A HETEROZYGOUS BCL11B GENE VARIANT INDUCES SCID AND HYPO-IMMUNOGLOBULINEMIA IN A PAKISTANI FAMILY
DOI:
https://doi.org/10.69656/pjp.v21i1.1821Keywords:
DNA Sanger sequencing, BCL11b gene, Hypo-immunoglobulinemia,, Complete Blood Count, CBCAbstract
Background: The gene B-cell lymphoma/leukaemia 11B (BCL11B) which encodes the zinc finger transcription factor plays a crucial role in the development of the central nervous system and T cell differentiation by regulating the expression of numerous genes in early development. BCL11B gene defects lead to neurological and immunologic disease manifestations. Methods: In this study, we enrolled a 2-month-old male patient from a highly consanguine Pakistani family segregating autosomal dominant type of Primary Atopic Disorders (PADs) along with low immunoglobulin levels. Detailed clinical evaluations were performed by expert paediatrician. Whole blood samples were collected in EDTA tubes for genetic analysis. Detailed laboratory tests including complete blood count, and serum immunoglobulin levels, were performed. Results: Genetic analysis revealed four mutations in different genes. A heterozygous missense mutation [(c.2035C>T; p.Pro679Ser), ENST00000357195.8] in the gene BCL11B gene was found segregating (parents and healthy siblings were homozygous normal while patient was heterozygous) in the family. Flow cytometery and serum immunoglobulin estimation revealed Elevated Total Leukocyte Counts (TLC) and low serum immunoglobulins. Conclusion: The current study describes a novel heterozygous missense mutation in gene BCL11B. Clinical investigations revealed novel findings with novel clinical manifestations including short-term neurological seizures and recurrent pneumonia.
Pak J Physiol 2025;21(1):52–5, DOI: https://doi.org/10.69656/pjp.v21i1.1821
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Copyright (c) 2025 Maryam Shafaq, Muhammad Imran, Rahma Zahid Butt, Hira Pervez Kiyani, Sidra Ashfaq, Irfan Raza
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