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.
"Infections can occur in any organ, especially in mucocutaneous, respiratory and gastrointestinal systems[2, 3, 4]. Although recurrent infections are the most common manifestations of the disease, neurological disorders are recently reported in some SCN patients, who had specific homologous mutations within antiapoptotic HCLS1-associated protein X1 (HAX1) gene[8, 9, 10]. "
[Show abstract][Hide abstract] ABSTRACT: G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, early onset infections and additional organ involvement, especially cardiac and urogenital malformations.
In this report, we present the clinical details of a recently known case of severe congenital neutropenia (SCN) with G6PC3 mutation, who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/µl was detected during work-up of sepsis in the first month of life. SCN was diagnosed and granulocyte colony-stimulating factor (GCSF) administration initiated. Bone marrow examination revealed maturation arrest in myeloid series at promyelocyte-myelocyte stage. Diarrhea, bronchiolitis, and urinary tract infection were other infectious complications, while hydronephrosis, atrial septal defect, and patent ductus arteriosus were other manifestations.
Prompt and accurate diagnosis of neutropenic patients and appropriate treatment can prevent further complications and improve the quality of life of the affected patients.
Iranian Journal of Pediatrics 06/2010; 20(2):225-8. · 0.52 Impact Factor
"Study in the field of congenital neutropenia is a good example: While descriptive studies on SCN in Iran provided an update on status of disease in the country[52, 132], identification of mutations in the HAX1 gene that lead to autosomal recessive form of severe congenital neutropenia and discovering a new syndrome with congenital neutropenia associated with cardiac and urogenital malformations due to mutations in the G6PC3 gene were the key publications that highlights this issue. Although mutations in the ELA2 gene can also lead to SCN, frequency of HAX1 deficiency in our region seems to be more common than previously expected, due to high rate of consanguineous marriages. Some complications in the patients with HAX1 deficiency were further described such as fungal infections, and neurodevelopmental delay and convulsions. "
[Show abstract][Hide abstract] ABSTRACT: Pediatric immunology came into sight in the second half of 20(th) century, when pediatricians and basic immunologists began to give attention to diagnosis and treatment of children with primary immunodeficiency diseases (PIDs). Understanding the genetic and mechanistic basis of PIDs provides unique insight into the functioning of the immune system. By progress in basic and clinical immunology, many infrastructural organizations and academic centers have been established in many countries worldwide to focus on training and research on the immune system and related disorders. Along with progress in basic and clinical immunology in the world, pediatric immunology had a good progress in Iran during the last 33-year period. Now, patients with PIDs can benefit from multidisciplinary comprehensive care, which is provided by clinical immunologists in collaboration with other specialists. Patients with history of recurrent and/or chronic infections suggestive of PIDs are evaluated by standard and research-based testing and receive appropriate treatment. The progress in PIDs can be described in three periods. Development of training program for clinical fellowship in allergy and immunology, multidisciplinary and international collaborative projects, primary immunodeficiency diseases textbooks, meetings on immunodeficiency disorders, improvement in diagnosis and treatment, and construction of Iranian primary immunodeficiency association, Students' research group for immunodeficiencies, Iranian primary immunodeficiency registry, and the immunological societies and centers were the main activities on PIDs during these years. In this article, we review the growth of modern pediatric immunology and PIDs status in Iran.
Iranian Journal of Pediatrics 03/2010; 20(1):16-34. · 0.52 Impact Factor
[Show abstract][Hide abstract] 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.
The Turkish journal of pediatrics 52(1):81-4. · 0.43 Impact Factor
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