biostudies-literatureUnknown11(1)Sanchez AIThe 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 <i>MAPK1</i> gene of the patient, which adds 1 alanine to the polyalanine amino-terminal tract oMolecular syndromology15-23https://www.ebi.ac.uk/biostudies/studies/S-EPMC7109426biostudies-literatureImmunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the <i>MAPK1</i> Gene.PMC7109426Ortega RIRodriguez LSPrieto JCSanchez AIParra MFranco MParedes AAngel JHerrera DPrieto KQuero RRojas JAGarcia-Acero MAfalseImmunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the <i>MAPK1</i> Gene.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 <i>MAPK1</i> gene of the patient, which adds 1 alanine to the polyalanine amino-terminal tract o2020-01-01T00:00:00Z2020 Feb2025-04-03T22:25:46.938Z2021-02-21T05:13:12ZS-EPMC71094263225629710.1159/000506032