Case report
Autosomal Dominant Hyper-IgE (Job) Syndrome Presenting with Recurrent Pulmonary Infections and Empyema in a Child: A Case Report
SD04-SD06
Correspondence
Dr. Shashank Mishra,
Resident, Department of Paediatric Surgery, Army Hospital Research
and Referral, New Delhi-110010, India.
E-mail: shankpar@gmail.com
Hyper-IgE syndrome (HIES), also known as Job syndrome, is a rare primary immunodeficiency characterised by recurrent cutaneous and pulmonary infections, chronic eczematous dermatitis, and markedly elevated serum immunoglobulin E levels. The Autosomal Dominant (AD) form, resulting from mutations in the Signal Transducer and Activator of Transcription 3 (STAT3) gene, is the most frequently encountered variant and is associated with significant infectious morbidity, particularly involving the respiratory system. The present case report describes a three-year-old male child who presented with a 10-day history of cough, tachypnoea, and right upper abdominal pain. He had a history of recurrent bilateral pneumonia, eczema, oral candidiasis, and abscess formation. Radiological evaluation revealed a right sided pleural empyema with substantial loss of lung volume. Laboratory investigations showed a markedly elevated serum IgE level of 2872 IU/mL, and genetic testing confirmed a STAT3 mutation, establishing the diagnosis of AD-HIES. Despite initial conservative management, the patient developed organising empyema and subsequently underwent Video-Assisted Thoracoscopic Surgical (VATS) decortication. The postoperative course was uneventful, with significant clinical and radiological improvement. Long-term antimicrobial prophylaxis was initiated. Follow-up was advised; however, the patient did not return for follow-up due to relocation. The present case underscores the importance of considering HIES in children with recurrent pulmonary infections and severe pleural complications, and highlights the role of early diagnosis, genetic confirmation, and timely surgical intervention in improving clinical outcomes.