title: The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia.
abstract: Severe congenital neutropenia (SCN) is a rareE primary immunodeficiency disorder characterized by early onset recurrent infections in association with persistent severe agranulocytosis. To identify the clinical, immunohematological, and molecular characteristics of patients with SCN, 18 Iranian patients with the mean age of 8.8 +/- 5.8 years were investigated in this study. All of these patients experienced severe neutropenia; the mean of absolute neutrophil count was 281.4 +/- 137.7 cells/mm3. Bone marrow findings were typified by a myeloid maturation arrest at the promyelocyte-myelocyte stage in these patients. Molecular analysis revealed different mutations in the ELA-2 gene of one patient and in the HAX-1 gene of another three patients. The most common presenting complaints in these patients were superficial abscesses, oral ulcers, cutaneous infections, omphalitis, and pneumonia. During the course of illness, all patients developed mucocutaneous manifestations, and 16 cases had respiratory infections. The most commonly manifestations were abscesses, oral ulcers, pneumonia, periodontitis, otitis media, cutaneous infections, mucocutaneous candidiasis, and acute diarrhea. Three patients died because of a severe infection. Although SCN is a rare disorder, early onset of severe and recurrent infections should always raise a suspicion, which deserves further evaluation for detecting such disorder.
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Department of Allergy and Clinical Immunology of Children Medical Center, Medical Sciences/University of Tehran, Tehran 14194, Iran. rezaei_nima@hbi.ir
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moin
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
authors.forename: Asghar
authors.initials: A
authors.lastname: Ramyar
authors.forename: Mina
authors.initials: M
authors.lastname: Izadyar
authors.forename: Zahra
authors.initials: Z
authors.lastname: Chavoshzadeh
authors.forename: Roya
authors.initials: R
authors.lastname: Sherkat
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.forename: Mehdi
authors.initials: M
authors.lastname: Yeganeh
authors.forename: Maryam
authors.initials: M
authors.lastname: Mahmoudi
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Mahjoub
authors.forename: Manuela
authors.initials: M
authors.lastname: Germeshausen
authors.forename: Magda
authors.initials: M
authors.lastname: Grudzien
authors.forename: Marshall S
authors.initials: MS
authors.lastname: Horwitz
authors.forename: Christoph
authors.initials: C
authors.lastname: Klein
authors.forename: Abolhassan
authors.initials: A
authors.lastname: Farhoudi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005260:Female; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood / Q000235:genetics; D007074:Immunoglobulin G / Q000097:blood / Q000235:genetics; D007075:Immunoglobulin M / Q000097:blood / Q000235:genetics; D007223:Infant; D007492:Iran; D007958:Leukocyte Count; D008297:Male; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics / Q000276:immunology* / Q000401:mortality; D010375:Pedigree; D018805:Sepsis / Q000401:mortality
chemical_list: D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M