Kostmann disease with developmental delay in three patients

Eur J Pediatr. 2010 Jun;169(6):759-62. doi: 10.1007/s00431-010-1151-5. Epub 2010 Feb 23.

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.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / deficiency*
  • Adaptor Proteins, Signal Transducing / genetics
  • Age of Onset
  • Child, Preschool
  • Consanguinity
  • Developmental Disabilities* / diagnosis
  • Developmental Disabilities* / genetics
  • Developmental Disabilities* / therapy
  • Female
  • Granulocyte Colony-Stimulating Factor / therapeutic use
  • Humans
  • Immunologic Deficiency Syndromes* / diagnosis
  • Immunologic Deficiency Syndromes* / genetics
  • Immunologic Deficiency Syndromes* / therapy
  • Infant
  • Male
  • Neutropenia / congenital*
  • Neutropenia / diagnosis
  • Neutropenia / genetics
  • Neutropenia / therapy
  • Syndrome
  • Turkey

Substances

  • Adaptor Proteins, Signal Transducing
  • HAX1 protein, human
  • Granulocyte Colony-Stimulating Factor