Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype-Reference-Cited by-同舟云学术

Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype

Published:2023-06 Issue: Volume:251 Page:109316
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

Chiriaco Maria,De Matteis Arianna,Cifaldi Cristina,Di Matteo Gigliola,Rivalta Beatrice,Passarelli Chiara,Perrone Chiara,Novelli Antonio,De Benedetti Fabrizio,Insalaco Antonella,Palma Paolo,Finocchi Andrea

Funder

Sapienza Università di Roma

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference14 articles.

1. Chronic granulomatous disease: clinical, molecular, and therapeutic aspects;Chiriaco;Pediatr. Allergy Immunol.,2016

2. Hematologically important mutations: X-linked chronic granulomatous disease (fourth update);Roos;Blood Cells Mol. Dis.,2021

3. Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update);Roos;Blood Cells Mol. Dis.,2021

4. X-linked carriers of chronic granulomatous disease: illness, lyonization, and stability;Marciano;J. Allergy Clin. Immunol.,2018

5. A homozygous loss-off function mutation leading to CYBC1 defciency causes chronic granulomatous disease;Arnadottir;Nat. Commun.,2018

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