Looking Beyond Infections in Job Syndrome: Peripheral Calcium Pyrophosphate Deposition Disease in a Cohort of Patients with Job Syndrome

Sandra Ogbonnaya-Whittlesey¹, Ecem Sevim¹, Dale Kobrin¹, sarthak gupta², Paul DeMarco³ and Alexandra Freeman⁴, ¹NIH/NIAMS, Bethesda, MD, ²Lupus Clinical Trials Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Disease, Bethesda, MD, ⁴NIH/NIAID, Bethesda, MD

Meeting: ACR Convergence 2023

Keywords: CPPD, X-ray

Session Information

Date: Sunday, November 12, 2023

Title: (0229–0251) Metabolic & Crystal Arthropathies – Basic & Clinical Science Poster I

Session Type: Poster Session A

Session Time: 9:00AM-11:00AM

Background/Purpose: Job syndrome or hyperimmunoglobulin E syndrome is an immunodeficiency for which the clinical picture consists largely of frequent infectious complications of the lungs, sinuses, and skin, eczematous cutaneous eruptions, and elevated immunoglobulin E levels starting early in childhood. The condition has been found to occur due mutations most commonly in the STAT3 pathway. Most patients are identified in early child and the disease frequently leads to early fatality due to infectious complication. Patients with Job’s syndrome have been living longer due to earlier recognition and more readily accessible genetic testing as well as improved management of infectious complications. As these patients are living longer, new clinical manifestations in the aging Jobs’ syndrome patient have been identified including musculoskeletal manifestations such as early onset degenerative joint disease which has been attributed to joint hypermobility.

Methods: We performed a retrospective review of imaging from a cohort of 160 STAT3 HIES patients to determine the prevalence of imaging findings suggestive of calcium pyrophosphate deposition disease (CPPD). Of the 160 patients, we were able to identify 22 patients over the age of 16 years with appropriate hand radiographs and 26 with knee radiographs for review. The median age of patients with findings was 53 and mean age was 47.

Results: We identified radiologic evidence of CPPD including (including narrowing of the 2^nd and 3^rd metacarpophalangeal joints, chondrocalcinosis) in 6 out of 22 hand radiographs (27%). 26 knee radiographs were reviewed and identified 3 patients with chondrocalcinosis (11%).

Conclusion: As patients with STAT3 HIES are living longer, attention to non-infectious complications associated with this condition is warranted. CPPD may occur at an increased frequency in patients with STAT3 HIES and at a significantly younger age than in the general population. Additional clinical and radiographic monitoring of these patients would help characterize the frequency, age of onset, and severity of this manifestation.

Disclosures: S. Ogbonnaya-Whittlesey: None; E. Sevim: None; D. Kobrin: None; s. gupta: None; P. DeMarco: None; A. Freeman: None.

To cite this abstract in AMA style:

Ogbonnaya-Whittlesey S, Sevim E, Kobrin D, gupta s, DeMarco P, Freeman A. Looking Beyond Infections in Job Syndrome: Peripheral Calcium Pyrophosphate Deposition Disease in a Cohort of Patients with Job Syndrome [abstract]. Arthritis Rheumatol. 2023; 75 (suppl 9). https://acrabstracts.org/abstract/looking-beyond-infections-in-job-syndrome-peripheral-calcium-pyrophosphate-deposition-disease-in-a-cohort-of-patients-with-job-syndrome/. Accessed .

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