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HAX-1 deficiency: Characteristics of five cases including an asymptomatic patient
2015
Asian Pacific Journal of Allergy and Immunology
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, carrying a HAX1 gene mutation, were evaluated in terms of clinical and laboratory findings.
doi:10.12932/ap0618.34.1.2016
pmid:26994629
fatcat:7yfydbhkezbpfew2iymq5oqka4