Kostmann disease with developmental delay in three patients

Aytekin C., Germeshausen M., Tuygun N., Tanir G., DOĞU E. F., İKİNCİOĞULLARI K. A.

EUROPEAN JOURNAL OF PEDIATRICS, cilt.169, sa.6, ss.759-762, 2010 (SCI-Expanded) identifier identifier identifier

  • 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.