Human PI3Kγ Deficiency with Immunodeficiency and Tissue Immunopathology

Whole exome sequencing of a trio (parents and offspring) reveals PIK3CG mutations that result in loss of protein in the child with immunodeficiency and immunopathology.

• Type: Parent-Offspring Trios
• Archiver: The database of Genotypes and Phenotypes (dbGaP)