Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening-Reference-Cited by-同舟云学术

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

Published:2019-04-05 Issue: Volume:7 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Purswani Pooja,Meehan Cristina Adelia,Kuehn Hye Sun,Chang Yenhui,Dasso Joseph F.,Meyer Anna K.,Ujhazi Boglarka,Csomos Krisztian,Lindsay David,Alberdi Taylor,Joychan Sonia,Trotter Jessica,Duff Carla,Ellison Maryssa,Bleesing Jack,Kumanovics Attila,Comeau Anne M.,Hale Jaime E.,Notarangelo Luigi D.,Torgersen Troy R.,Ochs Hans D.,Sriaroon Panida,Oshrine Benjamin,Petrovic Aleksandra,Rosenzweig Sergio D.,Leiding Jennifer W.,Walter Jolan E.

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology, and Child Health

Reference19 articles.

1. Severe combined immunodeficiencies and related disorders;Fischer;Nat Rev Dis Primers.,2015

2. Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency;Bacchelli;J Allergy Clin Immunol.,2017

3. First case of X-linked moesin deficiency identified after newborn screening for SCID;Delmonte;J Clin Immunol.,2017

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1. A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers;Journal of Medical Case Reports;2023-07-18

2. Advances in the Molecular Etiology of Severe Combined Immunodeficiency and Its Screening;Turkish Journal of Immunology;2023-04-26

3. Updates on Severe Combined Immunodeficiency;Common Pediatric Diseases: an Updated Review;2022-04-13

4. A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity;Frontiers in Immunology;2021-11-09

5. X-linked SCID with a rare mutation;Allergy, Asthma & Clinical Immunology;2021-10-11