Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.

ABSTRACT:

Importance

PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is a newly characterized immunodeficiency syndrome associated with distinct cutaneous features. Awareness of the cutaneous skin findings associated with PLAID may facilitate diagnosis and improve patient care.

Objectives

To characterize the cutaneous manifestations of PLAID and identify potential cellular mechanisms of the disease.

Design, setting, and participants

In this retrospective analysis of patients with PLAID and PLAID-like disease evaluated at the National Institutes of Health from January 1, 2005, through December 31, 2014, patients with deletions in PLCG2 leading to PLAID and patients with PLAID-like disease for whom a PLAID mutation was not identified were studied.

Main ou

SUBMITTER: Aderibigbe OM 

PROVIDER: S-EPMC5664155 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature