{"id":24240,"date":"2025-02-11T12:00:00","date_gmt":"2025-02-11T11:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2025\/02\/11\/early-haploidentical-hematopoietic-stem-cell-transplantation-provides-rapid-leukocyte-and-immune-reconstitution-in-ak2-patient-identified-by-trec-newborn-screening\/"},"modified":"2025-02-11T12:00:00","modified_gmt":"2025-02-11T11:00:00","slug":"early-haploidentical-hematopoietic-stem-cell-transplantation-provides-rapid-leukocyte-and-immune-reconstitution-in-ak2-patient-identified-by-trec-newborn-screening","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2025\/02\/11\/early-haploidentical-hematopoietic-stem-cell-transplantation-provides-rapid-leukocyte-and-immune-reconstitution-in-ak2-patient-identified-by-trec-newborn-screening\/","title":{"rendered":"Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening"},"content":{"rendered":"<div>\n<p><b>J Clin Immunol<\/b>. 2025 Feb 11;45(1):74. doi: 10.1007\/s10875-025-01863-5.<\/p>\n<p><b>ABSTRACT<\/b><\/p>\n<p>Reticular dysgenesis (RD) is a rare inborn error of immune cell formation defined by severe combined immunodeficiency, agranulocytosis and sensorineural deafness. We report a case of successful haploidentical maternal hematopoietic stem cell transplantation (HSCT) in a boy with RD detected by TREC newborn screening. The patient was admitted to our hospital at 2 weeks of age and was kept in laminar-air flow \/ hepa-filtered isolation until HSCT was performed at 8 weeks of age with a busulfan, fludarabine conditioning regime. Except few episodes of acute skin graft-versus-host disease (aGVHD) the peritransplant period was uneventful. The patient was discharged 7 weeks post-HSCT. At 18 months of age cochlear implants were placed. The patient was thriving well, showed full donor chimerism and a T cell count &gt; 1000 TCRab + CD3 + cells\/\u00b5l after one year. Our case highlights that severely immune-compromised patients with RD benefit from early diagnosis by newborn screening, immediate isolation to prevent infections, and early haploidentical HSCT to overcome neonatal neutropenia and establish protective immunity.<\/p>\n<p>PMID:<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39932644\/?utm_source=WordPress&amp;utm_medium=rss&amp;utm_campaign=journals&amp;utm_content=8102137&amp;ff=20250211125351&amp;v=2.18.0.post9+e462414\">39932644<\/a> | DOI:<a href=\"https:\/\/doi.org\/10.1007\/s10875-025-01863-5\">10.1007\/s10875-025-01863-5<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>J Clin Immunol. 2025 Feb 11;45(1):74. doi: 10.1007\/s10875-025-01863-5. ABSTRACT Reticular dysgenesis (RD) is a rare inborn error of immune cell formation defined by severe combined immunodeficiency, agranulocytosis and sensorineural deafness. We report a case of successful haploidentical maternal hematopoietic stem cell transplantation (HSCT) in a boy with RD detected by TREC newborn screening. The patient &#8230; <a title=\"Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening\" class=\"read-more\" href=\"https:\/\/inmuno.es\/index.php\/2025\/02\/11\/early-haploidentical-hematopoietic-stem-cell-transplantation-provides-rapid-leukocyte-and-immune-reconstitution-in-ak2-patient-identified-by-trec-newborn-screening\/\" aria-label=\"Read more about Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening\">Read more<\/a><\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[69,42],"tags":[],"class_list":["post-24240","post","type-post","status-publish","format-standard","hentry","category-journal-of-clinical-immunology","category-publicaciones"],"_links":{"self":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/24240","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/comments?post=24240"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/24240\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=24240"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=24240"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=24240"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}