Kostmann disease with developmental delay in three patients
EUROPEAN JOURNAL OF PEDIATRICS, cilt.169, sa.6, ss.759-762, 2010 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 169 Sayı: 6
- Basım Tarihi: 2010
- Doi Numarası: 10.1007/s00431-010-1151-5
- Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.759-762
- Anahtar Kelimeler: Developmental delay, HAX1, Infection, Kostmann disease, Severe congenital neutropenia, SEVERE CONGENITAL NEUTROPENIA, CSF3R MUTATIONS, HAX1 MUTATIONS
- Ankara Üniversitesi Adresli: Evet
Özet
Kostmann disease is a rare autosomal recessive form of severe congenital neutropenia characterized by maturation arrest at the stage of promyelocytes/myelocytes in bone marrow with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/L and severe recurrent bacterial infections from early infancy. Kostmann disease is caused by homozygous mutations in the gene encoding the mitochondrial protein HCLS1-associated X1. Here, we report three patients with Kostmann disease who, besides recurrent infections, have developmental delay.