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| Hauptseite > Publikationsdatenbank > Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients > print |
| Hauptseite > Publikationsdatenbank > Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients > print |
| 001 | 1014969 | ||
| 005 | 20240311125732.0 | ||
| 024 | 7 | _ | |a 10.1016/j.clim.2023.109757 |2 doi |
| 024 | 7 | _ | |a 1521-6616 |2 ISSN |
| 024 | 7 | _ | |a 1521-7035 |2 ISSN |
| 024 | 7 | _ | |a 10.34734/FZJ-2023-03513 |2 datacite_doi |
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| 037 | _ | _ | |a FZJ-2023-03513 |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Yakici, Nalan |0 P:(DE-HGF)0 |b 0 |
| 245 | _ | _ | |a Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients |
| 260 | _ | _ | |a Orlando, Fla. |c 2023 |b Academic Press |
| 336 | 7 | _ | |a article |2 DRIVER |
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| 520 | _ | _ | |a 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 was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment. |
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