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Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency

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1.
Ayub S, Zainub A, Shafi N, Khan ZK, Siddique L, Raza SI. Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency . JRMC [Internet]. 2025 Jan. 1 [cited 2025 Feb. 9];28(4). Available from: https://www.journalrmc.com/index.php/JRMC/article/view/2663

Abstract

Objective: To perform clinical and genetic investigations in two patients suffering from Artemis deficiency with total deficiency of T-B- lymphocytes.

Methods: We enrolled a Pakistani family with one male patient suffering from Severe Combined Immune Deficiency (SCID). Immunological investigations including lymphocyte subset analysis, and serum immunoglobulin levels were performed. Genetic analysis was performed on patients and available parents. Polymerase Chain Reaction (PCR) based amplification and electrophoresis in patients, parents and control was performed.

Results: A detailed clinical investigation revealed mild fever, lower respiratory tract infections, watery diarrhoea, and oral moniliasis from the age of one month. Lymphocyte subset analysis showed T-/B- and NK+ type SCID. Genetic analysis revealed two exon deletions in the Artemis encoding gene (DCLRE1C, OMIM 602450).

Conclusion: This study reveals a novel mega deletion mutation in the gene DCLRE1C, (two exon deletions) confirmed through PCR-based electrophoresis. The mutation leads to Artemis deficiency T-/B-/NK+ type of SCID.

Keywords: CNV repeats, SCID, Artemis deficiency, Lymphocyte subset analysis, Immunoglobulins.

https://doi.org/10.37939/jrmc.v28i4.2663
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Copyright (c) 2024 Saddaf Ayub, Abeerah Zainab, Nida Shafi, Zara Khalid Khan, Lubna Siddique, Syed Irfan Raza