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A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 ( PIK3R1 ) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS)

2025-05-28

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Mutations in PIK3R1 , a regulatory subunit of Class I PI3K, are implicated in immune disorders and neurological conditions. We identified a novel heterozygous pathogenic frameshift mutation (c.1710dup) in PIK3R1 in a patient with common variable immunodeficiency who developed slowly progressive Amyotrophic Lateral Sclerosis. Induced pluripotent stem cells (iPSCs) and iPSC-derived motor neurons (iMNs) demonstrate...

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Literature Corpus work: 4784a330-d865-53dc-be0d-e9d1e126d7eb
DOI: 10.1101/2025.05.23.655625

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A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 ( <i>PIK3R1</i> ) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS)

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