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Article

Identification and Functional Validation of Novel Pathogenic Variants in Primary Immunodeficiencies.

European journal of immunology - 1 Oct 2025

Vr Arvinden, Govindaraj Geeta Madathil, Iyer Aditya Ramdas, Paul Sangita, Edavazhippurath Athulya, Jain Abhinav, Gupta Pragya, Deshmukh Gauspasha Yusuf, Singh Shivani, Saravanakumar Vinodh, Bhardwaj Juhi, Sharma Srishti, Benny Tancia P, Saravanan Priya, Bhoyar Rahul C, Imran Mohamed, Senthivel Vigneshwar, Divakar Mohit Kumar, Vignesh Harie, Jolly Bani, Dalvi Aparna, Bargir Umair Ahmed, Madkaikar Manisha, Bk Binukumar, Sivasubbu Sridhar, Ramalingam Sivaprakash, Scaria Vinod

Abstract excerpt

Primary immunodeficiency diseases (PIDs) are inherited disorders caused by genetic defects affecting immune function, leading to recurrent infections, autoimmunity, and malignancies. Many PIDs remain genetically uncharacterized, largely due to rare variants with unclear pathogenicity, which complicates the process of establishing an accurate diagnosis. Next-generation sequencing (NGS) technology enables the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41116289
DOI: 10.1002/eji.70057

Genes

NCF2
FCHO1
STAT1
LRBA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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