D3.361 - Pulmonary Embolism in a Patient with Hyper IgE (Job) Syndrome Associated with Genetic Thrombophilia: A Rare Case

BACKGROUND

Hyper IgE (Job) syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin and pulmonary infections, pneumatoceles, skeletal abnormalities, and markedly elevated serum IgE levels. The autosomal dominant form associated with STAT3 mutations is the most common subtype. Chronic inflammation, recurrent infections, and immunoglobulin replacement therapy may predispose these patients to thromboembolic complications. Pulmonary embolism (PE) is a rarely reported but potentially life-threatening complication in HIES.

CASE PRESENTATION

A young male patient with a diagnosis of Hyper IgE (Job) syndrome was followed since childhood due to recurrent infections. From the neonatal period, he had recurrent pruritic pustular staphylococcal dermatitis, recurrent subcutaneous abscesses, pneumatoceles, lung abscesses, spontaneous bone fractures, and persistently elevated serum IgE levels (>2000 IU/mL). Genetic analysis revealed a STAT3 mutation. The patient had been receiving intravenous immunoglobulin (IVIG) therapy for 20 years and switched to subcutaneous immunoglobulin (SCIG) one year prior. Physical examination showed coarse facial features, a high-arched palate, and widespread skin lesions.

He presented to the emergency department with chest pain and palpitations. Transthoracic echocardiography revealed mildly elevated pulmonary artery pressure (sPAP: 27 mmHg), mild tricuspid regurgitation, and dilated right heart chambers. Lower extremity venous Doppler ultrasonography demonstrated acute deep vein thrombosis in the left leg. Pulmonary CT angiography revealed filling defects compatible with emboli in the right main pulmonary artery and bilateral lower lobe segmental arteries. Anticoagulation with rivaroxaban was initiated.

Thrombophilia screening revealed heterozygous mutations of Factor V Leiden (G1691A), Prothrombin G20210A, and MTHFR (C677T). Extended anticoagulant therapy was therefore recommended.

CONCLUSION

Pulmonary embolism is a rare but serious complication in patients with Hyper IgE syndrome. Genetic thrombophilia should be investigated in HIES patients who develop thromboembolic events. This case highlights the importance of recognizing the combined effect of primary immunodeficiency and inherited thrombophilia on thrombosis risk and underscores the need for long-term anticoagulation and multidisciplinary follow-up.