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  • A deficiency caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is associated with autosomal recessive agammaglobulinemia 7, immunodeficiency 36 and SHORT (short stature, hyperextensibility of joints or hernia, ocular depression, Rieger anomaly, teething delay) syndrome.
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