Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines.

ABSTRACT: Hyper IgE syndrome (HIES) encompasses a group of primary immunodeficiency diseases (PIDs) that is characterized by severe atopy, and recurrent infections and markedly elevated serum IgE levels. The majority of HIES cases suffer from autosomal dominant mutations in the signal transducer and activator of transcription 3 gene. A minority of cases display autosomal recessive inheritance, and one form is caused by mutations in the dedicator of cytokinesis 8 (DOCK8) gene. Here we describe the first recognized and diagnosed case of DOCK8 deficiency in the Philippines. A 14 year-old-girl was referred due to recalcitrant atopic dermatitis, recurrent sinopulmonary infections, with widespread warts on the face, trunk and extremities. She had no coarse facial features or retained

SUBMITTER: Villanueva JCMM 

PROVIDER: S-EPMC7673426 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature