ORIGINAL RESEARCH article
Front. Med.
Sec. Hematology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1569810
This article is part of the Research TopicChallenges And Advances In Primary Antibody Deficiencies Diagnosis, Treatment And Follow-upView all 5 articles
TACI and BTK Gene Analysis in Predominantly Antibody Deficiency Disorders among the Primary Immunodeficiency Disorder Patients in Bangladesh.
Provisionally accepted
TRIPTY CHAKROBORTTY1*
Chandan Kumar Roy2
Mohammad Imnul Islam2Ismet Niger2Kamrul Laila2
Avizit Sarker3Nusrat Akhtar Juyee4Maidul Islam2Fahmida Hoque5Partho Protim Chakrobortty6S. M. Ali Ahmed2Abu Naser Ibne Sattar2- 1Jashore Medical College, Jashore, Bangladesh, Jashore, Bangladesh
- 2Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Dhaka, Bangladesh
- 3Dhaka Medical College and Hospital, Dhaka, Dhaka, Bangladesh
- 4Comilla Medical College, Comilla, Bangladesh
- 5Jamalpur Medical College, Jamalpur, Bangladesh, Jamalpur, Bangladesh
- 6Magura 250 bedded general hospital, Magura, Bangladesh
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Background: Common variable immune deficiency disorder (CVID) and X-linked agammaglobulinemia (XLA) are the most prevalent predominantly antibody deficiency disorders (PADs). Analysis of TACI/TNFRSF13B genes in CVID and BTK genes in XLA patients by Sanger sequencing can help to make specific diagnoses of these cases.The study aimed to find out the TACI and BTK gene mutations and their allelic variation with CVID and XLA patients. Methods: This cross-sectional study was conducted on the clinically suspected PADs patients who attended the Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU), Bangladesh, from September 2022 to August 2023. Serum immunoglobulin level, immunophenotyping by flow cytometry, and PCR were conducted in the Department of Microbiology and Immunology, BSMMU, and the genetic analysis of the TACI and BTK genes was done by Sanger sequencing in DNA Solutions Limited, Dhaka, Bangladesh. Sequencing results were validated by the NCBI GenBank.Results: Out of 35 clinically suspected PAD cases, 15 (42.86%) were diagnosed as PAD patients. Within this group, 7 (46.67%) were diagnosed with CVID, 7 (46.67%) with XLA, and 1 (6.66%) with agammaglobulinemia other than XLA. Analysis of the TACI gene revealed no pathogenic variants in the CVID patients. Upon analyzing exons 2 to 19 of the BTK gene, 7 pathogenic/likely pathogenic mutations were detected, consisting of 4 nonsense and 3 missense mutations. Among these, 3 were found to be novel mutations, including 2 missense and 1 nonsense mutation.Genetic analysis of the TACI gene in patients with CVID identified no pathogenic variants. The BTK gene displayed heterogeneous mutations, with nonsense mutations being the most prevalent. In this cohort, XLA patients presented three de novo point mutations.
Keywords: PIDDs, PAD, Btk, TACI/TNFRSF13B, Sanger sequencing
Received: 01 Mar 2025; Accepted: 26 Aug 2025.
Copyright: © 2025 CHAKROBORTTY, Roy, Islam, Niger, Laila, Sarker, Juyee, Islam, Hoque, Chakrobortty, Ahmed and Sattar. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: TRIPTY CHAKROBORTTY, Jashore Medical College, Jashore, Bangladesh, Jashore, Bangladesh
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