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.]]>
Inclusion criteria: Patients known to have or suspected of having an inherited disease of the immune system are eligible for enrollment. Because of the intensive time and labor required for research laboratory testing, patients are enrolled only if in the opinion of the investigator there is a high index of suspicion. Biological relatives of enrolled patients are eligible for enrollment. There are no restrictions as to age, sex, race, or disability. Exclusion criteria: The presence of an acquired immune abnormality, such as HIV, cytotoxic chemotherapy, or malignancy may be grounds for possible exclusion if the investigator feels the presence of such abnormalities could interfere with evaluation. Severely debilitated health status or poor venous access may also preclude acquisition of adequate specimens for analysis. Within the limits of maximal acceptable blood draw volumes and minimum requirement for key laboratory tests, the cutoff weight for infants permitted in this protocol is 3 kg and above.]]>