HAX-1 deficiency: Characteristics of five cases including an asymptomatic patient

Conclusion:Complete blood count should be performed and absolute neutrophil count should be evaluated in patients with recurrent severe infections. In the event neutropenia is detected, they should be investigated in terms of SCN and mutation analysis should be performed. This is important both for definite diagnosis of SCN, determination of subtype and treatment planning and also for genetic counseling.DOI 10.12932/AP0618.34.1.2016 
Source: Asian Pacific Journal of Allergy and Immunology - Category: Allergy & Immunology Source Type: research