Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections-Reference-Cited by-同舟云学术

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

Published:2013-02 Issue:2 Volume:131 Page:594-597.e3
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Dinwiddie Darrell L.,Kingsmore Stephen F.,Caracciolo Sonia,Rossi Giuseppe,Moratto Daniele,Mazza Cinzia,Sabelli Cristiano,Bacchetta Rosa,Passerini Laura,Magri Chiara,Bell Callum J.,Miller Neil A.,Hateley Shannon L.,Saunders Carol J.,Zhang Lu,Schroth Gary P.,Barlati Sergio,Badolato Raffaele

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference9 articles.

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3. Defective regulatory and effector T cell functions in patients with FOXP3 mutations;Bacchetta;J Clin Invest,2006

4. “GenotypeColour”: colour visualisation of SNPs and CNVs;Barlati;BMC Bioinformatics,2009

5. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome;Badolato;Blood,2012

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1. Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis;Frontiers in Immunology;2021-04-16

2. Clinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome;The Journal of Allergy and Clinical Immunology: In Practice;2020-09

3. Genome and Exome Sequencing;Hematology, Immunology and Genetics;2019

4. Implementation of Genome Sequencing Assays;Genomic Applications in Pathology;2018-12-11

5. Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome;Frontiers in Immunology;2018-11-01