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"Hyper-IgM" syndrome type 1
- ... with Hyper-IgM, type 1 Genetic Testing Registry: Hyper-IgM syndrome type 1 X-linked hyper-IgM syndrome National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- ... form of the condition called activated PI3K-delta syndrome type 1. People with activated PI3K-delta syndrome type 1 typically have recurrent bacterial infections of the respiratory ...
- ... gene and the PIK3R1 gene. Activated PI3K-delta syndrome type 1 is caused by variants in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110δ). Activated PI3K-delta syndrome type 2 is caused by variants in the ...