{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T08:05:01Z","timestamp":1762761901701,"version":"build-2065373602"},"reference-count":59,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,5,11]],"date-time":"2022-05-11T00:00:00Z","timestamp":1652227200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Council of Science and Technology (CONACYT)","award":["BIO-2015-264360","295230"],"award-info":[{"award-number":["BIO-2015-264360","295230"]}]},{"name":"Complementary Supports for the Consolidation of National Laboratories CONACYT","award":["BIO-2015-264360","295230"],"award-info":[{"award-number":["BIO-2015-264360","295230"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease defined as a defect in the lymphocyte apoptotic pathway. Currently, the diagnosis of ALPS is based on clinical aspects, defective lymphocyte apoptosis and mutations in Fas, FasL and Casp 10 genes. Despite this, ALPS has been misdiagnosed. The aim of this work was to go one step further in the knowledge of the disease, through a molecular and proteomic analysis of peripheral blood mononuclear cells (PBMCs) from two children, a 13-year-old girl and a 6-year-old boy, called patient 1 and patient 2, respectively, with clinical data supporting the diagnosis of ALPS. Fas, FasL and Casp10 genes from both patients were sequenced, and a sample of the total proteins from patient 1 was analyzed by label-free proteomics. Pathway analysis of deregulated proteins from PBMCs was performed on the STRING and PANTHER bioinformatics databases. A mutation resulting in an in-frame premature stop codon and protein truncation was detected in the Fas gene from patient 2. From patient 1, the proteomic analysis showed differences in the level of expression of proteins involved in, among other processes, cell cycle, regulation of cell cycle arrest and immune response. Noticeably, the most down-regulated protein is an important regulator of the cell cycle process. This could be an explanation of the disease in patient 1.<\/jats:p>","DOI":"10.3390\/ijms23105366","type":"journal-article","created":{"date-parts":[[2022,5,11]],"date-time":"2022-05-11T10:19:46Z","timestamp":1652264386000},"page":"5366","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Differential Expression of Proteins in an Atypical Presentation of Autoimmune Lymphoproliferative Syndrome"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5057-7727","authenticated-orcid":false,"given":"Dulce Mar\u00eda","family":"Delgadillo","sequence":"first","affiliation":[{"name":"Unidad de Gen\u00f3mica, Prote\u00f3mica y Metabol\u00f3mica, Laboratorio Nacional de Servicios Experimentales (LaNSE), Centro de Investigaci\u00f3n y de Estudios Avanzados, Mexico City 07360, CP, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana Ivonne","family":"C\u00e9spedes-Cruz","sequence":"additional","affiliation":[{"name":"Unidad M\u00e9dica de Alta Especialidad (UMAE), Centro M\u00e9dico Nacional La Raza Hospital General, Mexico City 02990, CP, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7671-7943","authenticated-orcid":false,"given":"Emmanuel","family":"R\u00edos-Castro","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00f3mica, Prote\u00f3mica y Metabol\u00f3mica, Laboratorio Nacional de Servicios Experimentales (LaNSE), Centro de Investigaci\u00f3n y de Estudios Avanzados, Mexico City 07360, CP, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Guadalupe","family":"Rodr\u00edguez Maldonado","sequence":"additional","affiliation":[{"name":"Unidad M\u00e9dica de Alta Especialidad (UMAE), Centro M\u00e9dico Nacional La Raza Hospital General, Mexico City 02990, CP, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariel","family":"L\u00f3pez-Nogueda","sequence":"additional","affiliation":[{"name":"Unidad M\u00e9dica de Alta Especialidad (UMAE), Centro M\u00e9dico Nacional La Raza Hospital General, Mexico City 02990, CP, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"M\u00e1rquez-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Unidad M\u00e9dica de Alta Especialidad (UMAE), Centro M\u00e9dico Nacional La Raza Hospital General, Mexico City 02990, CP, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roc\u00edo","family":"Villalobos-Manzo","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados, Mexico City 07360, CP, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorena","family":"Ram\u00edrez-Reyes","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00f3mica, Prote\u00f3mica y Metabol\u00f3mica, Laboratorio Nacional de Servicios Experimentales (LaNSE), Centro de Investigaci\u00f3n y de Estudios Avanzados, Mexico City 07360, CP, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Misael","family":"Dom\u00ednguez-Fuentes","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00f3mica, Prote\u00f3mica y Metabol\u00f3mica, Laboratorio Nacional de Servicios Experimentales (LaNSE), Centro de Investigaci\u00f3n y de Estudios Avanzados, Mexico City 07360, CP, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Tapia-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00f3mica, Prote\u00f3mica y Metabol\u00f3mica, Laboratorio Nacional de Servicios Experimentales (LaNSE), Centro de Investigaci\u00f3n y de Estudios Avanzados, Mexico City 07360, CP, Mexico"},{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados, Mexico City 07360, CP, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1989","DOI":"10.1182\/blood-2013-10-535393","article-title":"Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations","volume":"123","author":"Price","year":"2014","journal-title":"Blood"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1182\/blood.V98.1.194","article-title":"The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte 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