{"id":21447,"date":"2025-01-06T12:00:00","date_gmt":"2025-01-06T11:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2025\/01\/06\/outcomes-of-hematopoietic-stem-cell-transplantation-in-5-patients-with-autosomal-recessive-ripk1-deficiency\/"},"modified":"2025-01-06T12:00:00","modified_gmt":"2025-01-06T11:00:00","slug":"outcomes-of-hematopoietic-stem-cell-transplantation-in-5-patients-with-autosomal-recessive-ripk1-deficiency","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2025\/01\/06\/outcomes-of-hematopoietic-stem-cell-transplantation-in-5-patients-with-autosomal-recessive-ripk1-deficiency\/","title":{"rendered":"Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency"},"content":{"rendered":"<div>\n<p><b>J Clin Immunol<\/b>. 2025 Jan 6;45(1):65. doi: 10.1007\/s10875-024-01850-2.<\/p>\n<p><b>ABSTRACT<\/b><\/p>\n<p>Receptor Interacting Serine\/Threonine Kinase 1 (RIPK1) is widely expressed and integral to inflammatory and cell death responses. Autosomal recessive RIPK1-deficiency, due to biallelic loss of function mutations in RIPK1, is a rare inborn error of immunity (IEI) resulting in uncontrolled necroptosis, apoptosis and inflammation. Although hematopoietic stem cell transplantation (HSCT) has been suggested as a potential curative therapy, the extent to which disease may be driven by extra-hematopoietic effects of RIPK1-deficiency, which are non-amenable to HSCT, is not clear. We present a multi-centre, international review of an additional 5 RIPK1-deficient children who underwent HSCT. All patients presented with very early onset inflammatory bowel disease, 2 also suffered from inflammatory arthritis. Median age at transplant was 3 years (range 1-5 years); 1 received matched sibling marrow, 1 matched unrelated peripheral blood stem cells (PBSC), 2 TCR\u03b1\u03b2\/CD19-depleted PBSC from maternal-haploidentical donors, and 1 had TCR\u03b1\u03b2\/CD19-depleted PBSC from a mismatched unrelated donor. All received reduced-toxicity conditioning, based on treosulfan (n = 4) or busulfan (n = 1); 1 patient underwent a successful second transplant following autologous reconstitution. Four of five patients (80%) survived; 1 child died due to multi-drug resistant pseudomonas infection and multi-organ failure. With a median duration of 14 months follow-up, 2 survivors were disease-free, and 2 had substantially improving enteropathy. These findings demonstrated that HSCT is a potential curative therapy for RIPK1-deficiency.<\/p>\n<p>PMID:<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39762600\/?utm_source=WordPress&amp;utm_medium=rss&amp;utm_campaign=journals&amp;utm_content=8102137&amp;ff=20250107005936&amp;v=2.18.0.post9+e462414\">39762600<\/a> | DOI:<a href=\"https:\/\/doi.org\/10.1007\/s10875-024-01850-2\">10.1007\/s10875-024-01850-2<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>J Clin Immunol. 2025 Jan 6;45(1):65. doi: 10.1007\/s10875-024-01850-2. ABSTRACT Receptor Interacting Serine\/Threonine Kinase 1 (RIPK1) is widely expressed and integral to inflammatory and cell death responses. Autosomal recessive RIPK1-deficiency, due to biallelic loss of function mutations in RIPK1, is a rare inborn error of immunity (IEI) resulting in uncontrolled necroptosis, apoptosis and inflammation. Although hematopoietic &#8230; <a title=\"Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency\" class=\"read-more\" href=\"https:\/\/inmuno.es\/index.php\/2025\/01\/06\/outcomes-of-hematopoietic-stem-cell-transplantation-in-5-patients-with-autosomal-recessive-ripk1-deficiency\/\" aria-label=\"Read more about Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency\">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-21447","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\/21447","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=21447"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/21447\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=21447"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=21447"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=21447"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}