RT Journal Article
T1 X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.
A1 El-Sayed, Zeinab A
A1 Abramova, Irina
A1 Aldave, Juan Carlos
A1 Al-Herz, Waleed
A1 Bezrodnik, Liliana
A1 Boukari, Rachida
A1 Bousfiha, Ahmed Aziz
A1 Cancrini, Caterina
A1 Condino-Neto, Antonio
A1 Dbaibo, Ghassan
A1 Derfalvi, Beata
A1 Dogu, Figen
A1 Edgar, J David M
A1 Eley, Brian
A1 El-Owaidy, Rasha Hasan
A1 Espinosa-Padilla, Sara Elva
A1 Galal, Nermeen
A1 Haerynck, Filomeen
A1 Hanna-Wakim, Rima
A1 Hossny, Elham
A1 Ikinciogullari, Aydan
A1 Kamal, Ebtihal
A1 Kanegane, Hirokazu
A1 Kechout, Nadia
A1 Lau, Yu Lung
A1 Morio, Tomohiro
A1 Moschese, Viviana
A1 Neves, Joao Farela
A1 Ouederni, Monia
A1 Paganelli, Roberto
A1 Paris, Kenneth
A1 Pignata, Claudio
A1 Plebani, Alessandro
A1 Qamar, Farah Naz
A1 Qureshi, Sonia
A1 Radhakrishnan, Nita
A1 Rezaei, Nima
A1 Rosario, Nelson
A1 Routes, John
A1 Sanchez, Berta
A1 Sediva, Anna
A1 Seppanen, Mikko Rj
A1 Serrano, Edith Gonzalez
A1 Shcherbina, Anna
A1 Singh, Surjit
A1 Siniah, Sangeetha
A1 Spadaro, Guiseppe
A1 Tang, Mimi
A1 Vinet, Ana Maria
A1 Volokha, Alla
A1 Sullivan, Kathleen E
K1 Agammaglobulinemia
K1 Autoimmunity
K1 CLD, Chronic lung disease
K1 FH, Family history
K1 GI, Gastrointestinal
K1 Immunoglobulin
K1 Infection
K1 JIA, juvenile idiopathic arthritis
K1 Outcomes
K1 SCIG, Subcutaneous immunoglobulin
K1 Therapy
K1 VAPP, Vaccine associated paralytic poliomyelitis
K1 XLA
K1 XLA, X-linked agammaglobulinemia
AB 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. 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. 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. 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.
SN 1939-4551
YR 2019
FD 2019-03-22
LK http://hdl.handle.net/10668/13781
UL http://hdl.handle.net/10668/13781
LA en
DS RISalud
RD Apr 6, 2025