The Clinical, Immunohematological, and Molecular Study of Iranian Patients with Severe Congenital Neutropenia

被引:0
作者
Nima Rezaei
Mostafa Moin
Zahra Pourpak
Asghar Ramyar
Mina Izadyar
Zahra Chavoshzadeh
Roya Sherkat
Asghar Aghamohammadi
Mehdi Yeganeh
Maryam Mahmoudi
Fatemeh Mahjoub
Manuela Germeshausen
Magda Grudzien
Marshall S. Horwitz
Christoph Klein
Abolhassan Farhoudi
机构
[1] Medical Sciences/University of Tehran,Immunology, Asthma and Allergy Research Institute, Department of Allergy and Clinical Immunology of Children Medical Center
[2] Medical Sciences/University of Tehran,Department of Hematology and Oncology of Children Medical Center
[3] Beheshti University of Medical Sciences,Mofid Pediatric Hospital
[4] Isfahan University of Medical Sciences,Alzahra Hospital
[5] Medical Sciences/University of Tehran,Department of Pathology of Children Medical Center
[6] Hannover Medical School,Department of Pediatric Hematology and Oncology
[7] Freiburg University Hospital,Division of Rheumatology and Clinical Immunology, Medical Center
[8] University of Washington,Division of Medical Genetics, Department of Medicine
来源
Journal of Clinical Immunology | 2007年 / 27卷
关键词
Neutropenia; immunologic deficiency syndromes; infection; Iran;
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学科分类号
摘要
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.
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页码:525 / 533
页数:8
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