Evidence map›Paper›PMID 38355773›Full record

ArticleMolecular biology reports2024

Mutational analysis in different genes underlying severe combined immunodeficiency in seven consanguineous Pakistani families.

Hajra Fayyaz, Atteaya Zaman, Sheeba Shabbir, Zara Khalid Khan, Nighat Haider, Ali Faisal Saleem, Wasim Ahamad, Imran Ullah

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Article in Molecular biology reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 0 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors at 5 institutions in 1 country.

Hajra FayyazDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan.
Atteaya ZamanDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan.
Sheeba ShabbirForensic Medicine & Toxicology, School of Health Sciences, National University of Sciences and Technology, Islamabad, Pakistan.
Zara Khalid KhanDepartment of Biochemistry, HBS Medical & Dental College, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Nighat HaiderDepartment of Pediatrics, Pakistan Institute of Medical Sciences Islamabad, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Ali Faisal SaleemDepartment of Paediatrics & Paediatrics Infections Disease, Agha Khan University Hospital, Karachi, Pakistan.
Wasim AhamadDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan.
Imran UllahDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan. imranullah@qau.edu.pk.
Quaid-i-Azam University · PKShaheed Zulfiqar Ali Bhutto Institute of Science and Technology · PKAga Khan University Hospital · PKNational University of Sciences and Technology · PKPakistan Institute of Medical Sciences · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSevere Combined Immunodeficiency (SCID) is an autosomal recessive inborn error of immunity (IEI) characterized by recurrent chest and gastrointestinal (GI) infections and in some cases associated with life-threatening disorders. METHODOLOGY AND

resultsThis current study aims to unwind the molecular etiology of SCID and also extended the patients' phenotype associated with identified particular variants. Herein, we present 06 disease-causing variants identified in 07 SCID-patients in three different SCID related genes. Whole Exome Sequencing (WES) followed by Sanger Sequencing was employed to explore genetic variations. The results included identification of two previously reported heterozygous variants in homozygous form for the first time in RAG1gene [(p.Arg410Gln);(p.Arg737His)], followed by a recurrent variant (p.Trp959*) in RAG1, a novel variant in IL2RG (p.Asp48Lfs*24), a recurrent variant in IL2RG (p.Gly271Glu) and a recurrent variant in DCLRE1C (p.Arg191*) gene.

conclusionTo conclude, the immune-profiling and WES revealed two novel, two as homozygous state for the first time, and two recurrent disease causing variants contributing valuably to our existing knowledge of SCID.

Indexed as

Severe Combined ImmunodeficiencyConsanguinityHomozygoteHumansMutationPakistanPedigreePhenotypePrimary immunodeficiencySanger sequencingSevere combined immunodeficiencyWhole Exome Sequencing

Identifiers

PMID38355773
OpenAlexW4391823962

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