Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation

J Allergy Clin Immunol. 2016 Aug;138(2):628-630.e2. doi: 10.1016/j.jaci.2016.03.016. Epub 2016 Apr 6.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Intramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Deaminase / deficiency*
  • Adenosine Deaminase / genetics
  • Adolescent
  • Adult
  • Agammaglobulinemia / diagnosis*
  • Agammaglobulinemia / genetics
  • Agammaglobulinemia / therapy*
  • Child
  • Child, Preschool
  • Codon, Nonsense
  • Diagnostic Errors
  • Exome Sequencing
  • Female
  • GATA2 Transcription Factor / deficiency*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Intercellular Signaling Peptides and Proteins / deficiency*
  • Intercellular Signaling Peptides and Proteins / genetics
  • Male
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / therapy*
  • Transplantation, Haploidentical
  • Young Adult

Substances

  • Codon, Nonsense
  • GATA2 Transcription Factor
  • GATA2 protein, human
  • Intercellular Signaling Peptides and Proteins
  • ADA2 protein, human
  • Adenosine Deaminase

Supplementary concepts

  • Severe combined immunodeficiency due to adenosine deaminase deficiency