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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
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tag="700" ind1=" " ind2=" "> <subfield code="a">Cea, Pablo A.</subfield> <subfield code="u">Heinrich Heine Univ, Inst Pharmaceut & Med Chem, Dusseldorf, Germany</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Kawai, Tomoki</subfield> <subfield code="u">Shizuoka Childrens Hosp, Dept Allergy & Clin Immunol, Shizuoka, Japan</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Bosticardo, Marita</subfield> <subfield code="u">Natl Inst Allergy & Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol & Microbiol LCIM, NIH, Bethesda, MD USA</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Delmonte, Ottavia Maria</subfield> <subfield code="u">Natl Inst Allergy & Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol & Microbiol LCIM, NIH, Bethesda, MD USA</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Adams, Stuart</subfield> <subfield code="u">Great Ormond St Hosp Children NHS Fdn Trust, SIHMDS Haematol, London, England</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Fan, Yu-Tong</subfield> <subfield code="u">UCL, Great Ormond St Inst Child Hlth, Infect Immun & Inflammat Res & Teaching Dept, London, England</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Pala, Francesca</subfield> <subfield code="u">Natl Inst Allergy & Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol & Microbiol LCIM, NIH, Bethesda, MD USA</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Turkyilmaz, Ayberk</subfield> <subfield code="u">Karadeniz Tech Univ, Fac Med, Dept Med Genet, Trabzon, Turkiye</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Howley, Evey</subfield> <subfield code="u">Great Ormond St Hosp Children NHS Fdn Trust, Dept Immunol & Gene therapy, London, England</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Worth, Austen</subfield> <subfield code="u">Great Ormond St Hosp Children NHS Fdn Trust, Dept Immunol & Gene therapy, London, England</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Kot, Hakan</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Sefer, Asena Pinar</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Kara, Altan</subfield> <subfield code="u">Gene Engn & Biotechnol Inst, TUBITAK Marmara Res Ctr, Gebze, Turkiye</subfield> </datafield> <datafield tag="909" ind1="C" ind2="4"> <subfield code="c">14</subfield> <subfield code="p">CLINICAL IMMUNOLOGY</subfield> <subfield code="v">255</subfield> </datafield> <datafield tag="980" ind1=" " ind2=" "> <subfield code="a">user-tubitak-adresli-yayinlar</subfield> </datafield> <datafield tag="980" ind1=" " ind2=" "> <subfield 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code="p">user-tubitak-adresli-yayinlar</subfield> </datafield> <datafield tag="650" ind1="1" ind2="7"> <subfield code="2">opendefinition.org</subfield> <subfield code="a">cc-by</subfield> </datafield> <datafield tag="260" ind1=" " ind2=" "> <subfield code="c">2023-01-01</subfield> </datafield> <datafield tag="856" ind1="4" ind2=" "> <subfield code="u">https://aperta.ulakbim.gov.trrecord/265012/files/bib-40bf3243-8929-4d2d-89d1-527ce58ba1fd.txt</subfield> <subfield code="z">md5:300ac32801b62636f42b9cfdb05c975e</subfield> <subfield code="s">375</subfield> </datafield> <datafield tag="542" ind1=" " ind2=" "> <subfield code="l">open</subfield> </datafield> <controlfield tag="005">20240607111802.0</controlfield> <controlfield tag="001">265012</controlfield> <datafield tag="980" ind1=" " ind2=" "> <subfield code="a">publication</subfield> <subfield code="b">article</subfield> </datafield> <datafield tag="520" ind1=" " ind2=" "> <subfield code="a"><p>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 naive 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.</p></subfield> </datafield> </record>
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