Severe Combined Immunodeficiency (absent T absent B cells)

Gene: DCLRE1C

Green List (high evidence)

Well-established gene-disease association; over 40 unique DCLRE1C variants have been reported that result in RS-SCID; multiple mouse models

Homozygous and compound heterozygous (missense, in-frame indel, nonsense, frameshift, and large deletion) variants have been reported; with the most common being gross deletions exons 1-3.
*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin)

The majority of individuals present within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive as well as hypogammmaglobulinaemia, absent T and B lymphocytes and increased radiosensitivity.

Created: 26 Aug 2021, 4:58 a.m. | Last Modified: 26 Aug 2021, 4:58 a.m.

Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency, Athabascan type MIM# 602450; Absent/reduced T and B cells; decreased Ig levels; Normal NK cell number; increased risk of graft rejection possibly due to activated NK cells; radiation sensitivity; failure to thrive; recurrent respiratory infections; diarrhoea; fever; hypogammmaglobulinaemia

Publications

• 19953608
• 15699179
• 12055248
• 34220820