{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(1)"],"submitter":["Sanchez AI"],"pubmed_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<sup>+</sup> T cells, but increased frequencies of central, effector, and terminally differentiated memory T cells. Antigen-specific CD4<sup>+</sup> and CD8<sup>+</sup> 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 o"],"journal":["Molecular syndromology"],"pagination":["15-23"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7109426"],"repository":["biostudies-literature"],"pubmed_title":["Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the <i>MAPK1</i> Gene."],"pmcid":["PMC7109426"],"pubmed_authors":["Ortega RI","Rodriguez LS","Prieto JC","Sanchez AI","Parra M","Franco M","Paredes A","Angel J","Herrera D","Prieto K","Quero R","Rojas JA","Garcia-Acero MA"],"additional_accession":[]},"is_claimable":false,"name":"Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the <i>MAPK1</i> Gene.","description":"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<sup>+</sup> T cells, but increased frequencies of central, effector, and terminally differentiated memory T cells. Antigen-specific CD4<sup>+</sup> and CD8<sup>+</sup> 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 o","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Feb","modification":"2025-04-03T22:25:46.938Z","creation":"2021-02-21T05:13:12Z"},"accession":"S-EPMC7109426","cross_references":{"pubmed":["32256297"],"doi":["10.1159/000506032"]}}