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"given": "Vivien", "initials": "V", "orcid": "0000-0002-4020-824X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9eccfef230a0494d87395d92b9618fb5.json"}}], "type": "journal article", "published": "2024-03-00", "journal": {"title": "Science (New York, N.Y.)", "issn": "1095-9203", "volume": "383", "issue": "6686", "pages": "eadh4059", "issn-l": "0036-8075"}, "abstract": "We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre-\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 PTCRA 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.", "doi": "10.1126/science.adh4059", "pmid": "38422122", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1972302"}, {"db": "pmc", "key": "PMC10958617"}], "notes": [], "created": "2026-08-20T11:59:36.719Z", "modified": "2026-08-20T11:59:39.340Z"}]}