Combined Immunodeficiency

Gene: AK2

Green List (high evidence)

PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF.

Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Sources: Literature

Created: 15 Jul 2021, 1:21 a.m. | Last Modified: 15 Jul 2021, 1:22 a.m.

Panel Version: 0.197

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropenia; leukopenia; lymphopenia; agranulocytosis; deafness

Publications

• 19043417
• 19043416