Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency
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 investigation...
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| Format: | Article |
| Language: | English |
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Rawalpindi Medical University
2025-01-01
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| Series: | Journal of Rawalpindi Medical College |
| Online Access: | https://www.journalrmc.com/index.php/JRMC/article/view/2663 |
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| author | Saddaf Ayub Abeerah Zainub Nida Shafi Zara Khalid Khan Lubna Siddique Syed Irfan Raza |
| author_facet | Saddaf Ayub Abeerah Zainub Nida Shafi Zara Khalid Khan Lubna Siddique Syed Irfan Raza |
| author_sort | Saddaf Ayub |
| collection | DOAJ |
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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.
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| format | Article |
| id | doaj-art-bb2a9574a8944f338da023e4657b9037 |
| institution | Kabale University |
| issn | 1683-3562 1683-3570 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Rawalpindi Medical University |
| record_format | Article |
| series | Journal of Rawalpindi Medical College |
| spelling | doaj-art-bb2a9574a8944f338da023e4657b90372025-02-06T08:34:01ZengRawalpindi Medical UniversityJournal of Rawalpindi Medical College1683-35621683-35702025-01-0128410.37939/jrmc.v28i4.2663Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency Saddaf Ayub0Abeerah Zainub1Nida Shafi2Zara Khalid Khan3Lubna Siddique4Syed Irfan Raza5Islamic International Medical CollegeIslamic International Medical CollegeM. Islam Medical College,HBS Medical College, IslamabadRawal Institute of health sciencesHBS Medical College, Islamabad 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://www.journalrmc.com/index.php/JRMC/article/view/2663 |
| spellingShingle | Saddaf Ayub Abeerah Zainub Nida Shafi Zara Khalid Khan Lubna Siddique Syed Irfan Raza Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency Journal of Rawalpindi Medical College |
| title | Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency |
| title_full | Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency |
| title_fullStr | Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency |
| title_full_unstemmed | Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency |
| title_short | Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency |
| title_sort | genetic study in a pakistani family reveals autosomal recessive type of artemis deficiency |
| url | https://www.journalrmc.com/index.php/JRMC/article/view/2663 |
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