{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T03:18:25Z","timestamp":1772853505159,"version":"3.50.1"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2017,12,27]],"date-time":"2017-12-27T00:00:00Z","timestamp":1514332800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Tunisian Ministry of Higher Education and Research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,2,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency disease due to impaired Fas-Fas ligand apoptotic pathway. It is characterized by chronic nonmalignant, noninfectious lymphadenopathy and\/or splenomegaly associated with autoimmune manifestations primarily directed against blood cells. Herein, we review the heterogeneous ALPS molecular bases and discuss recent findings revealed by the study of consanguineous patients. Indeed, this peculiar genetic background favored the identification of a novel form of AR ALPS-FAS associated with normal or residual protein expression, expanding the spectrum of ALPS types. In addition, rare mutational mechanisms underlying the splicing defects of FAS exon 6 have been identified in AR ALPS-FAS with lack of protein expression. These findings will help decipher critical regions required for the tight regulation of FAS exon 6 splicing. We also discuss the genotype-phenotype correlation and disease severity in AR ALPS-FAS. Altogether, the study of ALPS molecular bases in endogamous populations helps to better classify the disease subgroups and to unravel the Fas pathway functioning.<\/jats:p>","DOI":"10.1002\/jlb.5mr0817-332r","type":"journal-article","created":{"date-parts":[[2017,12,27]],"date-time":"2017-12-27T14:38:59Z","timestamp":1514385539000},"page":"501-508","source":"Crossref","is-referenced-by-count":7,"title":["Novel insights into <i>FAS<\/i> defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients"],"prefix":"10.1093","volume":"103","author":[{"given":"Imen","family":"Ben-Mustapha","sequence":"first","affiliation":[{"name":"Department of Immunology and LR11IPT02, Institut Pasteur de Tunis , 1002 Tunis-Belv\u00e9d\u00e8re, Tunisia"},{"name":"The University of Tunis El Manar , Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nourhen","family":"Agrebi","sequence":"additional","affiliation":[{"name":"Department of Immunology and LR11IPT02, Institut Pasteur de Tunis , 1002 Tunis-Belv\u00e9d\u00e8re, Tunisia"},{"name":"The University of Tunis El Manar , Tunis, Tunisia"},{"name":"Faculty of Sciences of Bizerte, The University of Carthage , Bizerte, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed-Ridha","family":"Barbouche","sequence":"additional","affiliation":[{"name":"Department of Immunology and LR11IPT02, Institut Pasteur de Tunis , 1002 Tunis-Belv\u00e9d\u00e8re, Tunisia"},{"name":"The University of Tunis El Manar , Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2017,12,27]]},"reference":[{"key":"2023013012241790400_jlb10010-bib-0001","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1093\/eurpub\/cku104","article-title":"Consanguinity and genetic diseases in North Africa and immigrants to Europe","volume":"24","author":"Anwar","year":"2014","journal-title":"Eur J Public 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