Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency

J Allergy Clin Immunol. 2010 Dec;126(6):1304-5.e3. doi: 10.1016/j.jaci.2010.07.034.

Abstract

A child with homozygous partial deletion of the DOCK8 gene showed characteristic clinical findings of autosomal recessive hyper-IgE syndrome and full donor chimerism early after matched sibling bone marrow transplantation.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow / pathology
  • Cell Count
  • Child
  • Chimerism
  • Female
  • Guanine Nucleotide Exchange Factors / deficiency*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Job Syndrome / genetics
  • Job Syndrome / immunology*
  • Job Syndrome / physiopathology
  • Job Syndrome / therapy
  • Lymphopenia
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism*
  • T-Lymphocytes / pathology
  • Transplantation Conditioning
  • Transplantation Tolerance / immunology*
  • Transplantation, Homologous

Substances

  • DOCK8 protein, human
  • Guanine Nucleotide Exchange Factors
  • Immunosuppressive Agents