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      An updated review on phenocopies of primary immunodeficiency diseases

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          Abstract

          Primary immunodeficiency diseases (PIDs) refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections, autoimmunity and increased risk of malignancies.

          These group of disorders present with clinical manifestations similar to PIDs with known genetic defects but have either no genetic defect or have a somatic mutation and thus have been labelled as “Phenocopies of PIDs”. These diseases have been further subdivided into those associated with somatic mutations and those associated with presence of auto-antibodies against various cytokines.

          In this review, we provide an update on clinical manifestations, diagnosis and management of these diseases.

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          Most cited references113

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          The Fas death factor

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            Adult-Onset Immunodeficiency in Thailand and Taiwan

            New England Journal of Medicine, 367(8), 725-734
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              Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.

              Five unrelated children are described with a rare autoimmune lymphoproliferative syndrome (ALPS) characterized by massive nonmalignant lymphadenopathy, autoimmune phenomena, and expanded populations of TCR-CD3+CD4-CD8- lymphocytes. These findings, suggesting a genetic defect in the ability of T lymphocytes to respond to normal immunoregulatory mechanisms, prompted an evaluation of lymphocyte apoptosis. Each child had defective Fas-mediated T lymphocyte apoptosis associated with a unique, deleterious Fas gene mutation. One mutation appeared to cause a simple loss of function; however, four others had a dominant negative phenotype when coexpressed with normal Fas. Family studies demonstrated the inheritance of the mutant Fas alleles. The occurrence of Fas mutations together with abnormal T cell apoptosis in ALPS patients suggests an involvement of Fas in this recently recognized disorder of lymphocyte homeostasis and peripheral self-tolerance.
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                Author and article information

                Contributors
                Journal
                Genes Dis
                Genes Dis
                Genes & Diseases
                Chongqing Medical University
                2352-4820
                2352-3042
                24 September 2019
                March 2020
                24 September 2019
                : 7
                : 1
                : 12-25
                Affiliations
                [1]Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
                Author notes
                []Corresponding author. ankurjindal11@ 123456gmail.com
                Article
                S2352-3042(19)30076-5
                10.1016/j.gendis.2019.09.007
                7063430
                32181272
                f2a1d876-c7cc-4289-8bb4-fe04961f8360
                © 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                : 1 July 2019
                : 28 August 2019
                : 4 September 2019
                Categories
                Article

                anti-cytokine antibodies,phenocopies,primary immunodeficiency diseases,somatic mutations

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