{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:39:53Z","timestamp":1753879193172,"version":"3.41.2"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,12,29]],"date-time":"2020-12-29T00:00:00Z","timestamp":1609200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>SCID are characterized by an imbalance in cellular and humoral immunity. Enzyme ADA deficiency represents from 10% to 15% of the SCID. This generates diminished maturation of the cell precursors. Treatments include enzyme replacement therapy, allogenic, or autologous HSCT with gene therapy, with HSCT being of choice when an identical HLA donor exists.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report<\/jats:title><jats:p>Male patient, without relevant family antecedents or consanguinity. The patient had multiple infections during the first months of life, evidencing low immunoglobulin levels, with absence of T and B lymphocytes, and natural killer cells. Severe combined immunodeficiencies are considered due to ADA deficiency; management was begun and is derived to our hospital. Admission at 8\u00a0months of life, with chronic malnutrition and psychomotor retardation. The HLA studies were conducted without finding an identical donor, taken to HSCT with haploidentical donor. Conditioning regimen with cyclophosphamide, fludarabine, melphalan, and thymoglobulin. This patient received prophylaxis for graft\u2010versus\u2010host disease with cyclophosphamide, cyclosporine, and methotrexate. A 22\u00a0months post\u2010transplant, the patient was without immunosuppressants or immunoglobulin, without evidence of graft\u2010versus\u2010host disease or new infections.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The ADA deficiency is an infrequent pathology that can be potentially fatal if adequate treatment is not started. Haploidentical HSCT, using post\u2010transplantation cyclophosphamide, emerges as a viable option with which good results can be achieved and improve the quality of life in patients with no other therapeutic alternatives.<\/jats:p><\/jats:sec>","DOI":"10.1111\/petr.13954","type":"journal-article","created":{"date-parts":[[2020,12,30]],"date-time":"2020-12-30T07:51:08Z","timestamp":1609314668000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Successful engraftment of haploidentical stem cell transplant with post\u2010transplantation cyclophosphamide in a patient with adenosine deaminase deficiency"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1465-7957","authenticated-orcid":false,"given":"Diego","family":"Medina","sequence":"first","affiliation":[{"name":"Stem Cell Transplantation Unit Department of Pediatrics Faculty of Medicine Fundaci\u00f3n Valle del Lili Universidad Icesi Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana M.","family":"Aristizabal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Resident in Pediatrics Faculty of Medicine Fundaci\u00f3n Valle del Lili Universidad Icesi Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana","family":"Madro\u00f1ero","sequence":"additional","affiliation":[{"name":"Stem Cell Transplantation Unit Department of Pediatrics Faculty of Medicine Fundaci\u00f3n Valle del Lili Universidad Icesi Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Perez","sequence":"additional","affiliation":[{"name":"Division of Pediatric Infectious Diseases Department of Pediatrics Faculty of Medicine Fundaci\u00f3n Valle del Lili Universidad Icesi Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime","family":"Pati\u00f1o Ni\u00f1o","sequence":"additional","affiliation":[{"name":"Division of Pediatric Infectious Diseases Department of Pediatrics Faculty of Medicine Fundaci\u00f3n Valle del Lili Universidad Icesi Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Olaya","sequence":"additional","affiliation":[{"name":"Allergy and Clinical Immunology Unit Department of Pediatrics Faculty of Medicine Fundaci\u00f3n Valle del Lili Universidad Icesi Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,29]]},"reference":[{"issue":"1","key":"e_1_2_6_2_1","first-page":"75","article-title":"Deficiencia de adenosina desaminasa (ADA): aspectos cl\u00ednicos, bioqu\u00edmicos, moleculares y de tratamiento [Deficiency of adenosine desaminase (ADA): clinical, biochemical, molecular and treatment aspects]","volume":"63","author":"Tintos\u2010Hern\u00e1ndez JA","year":"2011","journal-title":"Rev Invest Clin"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2009.1.139"},{"key":"e_1_2_6_4_1","unstructured":"Online Mendelian Inheritance in Man OMIM (TM).Johns Hopkins University.Baltimore MD. 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