Morgan et al. (2011) reported 2 unrelated children from consanguineous families of Pakistani origin with a primary immunodeficiency disorder. They presented at age 15 months and 6 months, respectively, with recurrent respiratory infections, otitis media, candidiasis, diarrhea, and ... Morgan et al. (2011) reported 2 unrelated children from consanguineous families of Pakistani origin with a primary immunodeficiency disorder. They presented at age 15 months and 6 months, respectively, with recurrent respiratory infections, otitis media, candidiasis, diarrhea, and failure to thrive. One child showed a clear predisposition to herpes viral infections, necessitating long-term antiviral therapy and intravenous immunoglobulin, whereas the other child had only 1 uneventful varicella event at age 6 years. Both children had additional features of immune dysregulation, including hypereosinophilia, low-titer antinuclear and other autoantibodies, vitiligo, and alopecia areata. Other features included lymphadenopathy and hepatosplenomegaly. Humoral immunity appeared normal. Both children received a bone marrow transplantation. Flow cytometric analysis showed the presence of CD3+ T cells, but these cells uniformly expressed TCR-gamma/delta, with little or no TCR-alpha/beta expression.
In 2 unrelated Pakistani patients with primary immunodeficiency, Morgan et al. (2011) identified a homozygous truncating mutation in the TRAC gene (186880.0001). Whereas control cells showed colocalization of alpha- and beta-TCR chains, patient cells showed reduced levels of ... In 2 unrelated Pakistani patients with primary immunodeficiency, Morgan et al. (2011) identified a homozygous truncating mutation in the TRAC gene (186880.0001). Whereas control cells showed colocalization of alpha- and beta-TCR chains, patient cells showed reduced levels of expression and no evidence of colocalization, suggesting that the mutant alpha chain fails to complex normally with the TCR-beta chain.