Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the MAPK1 Gene.

ABSTRACT: The genetic basis for sporadic immunodeficiency in patients with 22q11.2 distal deletion syndrome is unknown. We report an adult with a type 1 (D-F) 22q11.2 distal deletion syndrome and recurrent severe infections due to herpes zoster virus, presenting mild T cell lymphopenia and diminished frequency of naive CD4⁺ T cells, but increased frequencies of central, effector, and terminally differentiated memory T cells. Antigen-specific CD4⁺ and CD8⁺ T cells to influenza, rotavirus, and SEB were conserved in the patient, but responses to tetanus toxoid were temporarily undetectable. Exomic sequencing identified the c.20_22dupCGG (NM_002745.4) variant in the remaining MAPK1 gene of the patient, which adds 1 alanine to the polyalanine amino-terminal tract o

SUBMITTER: Sanchez AI 

PROVIDER: S-EPMC7109426 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature