Condition: IMMUNODEFICIENCY 58
rs1567626023 in
CARMIL2 gene and
IMMUNODEFICIENCY 58
PMID 29479355 2018 Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.
PMID 27647349 2016 Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
PMID 27896283 2016 A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.