Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.

ABSTRACT:

Background

Hereditary actin-related protein 2/3 complex subunit 1B deficiency is characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy, asthma, skin vasculitis, colitis, arthritis, short stature, and lymphadenopathy.

Objective

We aimed to describe the clinical, laboratory, and genetic features of six patients from four Mexican families.

Methods

We performed exome sequencing in patients of four families with suspected actinopathy, collected their data from medical records, and reviewed the literature for reports of other patients with actin-related protein 2/3 complex subunit 1B deficiency.

Results

Six patients from four families were included. All had recurrent infections, mainly bacterial pneumonia, and cellulitis. A total

SUBMITTER: Vasquez-Echeverri E 

PROVIDER: S-EPMC10085853 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature