{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T08:54:08Z","timestamp":1793436848660,"version":"4.5.0"},"reference-count":86,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6686","content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Science"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:p>\n            We describe humans with rare biallelic loss-of-function\n            <jats:italic>PTCRA<\/jats:italic>\n            variants impairing pre\u2013\u03b1 T cell receptor (pre-TCR\u03b1) expression. Low circulating naive \u03b1\u03b2 T cell counts at birth persisted over time, with normal memory \u03b1\u03b2 and high \u03b3\u03b4 T cell counts. Their TCR\u03b1 repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue \u03b1\u03b2 T cell development. Only a minority of these individuals were sick, with infection, lymphoproliferation, and\/or autoimmunity. We also report that 1 in 4000 individuals from the Middle East and South Asia are homozygous for a common hypomorphic\n            <jats:italic>PTCRA<\/jats:italic>\n            variant. They had normal circulating naive \u03b1\u03b2 T cell counts but high \u03b3\u03b4 T cell counts. Although residual pre-TCR\u03b1 expression drove the differentiation of more \u03b1\u03b2 T cells, autoimmune conditions were more frequent in these patients compared with the general population.\n          <\/jats:p>","DOI":"10.1126\/science.adh4059","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T19:01:18Z","timestamp":1709233278000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":38,"title":["The immunopathological landscape of human pre-TCR\u03b1 deficiency: From rare to common variants"],"prefix":"10.1126","volume":"383","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2145-5285","authenticated-orcid":true,"given":"Marie","family":"Materna","sequence":"first","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France."},{"name":"Imagine Institute, University of Paris-Cit\u00e9, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4772-0799","authenticated-orcid":true,"given":"Ottavia M.","family":"Delmonte","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1771-4523","authenticated-orcid":true,"given":"Marita","family":"Bosticardo","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5340-2762","authenticated-orcid":true,"given":"Mana","family":"Momenilandi","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France."},{"name":"Imagine Institute, University of Paris-Cit\u00e9, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7766-9878","authenticated-orcid":true,"given":"Peyton E.","family":"Conrey","sequence":"additional","affiliation":[{"name":"Division of Allergy Immunology, Department of Pediatrics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Charmeteau-De Muylder","sequence":"additional","affiliation":[{"name":"University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clotilde","family":"Bravetti","sequence":"additional","affiliation":[{"name":"Department of Biological Hematology, H\u00f4pital 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