Material and methods: We retrospectively evaluated the clinical course and results of biochemical, immunological and genetic tests of 7 patients diagnosed in Poland with ADA deficiency since 2010 to 2022. HSCT from a matched unrelated donor (MUD) and haploidentical hematopoietic stem cell transplantation (hHSCT) are associated with worse prognosis. In absence of such donor, gene therapy (GT) should be considered. Hematopoietic stem cell transplantation (HSCT) from a matched related donor (MRD) is a treatment of choice. According to ESID and EBMT recommendations enzyme replacement therapy (ERT) should be implemented as soon as possible to stabilize the patient’s general condition, normalize transaminases, treat pulmonary proteinosis, bone dysplasia, and protect from neurological damage. Untreated patients develop immune and non-immune symptoms with fatal clinical course. Introduction: Deficiency of adenosine deaminase (ADA) manifests as severe combined immunodeficiency (SCID), caused by accumulation of toxic purine degradation by-products. 6Department of Clinical Immunology and Transplantology, Faculty of Medicine, Jagiellonian University Medical College, Kraków, Poland.5Department of Pediatrics, Hematology and Oncology, Faculty of Medicine, Nicolaus Copernicus University in Toruń, Bydgoszcz, Poland.4Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology, Wroclaw Medical University, Wroclaw, Poland.3Biochemistry Department, Medical University of Gdansk, Gdansk, Poland.2Histocompatibility Laboratory, Children’s Memorial Health Institute (IPCZD), Warsaw, Masovian, Poland.1Department of Immunology, Children’s Memorial Health Institute, Warsaw, Poland. Nel Dąbrowska-Leonik 1* Barbara Piątosa 2 Ewa Słomińska 3 Nadezda Bohynikova 1 Katarzyna Bernat-Sitarz 1 Ewa Bernatowska 1 Beata Wolska-Kuśnierz 1 Krzysztof Kałwak 4 Sylwia Kołtan 5 Anna Dąbrowska 5 Jolanta Goździk 6 Marek Ussowicz 4 Małgorzata Pac 1
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