PIK3R1-related immunodeficiency and SHORT syndrome

MONDO:1060136

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.

0 clinical trials for this condition and its sub-types, 0 tagged with PIK3R1-related immunodeficiency and SHORT syndrome itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Hereditary disease (18235)

Sub-types of PIK3R1-related immunodeficiency and SHORT syndrome

SHORT syndrome 0 trials
Immunodeficiency 36 with lymphoproliferation 0 trials

Including sub-types (0) Tagged with PIK3R1-related immunodeficiency and SHORT syndrome (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.