Primary immunodeficiency in Africa - a review. Erjaee, A., Bagherpour, M., Van Rooyen, C., Van den Berg, S., Kinnear, C. J., Green, R. J., & Pepper, M. South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde, 109(8b):3–11, September, 2019. doi abstract bibtex BACKGROUND: Efforts have been made worldwide to improve awareness and treatment of primary immunodeficiency (PID). This has also gained momentum on the African continent albeit at a slower pace. Objective. This review reports on the current status of PID on the African continent regarding its prevalence, distribution, genetic mutations and challenges in diagnosis and treatment of affected patients. Method. We evaluated all studies published from the African continent in the field of PID dealing with prevalence, epidemiology, case reports and genetic findings. Results. The prevalence of PID on the African continent has been estimated to be as high as 902 631 individuals. PID still is mostly underdiagnosed in Africa and although progress has been made in parts of the continent many challenges still remain regarding awareness, diagnosis, registration and care of these patients. Conclusion. Given the unique genetic mutations reported in PID patients on the African continent and the feasibility of hematopoietic stem cell transplantation and gene therapy, increased awareness should be encouraged and new therapeutic options considered.
@article{erjaee_primary_2019,
title = {Primary immunodeficiency in {Africa} - a review},
volume = {109},
issn = {2078-5135},
doi = {10.7196/SAMJ.2019.v109i8b.13820},
abstract = {BACKGROUND: Efforts have been made worldwide to improve awareness and treatment of primary immunodeficiency (PID). This has also gained momentum on the African continent albeit at a slower pace. Objective. This review reports on the current status of PID on the African continent regarding its prevalence, distribution, genetic mutations and challenges in diagnosis and treatment of affected patients. Method. We evaluated all studies published from the African continent in the field of PID dealing with prevalence, epidemiology, case reports and genetic findings. Results. The prevalence of PID on the African continent has been estimated to be as high as 902 631 individuals. PID still is mostly underdiagnosed in Africa and although progress has been made in parts of the continent many challenges still remain regarding awareness, diagnosis, registration and care of these patients. Conclusion. Given the unique genetic mutations reported in PID patients on the African continent and the feasibility of hematopoietic stem cell transplantation and gene therapy, increased awareness should be encouraged and new therapeutic options considered.},
language = {eng},
number = {8b},
journal = {South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde},
author = {Erjaee, A. and Bagherpour, M. and Van Rooyen, C. and Van den Berg, S. and Kinnear, C. J. and Green, R. J. and Pepper, M.},
month = sep,
year = {2019},
pmid = {31662142},
keywords = {Africa, Genetic Therapy, Hematopoietic Stem Cell Transplantation, Humans, Mutation, Prevalence, Primary Immunodeficiency Diseases},
pages = {3--11},
}
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We evaluated all studies published from the African continent in the field of PID dealing with prevalence, epidemiology, case reports and genetic findings. Results. The prevalence of PID on the African continent has been estimated to be as high as 902 631 individuals. PID still is mostly underdiagnosed in Africa and although progress has been made in parts of the continent many challenges still remain regarding awareness, diagnosis, registration and care of these patients. Conclusion. Given the unique genetic mutations reported in PID patients on the African continent and the feasibility of hematopoietic stem cell transplantation and gene therapy, increased awareness should be encouraged and new therapeutic options considered.","language":"eng","number":"8b","journal":"South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde","author":[{"propositions":[],"lastnames":["Erjaee"],"firstnames":["A."],"suffixes":[]},{"propositions":[],"lastnames":["Bagherpour"],"firstnames":["M."],"suffixes":[]},{"propositions":[],"lastnames":["Van","Rooyen"],"firstnames":["C."],"suffixes":[]},{"propositions":["Van","den"],"lastnames":["Berg"],"firstnames":["S."],"suffixes":[]},{"propositions":[],"lastnames":["Kinnear"],"firstnames":["C.","J."],"suffixes":[]},{"propositions":[],"lastnames":["Green"],"firstnames":["R.","J."],"suffixes":[]},{"propositions":[],"lastnames":["Pepper"],"firstnames":["M."],"suffixes":[]}],"month":"September","year":"2019","pmid":"31662142","keywords":"Africa, Genetic Therapy, Hematopoietic Stem Cell Transplantation, Humans, Mutation, Prevalence, Primary Immunodeficiency Diseases","pages":"3–11","bibtex":"@article{erjaee_primary_2019,\n\ttitle = {Primary immunodeficiency in {Africa} - a review},\n\tvolume = {109},\n\tissn = {2078-5135},\n\tdoi = {10.7196/SAMJ.2019.v109i8b.13820},\n\tabstract = {BACKGROUND: Efforts have been made worldwide to improve awareness and treatment of primary immunodeficiency (PID). This has also gained momentum on the African continent albeit at a slower pace. Objective. This review reports on the current status of PID on the African continent regarding its prevalence, distribution, genetic mutations and challenges in diagnosis and treatment of affected patients. Method. We evaluated all studies published from the African continent in the field of PID dealing with prevalence, epidemiology, case reports and genetic findings. Results. The prevalence of PID on the African continent has been estimated to be as high as 902 631 individuals. PID still is mostly underdiagnosed in Africa and although progress has been made in parts of the continent many challenges still remain regarding awareness, diagnosis, registration and care of these patients. Conclusion. 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