Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation


ÇAĞDAŞ AYVAZ D. N., Ozgur T. T., Asal G. T., Revy P., De Villartay J., van der Burg M., ...More

PEDIATRIC TRANSPLANTATION, vol.16, no.5, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 5
  • Publication Date: 2012
  • Doi Number: 10.1111/j.1399-3046.2011.01491.x
  • Journal Name: PEDIATRIC TRANSPLANTATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: SCID, Cernunnos-XLF, hematopoietic stem cell transplantation, SEVERE COMBINED IMMUNODEFICIENCY, V(D)J RECOMBINATION, DNA, LYMPHOCYTE, LETHALITY, DEFECTS, BREAKS
  • Hacettepe University Affiliated: Yes

Abstract

Cagdas D, Ozgur TT, Asal GT, Revy P, De Villartay J-P, van der Burg M, Sanal O, Tezcan I. Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation. Abstract: SCID affects T and B cell differentiation and functions, presenting with severe opportunistic infections in the early postnatal period. It is fatal unless stem cell transplantation is performed. RS SCID forms are caused by defects in the NHEJ pathway, the enzymatic process required for the repair of DNA double-strand breaks. Cernunnos-XLF defect is one of the defects in this pathway. Here, we present two patients with Cernunnos-XLF defect, both having microcephaly, prominent growth retardation, and T-B-NK+SCID, one of whom had AHA. These patients received hematopoietic stem cells from HLA identical related donor without conditioning regimen and recovered without any complication. Now, both of the patients are well and alive seven and one yr after transplantation, respectively. A remarkable observation was the severe diarrhea that occurred in both patients soon after transplantation.