Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis
- 98 Downloads
To the Editor,
IKBKB deficiency is a rare combined immune deficiency found in the Northern Cree, where T cells develop, but are non-functional . Although IKBKB deficiency is not technically a form of severe combined immune deficiency (SCID), these patients present with severe, early onset infections, clinically similar to patients with classic SCID, and respond to therapy with hematopoietic stem cell transplantation. IKBKB deficiency has been genetically confirmed or highly suspected in 16 Northern Cree individuals, who share a homozygous mutation (c.1292dupG), and originate from several remote communities in Manitoba and Saskatchewan (manuscript in submission).
Newborn screening by quantitative analysis of T cell receptor excision circles (TRECs) has become the accepted assay to facilitate early diagnosis of most forms of SCID, since most affected newborns will not make TRECs. However, not all genetic forms of severe immune deficiencies are identified by TREC analysis. This...
Compliance with Ethical Standards
University of Manitoba Research Ethics Board approval was obtained
Conflict of Interest
The authors declare that they have no conflict of interest.