Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients-Reference-Cited by-同舟云学术

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

Published:2023-10 Issue: Volume:255 Page:109757
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

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

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference42 articles.

1. Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome;Estefania;Ann. Hum. Genet.,2006

2. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome;Pohl;Hum. Genet.,2013

3. A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency;Paganini;Clin. Genet.,2017

4. Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene;Patil;Am. J. Med. Genet. A,2018

5. PAX1 is essential for development and function of the human thymus;Yamazaki;Sci Immunol,2020

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