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Kostmann disease with developmental delay in three patients.

Abstract
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.
AuthorsCaner Aytekin, Manuela Germeshausen, Nilden Tuygun, Gonul Tanir, Figen Dogu, Aydan Ikinciogullari
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 169 Issue 6 Pg. 759-62 (Jun 2010) ISSN: 1432-1076 [Electronic] Germany
PMID20177699 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Adaptor Proteins, Signal Transducing
  • HAX1 protein, human
  • Granulocyte Colony-Stimulating Factor
Topics
  • Adaptor Proteins, Signal Transducing (deficiency, genetics)
  • Age of Onset
  • Child, Preschool
  • Consanguinity
  • Developmental Disabilities (diagnosis, genetics, therapy)
  • Female
  • Granulocyte Colony-Stimulating Factor (therapeutic use)
  • Humans
  • Immunologic Deficiency Syndromes (diagnosis, genetics, therapy)
  • Infant
  • Male
  • Neutropenia (congenital, diagnosis, genetics, therapy)
  • Syndrome
  • Turkey

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