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Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families.

Immunogenetics - 1 Dec 2024

Fayyaz Hajra, Zaman Atteaya, Haider Nighat, Waris Rehmana, Hussain Muhammad, Raza Syed Irfan, Ahmad Wasim, Ullah Imran

Abstract excerpt

Inborn errors of immunity (IEI) are defined as genetic disorders affecting the immune system and resulting in diverse clinical signs and symptoms. Despite the lack of diagnosis and unavailability of IEI estimation in the Pakistani population, consanguinity is exacerbating its prevalence. The current study focuses on severe combined immunodeficiency (SCID) and leukocyte adhesion deficiency type 1 (LAD1). SCID is...

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PMID: 39287664
DOI: 10.1007/s00251-024-01353-9

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