Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family
Abstract Objective: To perform clinical and genetic analysis in a patient suffering from lymphopenia (low B-lymphocyte, T-lymphocyte and healthy Natural Killer cells). Methodology: In the current research project we enrolled a female child from Rawalpindi district. Laboratory investig...
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| Format: | Article |
| Language: | English |
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Rawalpindi Medical University
2024-06-01
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| Series: | Journal of Rawalpindi Medical College |
| Online Access: | https://www.journalrmc.com/index.php/JRMC/article/view/2588 |
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| author | Shahida Awais Lubna Siddique Nida Shafi Sobia Humerah Summyah Niazi Wafa Omer |
| author_facet | Shahida Awais Lubna Siddique Nida Shafi Sobia Humerah Summyah Niazi Wafa Omer |
| author_sort | Shahida Awais |
| collection | DOAJ |
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Abstract
Objective:
To perform clinical and genetic analysis in a patient suffering from lymphopenia (low B-lymphocyte, T-lymphocyte and healthy Natural Killer cells).
Methodology:
In the current research project we enrolled a female child from Rawalpindi district. Laboratory investigations including lymphocyte subset analysis was performed using anti-antibodies (CD19, CD3, CD4, CD8 and CD16/56). Estimation of serum immunoglobulin’s were performed. DNA Sanger sequencing of RAG2 gene was performed to identify gene mutation.
Results:
Thorough clinical examination by team of expert physician revealed severe nappy rash, interstitial pneumonitis and intractable diarrhea leading to failure to thrive. Lymphopenia with CD3+CD8 cells (0.1%), CD19 cells (0.1%), CD19/CD56 cells (27%) and CD4/CD8 cells (0.0%) resulting in B-T-NK+ deficiency. Patient’s serum immunoglobulin’s showed low levels of IgG, IgA and IgM levels. Exons specific polymerase chain reaction (PCR) was performed using oligonucleotide primers and subsequently DNA Sanger sequenced which resulted into an missense variant in the gene RAG2.
Conclusion:
In human reactivation gene 1 and 2 encode proteins with endonuclease activity which are involved in V(D)J rearrangement to generate variety of different types of T- and B- cell receptors. Genetic analysis revealed a missense mutation in RAG2 genes in female SCID patient.
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| format | Article |
| id | doaj-art-af3df1f2914445839969e9cf5bbbae5d |
| institution | Kabale University |
| issn | 1683-3562 1683-3570 |
| language | English |
| publishDate | 2024-06-01 |
| publisher | Rawalpindi Medical University |
| record_format | Article |
| series | Journal of Rawalpindi Medical College |
| spelling | doaj-art-af3df1f2914445839969e9cf5bbbae5d2025-02-06T08:35:59ZengRawalpindi Medical UniversityJournal of Rawalpindi Medical College1683-35621683-35702024-06-0128210.37939/jrmc.v28i2.2588Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani FamilyShahida Awais0Lubna Siddique 1Nida Shafi2Sobia Humerah3Summyah Niazi4Wafa Omer5Fazaia Medical College, Air University Islamabad, PakistanRawal Institute of health sciences, Shaheed Zulfiqar Ali Bhutto Medical University Islamabad, PakistanM. Islam Medical College, GujranwalaAlnafees Medical College, Isra University, IslamabadQuetta Institute of Medical SciencesRawalpindi Medical University, Rawalpindi Abstract Objective: To perform clinical and genetic analysis in a patient suffering from lymphopenia (low B-lymphocyte, T-lymphocyte and healthy Natural Killer cells). Methodology: In the current research project we enrolled a female child from Rawalpindi district. Laboratory investigations including lymphocyte subset analysis was performed using anti-antibodies (CD19, CD3, CD4, CD8 and CD16/56). Estimation of serum immunoglobulin’s were performed. DNA Sanger sequencing of RAG2 gene was performed to identify gene mutation. Results: Thorough clinical examination by team of expert physician revealed severe nappy rash, interstitial pneumonitis and intractable diarrhea leading to failure to thrive. Lymphopenia with CD3+CD8 cells (0.1%), CD19 cells (0.1%), CD19/CD56 cells (27%) and CD4/CD8 cells (0.0%) resulting in B-T-NK+ deficiency. Patient’s serum immunoglobulin’s showed low levels of IgG, IgA and IgM levels. Exons specific polymerase chain reaction (PCR) was performed using oligonucleotide primers and subsequently DNA Sanger sequenced which resulted into an missense variant in the gene RAG2. Conclusion: In human reactivation gene 1 and 2 encode proteins with endonuclease activity which are involved in V(D)J rearrangement to generate variety of different types of T- and B- cell receptors. Genetic analysis revealed a missense mutation in RAG2 genes in female SCID patient. https://www.journalrmc.com/index.php/JRMC/article/view/2588 |
| spellingShingle | Shahida Awais Lubna Siddique Nida Shafi Sobia Humerah Summyah Niazi Wafa Omer Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family Journal of Rawalpindi Medical College |
| title | Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family |
| title_full | Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family |
| title_fullStr | Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family |
| title_full_unstemmed | Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family |
| title_short | Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family |
| title_sort | genetic analysis reveals a missense mutation in reactivation gene 2 causing severe combined immunodeficiency disease in a pakistani family |
| url | https://www.journalrmc.com/index.php/JRMC/article/view/2588 |
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