title: HAX1 mutation in an infant with severe congenital neutropenia.
abstract: Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by persistent severe neutropenia and early-onset bacterial infections. Herein, we describe an 11-month-old male who was referred with recurrent cutaneous infections and chronic diarrhea. Serial complete blood counts indicated persistent neutropenia. Bone marrow aspiration of the patient demonstrated maturation arrest of myeloid series at promyelocyte-myelocyte stages. W44X mutation in the HAX1 gene confirmed the diagnosis of SCN. The patient was successfully treated with granulocyte colony-stimulating factor. Severe congenital neutropenia should be considered in children with early-onset recurrent infections and neutropenia, since early diagnosis and appropriate treatment can prevent further complications.
authors.affiliation: Department of Pediatric Hematology-Oncology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Aziz
authors.initials: A
authors.lastname: Eghbali
authors.forename: Peyman
authors.initials: P
authors.lastname: Eshghi
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Malek
authors.forename: Hengameh
authors.initials: H
authors.lastname: Abdollahpour
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D003967:Diarrhea / Q000209:etiology; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008297:Male; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012008:Recurrence; D017192:Skin Diseases, Bacterial / Q000209:etiology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human; D011506:Proteins; D016179:Granulocyte Colony-Stimulating Factor