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X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world
ZA. El-Sayed, I. Abramova, JC. Aldave, W. Al-Herz, L. Bezrodnik, R. Boukari, AA. Bousfiha, C. Cancrini, A. Condino-Neto, G. Dbaibo, B. Derfalvi, F. Dogu, JDM. Edgar, B. Eley, RH. El-Owaidy, SE. Espinosa-Padilla, N. Galal, F. Haerynck, R....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
NLK
BioMedCentral Open Access
od 2008
Directory of Open Access Journals
od 2008
PubMed Central
od 2008
Europe PubMed Central
od 2008
Open Access Digital Library
od 2008-01-01
Open Access Digital Library
od 2008-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2008
- Publikační typ
- časopisecké články MeSH
Background: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications. This study was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to better understand regional needs, challenges and unique patient features. Methods: A survey instrument was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to collect both structured and semi-structured data on X-linked agammaglobulinemia. The survey was sent to 54 centers around the world chosen on the basis of World Allergy Organization participation and/or registration in the European Society for Immunodeficiencies. There were 40 centers that responded, comprising 32 countries. Results: This study reports on 783 patients from 40 centers around the world. Problems with diagnosis are highlighted by the reported delays in diagnosis>24 months in 34% of patients and the lack of genetic studies in 39% of centers Two infections exhibited regional variation. Vaccine-associated paralytic poliomyelitis was seen only in countries with live polio vaccination and two centers reported mycobacteria. High rates of morbidity were reported. Acute and chronic lung diseases accounted for 41% of the deaths. Unusual complications such as inflammatory bowel disease and large granular lymphocyte disease, among others were specifically enumerated, and while individually uncommon, they were collectively seen in 20.3% of patients. These data suggest that a broad range of both inflammatory, infectious, and autoimmune conditions can occur in patients. The breadth of complications and lack of data on management subsequently appeared as a significant challenge reported by centers. Survival above 20 years of age was lowest in Africa (22%) and reached above 70% in Australia, Europe and the Americas. Centers were asked to report their challenges and responses (n = 116) emphasized the difficulties in access to immunoglobulin products (16%) and reflected the ongoing need for education of both patients and referring physicians. Conclusions: This is the largest study of patients with X-linked agammaglobulinemia and emphasizes the continued morbidity and mortality of XLA despite progress in diagnosis and treatment. It presents a world view of the successes and challenges for patients and physicians alike. A pivotal finding is the need for education of physicians regarding typical symptoms suggesting a possible diagnosis of X-linked agammaglobulinemia and sharing of best practices for the less common complications.
Ankara University School of Medicine Department of Pediatric Immunology and Allergy Ankara Turkey
Dalhousie University IWK Health Centre Halifax Nova Scotia Canada
Department of Immunology Institut Pasteur d'Algérie Faculty of Medicine Algiers Algeria
Department of Medicine and Sciences of Aging University G d'Annunzio of Chieti Pescara Italy
Department of Pediatric and Child Health Aga Khan University Hospital Karachi Pakistan
Department of Pediatrics Faculty of Medicine Cairo University Egypt
Federal University of Parana Curitiba Brazil
Hospital HHA Universidad de la Frontera Temuco Chile
Immunology Unit Hospital de Niños Ricardo Gutiérrez and CIC CABA Buenos Aires Argentina
LSU Health Sciences Center New Orleans LA USA
Pediatric Allergy and Immunology Unit Children's Hospital Ain Shams University Cairo Egypt
Servicio de Inmunología Hospital Universitario Virgen del Rocío Seville Spain
The Immunodeficiencies Research Unit National Institute of Pediatrics Mexico City Mexico
The Royal Hospitals and Queen's University Belfast United Kingdom
Citace poskytuje Crossref.org
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- $a X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world / $c ZA. El-Sayed, I. Abramova, JC. Aldave, W. Al-Herz, L. Bezrodnik, R. Boukari, AA. Bousfiha, C. Cancrini, A. Condino-Neto, G. Dbaibo, B. Derfalvi, F. Dogu, JDM. Edgar, B. Eley, RH. El-Owaidy, SE. Espinosa-Padilla, N. Galal, F. Haerynck, R. Hanna-Wakim, E. Hossny, A. Ikinciogullari, E. Kamal, H. Kanegane, N. Kechout, YL. Lau, T. Morio, V. Moschese, JF. Neves, M. Ouederni, R. Paganelli, K. Paris, C. Pignata, A. Plebani, FN. Qamar, S. Qureshi, N. Radhakrishnan, N. Rezaei, N. Rosario, J. Routes, B. Sanchez, A. Sediva, MR. Seppanen, EG. Serrano, A. Shcherbina, S. Singh, S. Siniah, G. Spadaro, M. Tang, AM. Vinet, A. Volokha, KE. Sullivan,
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- $a Background: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications. This study was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to better understand regional needs, challenges and unique patient features. Methods: A survey instrument was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to collect both structured and semi-structured data on X-linked agammaglobulinemia. The survey was sent to 54 centers around the world chosen on the basis of World Allergy Organization participation and/or registration in the European Society for Immunodeficiencies. There were 40 centers that responded, comprising 32 countries. Results: This study reports on 783 patients from 40 centers around the world. Problems with diagnosis are highlighted by the reported delays in diagnosis>24 months in 34% of patients and the lack of genetic studies in 39% of centers Two infections exhibited regional variation. Vaccine-associated paralytic poliomyelitis was seen only in countries with live polio vaccination and two centers reported mycobacteria. High rates of morbidity were reported. Acute and chronic lung diseases accounted for 41% of the deaths. Unusual complications such as inflammatory bowel disease and large granular lymphocyte disease, among others were specifically enumerated, and while individually uncommon, they were collectively seen in 20.3% of patients. These data suggest that a broad range of both inflammatory, infectious, and autoimmune conditions can occur in patients. The breadth of complications and lack of data on management subsequently appeared as a significant challenge reported by centers. Survival above 20 years of age was lowest in Africa (22%) and reached above 70% in Australia, Europe and the Americas. Centers were asked to report their challenges and responses (n = 116) emphasized the difficulties in access to immunoglobulin products (16%) and reflected the ongoing need for education of both patients and referring physicians. Conclusions: This is the largest study of patients with X-linked agammaglobulinemia and emphasizes the continued morbidity and mortality of XLA despite progress in diagnosis and treatment. It presents a world view of the successes and challenges for patients and physicians alike. A pivotal finding is the need for education of physicians regarding typical symptoms suggesting a possible diagnosis of X-linked agammaglobulinemia and sharing of best practices for the less common complications.
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