Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C-Reference-Cited by-同舟云学术

Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C

Published:2019-03 Issue: Volume:200 Page:16-18
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

Sundin Mikael,Marits Per,Ramme Kim,Kolios Antonios G.A.,Nilsson Jakob^ORCID

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference11 articles.

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3. The many faces of Artemis-deficient combined immunodeficiency - two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation;Lee;Clin. Immunol.,2013

4. Evaluation of T and B lymphocyte function in clinical practice using a flow cytometry based proliferation assay;Marits;Clin. Immunol.,2014

5. Primary immunodeficiency disorders: antibody deficiency;Ballow;J. Allergy Clin. Immunol.,2002

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1. Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene;Allergy, Asthma & Clinical Immunology;2023-02-21

2. High-Frequency Exon Deletion of DNA Cross-Link Repair 1C Accounting for Severe Combined Immunodeficiency May Be Missed by Whole-Exome Sequencing;Frontiers in Genetics;2021-08-04

3. LncRNA CTD-2528L19.6 prevents the progression of IPF by alleviating fibroblast activation;Cell Death & Disease;2021-06

4. Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency;Clinical Immunology;2020-04

5. Positive newborn screen: a case of a novel variant in DCLRE1C in a patient with SCID;LymphoSign Journal;2020-03-01