{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T17:48:29Z","timestamp":1790358509915,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T00:00:00Z","timestamp":1618012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Immunity Inflam &amp;amp; Disease"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), and autoimmune neutropenia (AIN) are disorders characterized by immune\u2010mediated destruction of hematopoietic cell lineages. A link between pediatric immune cytopenias and inborn errors of immunity (IEI) was established in particular in the combined and chronic forms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Aim of this study is to provide clinical\u2010immunological parameters to hematologists useful for a prompt identification of children with immune cytopenias deserving a deeper immunological and genetic evaluation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively collected 47 pediatric patients with at least one hematological disorder among which persistent\/chronic ITP, AIHA, and AIN, aged 0\u201318 years at onset of immune cytopenias and\/or immune\u2010dysregulation. The cohort was divided into two groups (IEI+ and IEI\u2212), based on the presence\/absence of underlying IEI diagnosis. IEI+ group, formed by 19\/47 individuals, included: common variable immune deficiency (CVID; 9\/19), autoimmune lymphoproliferative syndrome (ALPS; 4\/19), DiGeorge syndrome (1\/19), and unclassified IEI (5\/19).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      IEI prevalence among patients with ITP, AIHA, AIN, and Evans Syndrome was respectively of 42%, 64%, 36%, and 62%. In IEI+ group the extended immunophenotyping identified the presence of statistically significant (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u2009.05) specific characteristics, namely T\/B lymphopenia, decrease in na\u0457ve T\u2010cells%, switched memory B\u2010cells%, plasmablasts%, and\/or immunoglobulins, increase in effector\/central memory T\u2010cells% and CD21low B\u2010cells%. Except for DiGeorge and three ALPS patients, only 2\/9 CVID patients had a molecular diagnosis for IEI: one carrying the pathogenic variant CR2:c.826delT, the likely pathogenic variant PRF1:c.272C&gt; and the compound heterozygous\n                      <jats:italic>TNFRSF13B<\/jats:italic>\n                      variants p.Ser144Ter (pathogenic) and p.Cys193Arg (variant of uncertain significance), the other one carrying the likely pathogenic monoallelic variant TNFRSF13B:p.Ile87Asn.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The synergy between hematologists and immunologists can improve and fasten diagnosis and management of patients with immune cytopenias through a wide focused clinical\/immunophenotypical characterization, which identifies children worthy of IEI\u2010related molecular analysis, favouring a genetic IEI diagnosis and potentially unveiling new targeted\u2010gene variants responsible for IEI phenotype.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/iid3.420","type":"journal-article","created":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T05:40:12Z","timestamp":1618033212000},"page":"583-594","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Immune cytopenias as a continuum in inborn errors of immunity: An in\u2010depth clinical and immunological exploration"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9895-5942","authenticated-orcid":false,"given":"Daniele","family":"Zama","sequence":"first","affiliation":[{"name":"Pediatric Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Conti","sequence":"additional","affiliation":[{"name":"Pediatric Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattia","family":"Moratti","sequence":"additional","affiliation":[{"name":"Pediatric Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria E.","family":"Cantarini","sequence":"additional","affiliation":[{"name":"Pediatric Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Facchini","sequence":"additional","affiliation":[{"name":"Pediatric Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Rivalta","sequence":"additional","affiliation":[{"name":"Pediatric Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna 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