Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature-Reference-Cited by-同舟云学术

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

Published:2019-01-21 Issue: Volume:6 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Staines Boone Aidé Tamara,Chinn Ivan K.,Alaez-Versón Carmen,Yamazaki-Nakashimada Marco A.,Carrillo-Sánchez Karol,García-Cruz María de la Luz Hortensia,Poli M. Cecilia,González Serrano M. Edith,Medina Torres Edgar A.,Muzquiz Zermeño David,Forbes Lisa R.,Espinosa-Rosales Francisco J.,Espinosa-Padilla Sara E.,Orange Jordan S.,Lugo Reyes Saul Oswaldo

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology and Child Health

Reference31 articles.

1. DNA ligase IV syndrome; a review;Altmann;Orphanet J Rare Dis.,2016

2. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV;Buck;Eur J Immunol.,2006

3. The 2017 IUIS phenotypic classification for primary immunodeficiencies;Bousfiha;J Clin Immunol.,2017

4. Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms;Girard;Hum Mol Genet.,2004

5. Ligase-4 deficiency causes distinctive immune abnormalities in asymptomatic individuals;Felgentreff;J Clin Immunol.,2016

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3. Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency;Journal of Allergy and Clinical Immunology;2023-08

4. DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report;BMC Pediatrics;2022-10-11

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