{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T01:55:32Z","timestamp":1746755732906,"version":"3.40.4"},"reference-count":28,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>The genetic basis for sporadic immunodeficiency in patients with 22q11.2 distal deletion syndrome is unknown.&lt;b&gt; &lt;\/b&gt;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&lt;sup&gt;+&lt;\/sup&gt; T cells, but increased frequencies of central, effector, and terminally differentiated memory T cells. Antigen-specific CD4&lt;sup&gt;+&lt;\/sup&gt; and CD8&lt;sup&gt;+&lt;\/sup&gt; 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 &lt;i&gt;MAPK1&lt;\/i&gt; gene of the patient, which adds 1 alanine to the polyalanine amino-terminal tract of the protein (p.Ala7dup). The mother, unlike the father, was heterozygote for the variant. Western blot analysis with the patient's activated PBMCs showed a 91% reduction in the MAPK1 protein. Further studies will be necessary to determine whether or not the variant present in the remaining &lt;i&gt;MAPK1 &lt;\/i&gt;gene of the patient is pathogenic.<\/jats:p>","DOI":"10.1159\/000506032","type":"journal-article","created":{"date-parts":[[2020,2,4]],"date-time":"2020-02-04T22:00:31Z","timestamp":1580853631000},"page":"15-23","source":"Crossref","is-referenced-by-count":4,"title":["Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the &lt;b&gt;&lt;i&gt;MAPK1&lt;\/i&gt;&lt;\/b&gt; Gene"],"prefix":"10.1159","volume":"11","author":[{"given":"Ana I.","family":"S\u00e1nchez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary 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