A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.

ABSTRACT:

Purpose

To characterize rheumatological manifestations of GATA2 deficiency.

Methods

Single-center, retrospective review of 157 patients with GATA2 deficiency. Disease course, laboratory results, and imaging findings were extracted. In-person rheumatological assessments were performed on selected, available patients. A literature search of four databases was conducted to identify additional cases.

Results

Rheumatological findings were identified in 28 patients, out of 157 cases reviewed (17.8%). Twenty-two of those patients (78.6%) reported symptom onset prior to or in conjunction with the molecular diagnosis of GATA2 deficiency. Notable rheumatological manifestations included: piezogenic pedal papules (PPP), joint hyperextensibility, early onset osteoarthritis, ankylo

SUBMITTER: Amarnani AA 

PROVIDER: S-EPMC7239896 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature