{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:16:14Z","timestamp":1787026574197,"version":"build-2736575974"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:00:00Z","timestamp":1778630400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Chromosome 22q11.2 deletion syndrome (22q11DS) presents a wide variability of phenotypic features, including different grades of immune dysfunctions, leading to increased susceptibility to infections, autoimmune diseases and atopy. The most common autoimmune manifestation in 22q11DS patients is immune thrombocytopenia (ITP), which is often relapsing and refractory to standard therapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We present a cohort of four pediatric\/adolescents 22q11DS patients presenting with refractory ITP, treated with low dosage Mycophenolate Mofetil (MMF) for more than 24 months. We performed complete deep longitudinal immunological investigations by multiparametric flow cytometry, and monitored blood counts as well as EBV viremia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>All four patients didn\u2019t experience any relapse since the beginning of MMF therapy. Three out of four showed a complete remission with PLT &amp;gt; 100000\/uL. All the patients presented immunological features reported to be associated with immunodysregulation: reduced na\u00efve CD4+T cells and memory B cells, increased cTfh cells and reduced Treg cells frequency. During MMF treatment we detected a decrease in cTfh frequency and a reduction in PD-1 expression along with a moderate recovery of regulatory T cells.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>MMF treatment was associated with sustained platelet stabilization in this cohort. Specific immunological biomarkers could help monitor treatment response, guide clinicians in selecting targeted therapies and may be used to monitor the response to therapy over time.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1819182","type":"journal-article","created":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T04:45:29Z","timestamp":1778647529000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome"],"prefix":"10.3389","volume":"17","author":[{"given":"Cristina","family":"Cifaldi","sequence":"first","affiliation":[{"name":"Department of Systems Medicine, University of Rome Tor Vergata","place":["Rome, Italy"]},{"name":"Research Unit of Primary Immunodeficiencies, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Pacillo","sequence":"additional","affiliation":[{"name":"Research Unit of Primary Immunodeficiencies, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Rossetti","sequence":"additional","affiliation":[{"name":"Clinical Immunology and Vaccinology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Di Cesare","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, University of Rome Tor Vergata","place":["Rome, Italy"]},{"name":"Research Unit of Primary Immunodeficiencies, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"La Manna","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hemato-Oncology and Cell and Gene Therapy, Bambino Ges\u00f9 Children\u2019s Hospital, Scientific Institute for Research and Healthcare (IRCCS)","place":["Rome, Italy"]},{"name":"Residency School of Pediatrics, University of Rome \u201cTor Vergata\u201d","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Santilli","sequence":"additional","affiliation":[{"name":"Clinical Immunology and Vaccinology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Rivalta","sequence":"additional","affiliation":[{"name":"Research Unit of Primary Immunodeficiencies, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]},{"name":"Clinical Immunology and Vaccinology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Lembo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hemato-Oncology and Cell and Gene Therapy, Bambino Ges\u00f9 Children\u2019s Hospital, Scientific Institute for Research and Healthcare (IRCCS)","place":["Rome, Italy"]},{"name":"Residency School of Pediatrics, University of Rome \u201cTor Vergata\u201d","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattia","family":"Moratti","sequence":"additional","affiliation":[{"name":"Research Unit of Primary Immunodeficiencies, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]},{"name":"Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, University of Bologna","place":["Bologna, Italy"]},{"name":"PhD Program in Immunology, Molecular Medicine and Applied Biotechnology, University of Rome Tor Vergata","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Colucci","sequence":"additional","affiliation":[{"name":"Research Unit of Primary Immunodeficiencies, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]},{"name":"PhD Program in Immunology, Molecular Medicine and Applied Biotechnology, University of Rome Tor Vergata","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gigliola","family":"Di Matteo","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, University of Rome Tor Vergata","place":["Rome, Italy"]},{"name":"Research Unit of Primary Immunodeficiencies, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Palma","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, University of Rome Tor Vergata","place":["Rome, Italy"]},{"name":"Clinical Immunology and Vaccinology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Pulvirenti","sequence":"additional","affiliation":[{"name":"Reference Centre for Primary Immune Deficiencies, Sapienza University Hospital Policlinico Umberto I","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma Concetta","family":"Manno","sequence":"additional","affiliation":[{"name":"Clinical Immunology and Vaccinology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Palumbo","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, University of Rome Tor Vergata","place":["Rome, Italy"]},{"name":"Department of Pediatric Hemato-Oncology and Cell and Gene Therapy, Bambino Ges\u00f9 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