label: PIK3R1-related immunodeficiency and SHORT syndrome
label_lc: pik3r1-related immunodeficiency and short syndrome
description: A group of disorders caused by a variation in PIK3R1 gene that produces a structurally altered but present p85α protein, disrupting PI3K signaling and leading to features such as immune deficiency, autoimmunity, short stature, and distinct facial and skeletal features.