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| http://dx.doi.org/10.46497/ArchRheumatol.2020.7798 | DOI Listing |
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The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency-Like Disorders.
J Allergy Clin Immunol Pract
June 2023
Department of Immunology, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia; Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, Australia.
Article Synopsis
- The understanding of Common Variable Immunodeficiency Disorders (CVID) is evolving, with new diagnostic criteria enabling more precise identification of the disorder.
- Next-generation sequencing (NGS) has revealed that many patients exhibit a genetic variant causing their symptoms, leading to a distinction between CVID and CVID-like disorders.
- In consanguineous populations, a high percentage of severe hypogammaglobulinemia cases are linked to inherited immunity disorders, while in others, about 20-30% of patients have pathogenic genetic mutations, adding complexity to disease severity and diagnosis.
Clinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.
J Allergy Clin Immunol Pract
September 2020
Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran. Electronic address:
Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare inborn error of immunity caused by mutations in the forkhead box P3 (FOXP3) gene.
Objective: In this study, we conducted a systematic review of patients with IPEX and IPEX-like syndrome to delineate differences in these 2 major groups.
Methods: The literature search was performed in PubMed, Web of Science, and Scopus databases, and demographic, clinical, immunologic, and molecular data were compared between the IPEX and IPEX-like groups.
Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab.
Arch Rheumatol
December 2020
Department of Child Health and Diseases, Division of Pediatric Rheumatology, Kanuni Sultan Süleyman Research and Training Hospital, İstanbul, Turkey.
Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.
J Clin Immunol
October 2017
Department of Clinical Immunology and Allergy, St James's University Hospital, Beckett Street, Leeds, UK.
Phospholipase C-gamma 2 couples Bruton's tyrosine kinase to the NF-kappaB signaling pathway in B lymphocytes.
J Biol Chem
January 2001
Department of Microbiology and Immunology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-0146, USA.
Mutations in the gene encoding Bruton's tyrosine kinase (BTK) interfere with B cell proliferation and lead to an X-linked immunodeficiency in mice characterized by reduced B cell numbers. Recent studies have established that BTK transmits signals from the B cell antigen receptor (BCR) to transcription factor NF-kappaB, which in turn reprograms a set of genes required for normal B cell growth. We now demonstrate that induction of NF-kappaB via this pathway requires the intermediate action of the -gamma2 isoform of phospholipase C (PLC-gamma2), a potential phosphorylation substrate of BTK.
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