Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022).

Autor: Habib Dzulkarnain SM; Primary Immunodeficiency Diseases Group, Department of Clinical Medicine, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam 13200 Kepala Batas, Pulau Pinang, Malaysia.; Cawangan Pulau Pinang, Fakulti Sains Kesihatan, Universiti Teknologi MARA, Kampus Bertam, 13200, Kepala Batas, Pulau Pinang, Malaysia., Hashim IF; Primary Immunodeficiency Diseases Group, Department of Clinical Medicine, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam 13200 Kepala Batas, Pulau Pinang, Malaysia., Zainudeen ZT; Primary Immunodeficiency Diseases Group, Department of Clinical Medicine, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam 13200 Kepala Batas, Pulau Pinang, Malaysia., Taib F; Department of Paediatric, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.; Hospital USM, 16150 Kubang Kerian, Kelantan, Malaysia., Mohamad N; Department of Paediatric, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.; Hospital USM, 16150 Kubang Kerian, Kelantan, Malaysia., Nasir A; Department of Paediatric, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.; Hospital USM, 16150 Kubang Kerian, Kelantan, Malaysia., Wan Ab Rahman WS; Hospital USM, 16150 Kubang Kerian, Kelantan, Malaysia.; School of Dental Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia., Ariffin H; Department of Paediatrics, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia., Abd Hamid IJ; Primary Immunodeficiency Diseases Group, Department of Clinical Medicine, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam 13200 Kepala Batas, Pulau Pinang, Malaysia. intanj@usm.my.
Jazyk: angličtina
Zdroj: Journal of clinical immunology [J Clin Immunol] 2023 Oct; Vol. 43 (7), pp. 1623-1639. Date of Electronic Publication: 2023 Jun 16.
DOI: 10.1007/s10875-023-01532-5
Abstrakt: Purine nucleoside phosphorylase deficient severe combined immunodeficiency (PNP SCID) is one of the rare autosomal recessive primary immunodeficiency disease, and the data on epidemiology and outcome are limited. We report the successful management of a child with PNP SCID and present a systematic literature review of published case reports, case series, and cohort studies on PNP SCID listed in PubMed, Web of Science, and Scopus from 1975 until March 2022. Forty-one articles were included from the 2432 articles retrieved and included 100 PNP SCID patients worldwide. Most patients presented with recurrent infections, hypogammaglobulinaemia, autoimmune manifestations, and neurological deficits. There were six reported cases of associated malignancies, mainly lymphomas. Twenty-two patients had undergone allogeneic hematopoietic stem cell transplantation with full donor chimerism seen mainly in those receiving matched sibling donors and/or conditioning chemotherapy before the transplant. This research provides a contemporary, comprehensive overview on clinical manifestations, epidemiology, genotype mutations, and transplant outcome of PNP SCID. These data highlight the importance of screening for PNP SCID in cases presented with recurrent infections, hypogammaglobulinaemia, and neurological deficits.
(© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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