated protein, 70 kd (ZAP70)–deficient human lymphocytes

“…However, recently, Ommen syndrome has been reported in a ZAP70-deficient patient (with no ZAP70 protein expression), with skin-infiltrating CD4 1 T cells of a memory phenotype present. 43 Skin infiltration has also been observed in other patients with ZAP70 deficiency. 44 Moreover, ulcerative colitis and thrombocytopenia have been reported in a 3-year-old with ZAP70 deficiency, 45 indicating that autoimmunity can develop in these patients with time.…”

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations

“…Such profound CD8 1 T-cell lymphocytopenia was reminiscent of patients with zeta-associated protein of 70 kDa (ZAP-70) deficiency, who may also have extensive erythematous rash. 29,30 It is not immediately clear why patients with RMRP mutations may have CD8 1 T-cell lymphocytopenia. In yeast, mutations in RMRP lead to a prolonged and abnormal arrest in cell division as the result of an exit from mitosis defect caused by failure in degradation of cyclin B mRNA.…”