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001014969 0247_ $$2doi$$a10.1016/j.clim.2023.109757
001014969 0247_ $$2ISSN$$a1521-6616
001014969 0247_ $$2ISSN$$a1521-7035
001014969 0247_ $$2datacite_doi$$a10.34734/FZJ-2023-03513
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001014969 1001_ $$0P:(DE-HGF)0$$aYakici, Nalan$$b0
001014969 245__ $$aExpanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
001014969 260__ $$aOrlando, Fla.$$bAcademic Press$$c2023
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001014969 520__ $$aPaired 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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001014969 7001_ $$0P:(DE-HGF)0$$aKreins, Alexandra Y.$$b1
001014969 7001_ $$0P:(DE-HGF)0$$aCatak, Mehmet Cihangir$$b2
001014969 7001_ $$0P:(DE-HGF)0$$aBabayeva, Royala$$b3
001014969 7001_ $$0P:(DE-HGF)0$$aErman, Baran$$b4
001014969 7001_ $$0P:(DE-HGF)0$$aKenney, Heather$$b5
001014969 7001_ $$0P:(DE-HGF)0$$aGungor, Hatice Eke$$b6
001014969 7001_ $$0P:(DE-HGF)0$$aCea, Pablo A.$$b7
001014969 7001_ $$0P:(DE-HGF)0$$aKawai, Tomoki$$b8
001014969 7001_ $$0P:(DE-HGF)0$$aBosticardo, Marita$$b9
001014969 7001_ $$0P:(DE-HGF)0$$aDelmonte, Ottavia Maria$$b10
001014969 7001_ $$0P:(DE-HGF)0$$aAdams, Stuart$$b11
001014969 7001_ $$0P:(DE-HGF)0$$aFan, Yu-Tong$$b12
001014969 7001_ $$0P:(DE-HGF)0$$aPala, Francesca$$b13
001014969 7001_ $$0P:(DE-HGF)0$$aTurkyilmaz, Ayberk$$b14
001014969 7001_ $$0P:(DE-HGF)0$$aHowley, Evey$$b15
001014969 7001_ $$0P:(DE-HGF)0$$aWorth, Austen$$b16
001014969 7001_ $$0P:(DE-HGF)0$$aKot, Hakan$$b17
001014969 7001_ $$0P:(DE-HGF)0$$aSefer, Asena Pinar$$b18
001014969 7001_ $$0P:(DE-HGF)0$$aKara, Altan$$b19
001014969 7001_ $$0P:(DE-HGF)0$$aBulutoglu, Alper$$b20
001014969 7001_ $$0P:(DE-HGF)0$$aEltan, Sevgi Bilgic$$b21
001014969 7001_ $$0P:(DE-HGF)0$$aAltunbas, Melek Yorgun$$b22
001014969 7001_ $$0P:(DE-HGF)0$$aBayram, Feyza$$b23
001014969 7001_ $$0P:(DE-HGF)0$$aKarakus, Ibrahim Serhat$$b24
001014969 7001_ $$0P:(DE-HGF)0$$aKaratay, Emrah$$b25
001014969 7001_ $$0P:(DE-HGF)0$$aTekeoglu, Sidem Didar$$b26
001014969 7001_ $$0P:(DE-HGF)0$$aEser, Metin$$b27
001014969 7001_ $$0P:(DE-HGF)0$$aAlbayrak, Davut$$b28
001014969 7001_ $$0P:(DE-HGF)0$$aCitli, Senol$$b29
001014969 7001_ $$0P:(DE-HGF)0$$aKiykim, Ayca$$b30
001014969 7001_ $$0P:(DE-HGF)0$$aKarakoc-Aydiner, Elif$$b31
001014969 7001_ $$0P:(DE-HGF)0$$aOzen, Ahmet$$b32
001014969 7001_ $$0P:(DE-HGF)0$$aGhosh, Sujal$$b33
001014969 7001_ $$0P:(DE-Juel1)172663$$aGohlke, Holger$$b34$$ufzj
001014969 7001_ $$0P:(DE-HGF)0$$aOrhan, Fazil$$b35
001014969 7001_ $$0P:(DE-HGF)0$$aNotarangelo, Luigi D.$$b36
001014969 7001_ $$0P:(DE-HGF)0$$aDavies, E. Graham$$b37
001014969 7001_ $$0P:(DE-HGF)0$$aBaris, Safa$$b38$$eCorresponding author
001014969 773__ $$0PERI:(DE-600)1462862-4$$a10.1016/j.clim.2023.109757$$gp. 109757 -$$p109757$$tClinical immunology$$v255$$x1521-6616$$y2023
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