Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F25%3A00082536" target="_blank" >RIV/00159816:_____/25:00082536 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/25:00142483

Result on the web

<a href="https://www.sciencedirect.com/science/article/abs/pii/S2213219825006063" target="_blank" >https://www.sciencedirect.com/science/article/abs/pii/S2213219825006063</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jaip.2025.06.025" target="_blank" >10.1016/j.jaip.2025.06.025</a>

Result language

angličtina

Original language name

Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older

Original language description

Background: X-linked agammaglobulinemia (XLA), caused by mutations in the Bruton tyrosine kinase (BTK) gene, leads to defective B-cell development and low or absent serum immunoglobulins. Advances in diagnosis and treatment have improved outcomes, allowing some patients to live beyond their sixth decade. Objective: To describe the clinical, genetic, treatment, and functional status of XLA patients aged 55 years or older. Methods: Immunologists provided anonymized, physician-reported clinical and molecular details of XLA patients aged 55 years or older. Patients were categorized as having missense mutations (BTK missense) or non-missense mutations (BTK non-missense). Results: Fifty-seven patients were submitted. Forty-eight were considered for final analysis, including 43 with molecularly confirmed XLA and 5 with a strong clinical history. Persistent respiratory infections were common: 64.6% (upper respiratory tract) and 83.3% (lower respiratory tract). Chronic lung disease (72.9%) and gastrointestinal/hepatic disorders (47.9%) were among the most prevalent complications. Most living patients (80.5%) reported good functional status (Karnofsky scores &gt; 80). Missense variants accounted for 62.8% (n = 27), non-missense variants for 37.2% (n = 16); 5 patients lacked classifiable mutation details. Among 34 patients with BTK expression data, 70.6% had detectable BTK protein, significantly more common in the missense group (83.3% vs 30%; P = .005). The non-missense group had higher mortality, more infections, greater antibiotic use, worse pulmonary function, and lower functional status. Conclusions: Chronic respiratory complications are common in older XLA patients, although most maintain good functional status. Genetic testing aids prognostication; BTK missense mutations are linked to better outcomes. Further research is needed to address the unique challenges of aging in XLA. © 2025 American Academy of Allergy, Asthma &amp; Immunology

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30102 - Immunology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2025

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Allergy and Clinical Immunology-In Practice

ISSN

2213-2198

e-ISSN

2213-2201

Volume of the periodical

13

Issue of the periodical within the volume

10

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

16

Pages from-to

2806-"2816.e6"

UT code for WoS article

001603135000029

EID of the result in the Scopus database

2-s2.0-105012181088