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A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA

PURPOSE: To understand the natural history and clinical outcomes for patients with X-linked agammaglobulinemia (XLA) in the United States utilizing the United States Immunodeficiency Network (USIDNET) patient registry. METHODS: The USIDNET registry was queried for data from XLA patients collected fr...

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Autores principales: Hernandez-Trujillo, Vivian, Zhou, Chuan, Scalchunes, Christopher, Ochs, Hans D., Sullivan, Kathleen E., Cunningham-Rundles, Charlotte, Fuleihan, Ramsay L., Bonilla, Francisco A., Petrovic, Aleksandra, Rawlings, David J., de la Morena, M. Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354121/
https://www.ncbi.nlm.nih.gov/pubmed/37219739
http://dx.doi.org/10.1007/s10875-023-01502-x
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author Hernandez-Trujillo, Vivian
Zhou, Chuan
Scalchunes, Christopher
Ochs, Hans D.
Sullivan, Kathleen E.
Cunningham-Rundles, Charlotte
Fuleihan, Ramsay L.
Bonilla, Francisco A.
Petrovic, Aleksandra
Rawlings, David J.
de la Morena, M. Teresa
author_facet Hernandez-Trujillo, Vivian
Zhou, Chuan
Scalchunes, Christopher
Ochs, Hans D.
Sullivan, Kathleen E.
Cunningham-Rundles, Charlotte
Fuleihan, Ramsay L.
Bonilla, Francisco A.
Petrovic, Aleksandra
Rawlings, David J.
de la Morena, M. Teresa
author_sort Hernandez-Trujillo, Vivian
collection PubMed
description PURPOSE: To understand the natural history and clinical outcomes for patients with X-linked agammaglobulinemia (XLA) in the United States utilizing the United States Immunodeficiency Network (USIDNET) patient registry. METHODS: The USIDNET registry was queried for data from XLA patients collected from 1981 to 2019. Data fields included demographics, clinical features before and after diagnosis of XLA, family history, genetic mutation in Bruton’s tyrosine kinase (BTK), laboratory findings, treatment modalities, and mortality. RESULTS: Data compiled through the USIDNET registry on 240 patients were analyzed. Patient year of birth ranged from 1945 to 2017. Living status was available for 178 patients; 158/178 (88.8%) were alive. Race was reported for 204 patients as follows: White, 148 (72.5%); Black/African American, 23 (11.2%); Hispanic, 20 (9.8%); Asian or Pacific Islander, 6 (2.9%), and other or more than one race, 7 (3.4%). The median age at last entry, age at disease onset, age at diagnosis, and length of time with XLA diagnosis was 15 [range (r) = 1–52 years], 0.8 [r = birth–22.3 years], 2 [r = birth–29 years], and 10 [r = 1–56 years] years respectively. One hundred and forty-one patients (58.7%) were < 18 years of age. Two hundred and twenty-one (92%) patients were receiving IgG replacement (IgGR), 58 (24%) were on prophylactic antibiotics, and 19 (7.9%) were on immunomodulatory drugs. Eighty-six (35.9%) patients had undergone surgical procedures, two had undergone hematopoietic cell transplantation, and two required liver transplantation. The respiratory tract was the most affected organ system (51.2% of patients) followed by gastrointestinal (40%), neurological (35.4%), and musculoskeletal (28.3%). Infections were common both before and after diagnosis, despite IgGR therapy. Bacteremia/sepsis and meningitis were reported more frequently before XLA diagnosis while encephalitis was more commonly reported after diagnosis. Twenty patients had died (11.2%). The median age of death was 21 years (range = 3–56.7 years). Neurologic condition was the most common underlying co-morbidity for those XLA patients who died. CONCLUSIONS: Current therapies for XLA patients reduce early mortality, but patients continue to experience complications that impact organ function. With improved life expectancy, more efforts will be required to improve post-diagnosis organ dysfunction and quality of life. Neurologic manifestations are an important co-morbidity associated with mortality and not yet clearly fully understood. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10875-023-01502-x.
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spelling pubmed-103541212023-07-20 A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA Hernandez-Trujillo, Vivian Zhou, Chuan Scalchunes, Christopher Ochs, Hans D. Sullivan, Kathleen E. Cunningham-Rundles, Charlotte Fuleihan, Ramsay L. Bonilla, Francisco A. Petrovic, Aleksandra Rawlings, David J. de la Morena, M. Teresa J Clin Immunol Original Article PURPOSE: To understand the natural history and clinical outcomes for patients with X-linked agammaglobulinemia (XLA) in the United States utilizing the United States Immunodeficiency Network (USIDNET) patient registry. METHODS: The USIDNET registry was queried for data from XLA patients collected from 1981 to 2019. Data fields included demographics, clinical features before and after diagnosis of XLA, family history, genetic mutation in Bruton’s tyrosine kinase (BTK), laboratory findings, treatment modalities, and mortality. RESULTS: Data compiled through the USIDNET registry on 240 patients were analyzed. Patient year of birth ranged from 1945 to 2017. Living status was available for 178 patients; 158/178 (88.8%) were alive. Race was reported for 204 patients as follows: White, 148 (72.5%); Black/African American, 23 (11.2%); Hispanic, 20 (9.8%); Asian or Pacific Islander, 6 (2.9%), and other or more than one race, 7 (3.4%). The median age at last entry, age at disease onset, age at diagnosis, and length of time with XLA diagnosis was 15 [range (r) = 1–52 years], 0.8 [r = birth–22.3 years], 2 [r = birth–29 years], and 10 [r = 1–56 years] years respectively. One hundred and forty-one patients (58.7%) were < 18 years of age. Two hundred and twenty-one (92%) patients were receiving IgG replacement (IgGR), 58 (24%) were on prophylactic antibiotics, and 19 (7.9%) were on immunomodulatory drugs. Eighty-six (35.9%) patients had undergone surgical procedures, two had undergone hematopoietic cell transplantation, and two required liver transplantation. The respiratory tract was the most affected organ system (51.2% of patients) followed by gastrointestinal (40%), neurological (35.4%), and musculoskeletal (28.3%). Infections were common both before and after diagnosis, despite IgGR therapy. Bacteremia/sepsis and meningitis were reported more frequently before XLA diagnosis while encephalitis was more commonly reported after diagnosis. Twenty patients had died (11.2%). The median age of death was 21 years (range = 3–56.7 years). Neurologic condition was the most common underlying co-morbidity for those XLA patients who died. CONCLUSIONS: Current therapies for XLA patients reduce early mortality, but patients continue to experience complications that impact organ function. With improved life expectancy, more efforts will be required to improve post-diagnosis organ dysfunction and quality of life. Neurologic manifestations are an important co-morbidity associated with mortality and not yet clearly fully understood. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10875-023-01502-x. Springer US 2023-05-23 2023 /pmc/articles/PMC10354121/ /pubmed/37219739 http://dx.doi.org/10.1007/s10875-023-01502-x Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
Hernandez-Trujillo, Vivian
Zhou, Chuan
Scalchunes, Christopher
Ochs, Hans D.
Sullivan, Kathleen E.
Cunningham-Rundles, Charlotte
Fuleihan, Ramsay L.
Bonilla, Francisco A.
Petrovic, Aleksandra
Rawlings, David J.
de la Morena, M. Teresa
A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA
title A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA
title_full A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA
title_fullStr A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA
title_full_unstemmed A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA
title_short A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA
title_sort registry study of 240 patients with x-linked agammaglobulinemia living in the usa
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354121/
https://www.ncbi.nlm.nih.gov/pubmed/37219739
http://dx.doi.org/10.1007/s10875-023-01502-x
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