Introduction Ataxia telangiectasia (A-T) is a rare genetic form of early-onset autosomal […]
Genetic over clinical diagnosis? Ataxia telangiectasia with heterozygous mutation Read More »
Introduction: Menke-Hennekam Syndrome is a novel and rare type of congenital generalized
Menke-Hennekam Syndrome affecting an 8-year-old female child: Case Report Read More »
Introduction: Hyper-IgM syndrome is an inborn error of immunity that predisposes to
Introduction: Inborn errors of immunity due to alterations in the gamma interferon
Gamma interferon in patients with inborn errors of immunity Read More »
