Article
HAX-1 deficiency: Characteristics of five cases including an asymptomatic patient.
Asian Pacific journal of allergy and immunology - 1 Mar 2016
Aydogmus Cigdem, Cipe Funda, Tas Melda, Akinel Aysenur, Öner Özlem, Keskindemirci Gonca, Bornaun Helen, Kutluk Günsel, Hocaoglu Arzu Babayigit
Abstract excerpt
BACKGROUND: Mutations in the HAX-1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN), which particularly manifests with recurrent skin, lung and deep tissue infections from the first few months of life. OBJECTIVE: We retrospectively evaluated the clinical and laboratory findings of the patients diagnosed with SCN carrying HAX1 gene mutations. METHODS: A total of five patients with SCN,...
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