Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.

doi:10.1016/j.clim.2023.109757

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Article

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.

Clinical immunology (Orlando, Fla.) - 1 Oct 2023

Yakici Nalan, Kreins Alexandra Y, Catak Mehmet Cihangir, Babayeva Royala, Erman Baran, Kenney Heather, Gungor Hatice Eke, Cea Pablo A, Kawai Tomoki, Bosticardo Marita, Delmonte Ottavia Maria, Adams Stuart, Fan Yu-Tong, Pala Francesca, Turkyilmaz Ayberk, Howley Evey, Worth Austen, Kot Hakan, Sefer Asena Pinar, Kara Altan, Bulutoglu Alper, Bilgic-Eltan Sevgi, Altunbas Melek Yorgun, Bayram Catak Feyza, Karakus Ibrahim Serhat, Karatay Emrah, Tekeoglu Sidem Didar, Eser Metin, Albayrak Davut, Citli Senol, Kiykim Ayca, Karakoc-Aydiner Elif, Ozen Ahmet, Ghosh Sujal, Gohlke Holger, Orhan Fazil, Notarangelo Luigi D, Davies E Graham, Baris Safa

Abstract excerpt

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment...

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Identifiers

PMID: 37689091
DOI: 10.1016/j.clim.2023.109757
PMCID: PMC10958138

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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