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Successful engraftment of haploidentical stem cell transplant with post‐transplantation cyclophosphamide in a patient with adenosine deaminase deficiency
Author(s) -
Medina Diego,
Aristizabal Ana M.,
Madroñero Tatiana,
Perez Paola,
Patiño Niño Jaime,
Olaya Manuela
Publication year - 2021
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/petr.13954
Subject(s) - medicine , adenosine deaminase deficiency , cyclophosphamide , hematopoietic stem cell transplantation , transplantation , wiskott–aldrich syndrome , immunology , thymoglobulin , fludarabine , severe combined immunodeficiency , adenosine deaminase , chemotherapy , tacrolimus , biochemistry , chemistry , adenosine , gene
Background 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. Case report 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 months 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‐versus‐host disease with cyclophosphamide, cyclosporine, and methotrexate. A 22 months post‐transplant, the patient was without immunosuppressants or immunoglobulin, without evidence of graft‐versus‐host disease or new infections. Conclusions The ADA deficiency is an infrequent pathology that can be potentially fatal if adequate treatment is not started. Haploidentical HSCT, using post‐transplantation 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.