Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.E349del1
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XIAP

NM_001167.4:p.E349del1

Associated Papers

Rapid flow cytometric diagnosis of XIAP deficiency.

Wakatsuki R et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2026

Refractory atopic dermatitis in a child with hypomorphic mutation in XIAP gene and low serum IgG.

Inoue T et al.

The Journal of Dermatology, 2023

Interpretation of XIAP Variants of Uncertain Significance in Paediatric Patients with Refractory Crohn's Disease.

Chang I et al.

Journal of Crohn's & Colitis, 2021

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

32868804 (PubMed )
Supplement: 41598_2020_71386_MOESM1_ESM.pdf

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.

Xu T et al.

European Journal of Pediatrics, 2020

Systemic Epstein-Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants.

Ishimura M et al.

Frontiers in Pediatrics, 2019

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Ono S et al.

International Journal of Hematology, 2018

Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.

Nishida N et al.

Journal of Investigational Allergology & Clinical Immunology, 2015

Clinical and genetic characteristics of XIAP deficiency in Japan.

Yang X et al.

Journal of Clinical Immunology, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."