he phenotype-genotype relationship in severe congenital neutropenia patients

Aim: Severe congenital neutropenia is a rare hereditary disease presenting with infections such as sepsis, abscess, omphalitis and gingivitis in early life. We evaluated the association between clinical findings and mutations in our patients with severe congenital neutropenia.Material and Method: The clinical and laboratory findings of six patients with severe congenital neutropenia were obtained and the diagnosis was confirmed by mutation analysis in all family members (parents and children). Results: The most common clinical presentation included formation of abscess and presence of otitis and gingivitis. The mutation analysis by DNA sequencing revealed HAX-1 mutation in four and G6PC3 mutation in two patients. Prominent superficial veins, inverted nipple and triangular face were observed in patients with G6PC3 mutation. In addition, developmental delay, convulsion, inability to speak and learning difficulties were observed in two patients with HAX1 mutation. Conclusions: In patients with severe, recurrent infections, assessment of neutrophil count and consideration of various presentations of severe congenital neutropenia are critical for establishing early diagnosis and for successful treatment of the disease. Additionally, genetic counseling and mutation analysis should be offered to these patients. (Turk Arch Ped 2012; 47: 272-7)