Severe Combined Immunodeficiency (absent T absent B cells)

Gene: PRKDC

Green List (high evidence)

2 unrelated individuals; Multiple mouse models and horse model

The first individual was homozygous for missense variant (L3062R) in the FAT-domain
Second individual was compound heterozygous for a missense and splice variant, resulting in premature termination.

Both individuals presented with infantile-onset severe combined immunodeficiency (SCID) with absent B and T cells and recurrent respiratory infections. One individual presented with neurologic abnormalities (microcephaly, brain malformations, developmental delay; he died at age 31 months with intractable seizures.)

Created: 26 Aug 2021, 5:03 a.m. | Last Modified: 26 Aug 2021, 5:03 a.m.

Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966; Absent T and B cells; normal NK cells; SCID; recurrent respiratory infections; microcephaly; seizures; developmental delay

Publications

• 19075392
• 23722905