Severe congenital neutropenia: case report
نویسنده
چکیده
Introduction Neutropenia is defined in the literature as absolute neutrophil counts in peripheral blood of less than 1500 cells/mm3 in more than one year old and less than 2000cells/mm3 in children in the first year old of life. Neutropenia is classified as mild, moderate or severe, and may be congenital or acquired, persistent or not. Kostmann syndrome is a severe neutropenia, the incidence varies1-2 cases/ 100.000 – 1.000.000 and attends with severe recurrent infections early.
منابع مشابه
Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report
BACKGROUND Severe congenital neutropenia (SCN) is an immunodeficiency disease characterized low blood neutrophil counts, early bacterial infections, and risk of leukaemia development. Heterozygous mutations in the ELANE gene coding neutrophil elastase are associated with SCN. Patients with SCN suffer from recurrent bacterial infections and often succumb them. To our knowledge, this is the first...
متن کاملSevere congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations
Severe Congenital Neutropenia type 4 (SCN4, OMIM 612541) is a rare autosomal recessive disease due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and other anomalies including congenital heart defects, prominent superficial veins, uro-genital anomalies, facial dysmorphism, growth and developmental delay and intermittent thrombocytopenia. In some patient...
متن کاملCardiac and Renal Malformations in a Patient with Sepsis and Severe Congenital Neutropenia
BACKGROUND 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. CASE PRESENTATION In this report, we present the clinical details of a recently known case of severe congenital neutropenia (SCN) with G6PC3 mutation, who experienced the fi...
متن کاملSevere congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency.
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency disease that is characterized by persistent severe neutropenia and severe early-onset bacterial infections. We report the case of 2 siblings with SCN who were the children of consanguineous parents. The HAX1 mutation was identified in both siblings. Both patients suffered from oral ulcers, candidiasis, respiratory tract infe...
متن کامل