Challenges in diagnosing and managing hyper-IgE syndrome in a resource-limited setting: a case report

Author:

Adhikari Pratik1,Regmi Rabin2,Yadav Pramodman Singh1,Kafle Sujan1

Affiliation:

1. B.P. Koirala Institute of Health Sciences, Dharan

2. Patan Academy of Health Sciences, Lalitpur, Nepal

Abstract

Introduction and importance: Hyper-IgE syndrome (HIES), also known as Job syndrome, is a rare immunodeficiency disorder characterized by elevated immunoglobulin E levels and recurrent infections. Diagnosing and managing HIES in resource-limited settings is challenging due to the lack of advanced diagnostic tools. This report highlights the necessity of clinical evaluation and basic laboratory investigations for diagnosing HIES. Case presentation: A 3-year-old male presented with fever, cough, and widespread pustular lesions. He had a history of recurrent respiratory infections and otitis media. Physical examination revealed characteristic facial features, skin findings, and laboratory investigations showed elevated immunoglobulin E levels (>3000 IU/ml) and leukocytosis. A clinical diagnosis of HIES was made, and the patient responded well to antibiotics, antihistamines, and topical steroids. Clinical discussion: HIES is caused by genetic mutations affecting immune function, primarily involving STAT3 and DOCK8 genes. Diagnosis in resource-limited settings relies on clinical features and basic investigations. Challenges include the unavailability of genetic testing. Management includes antibiotics and symptomatic relief adapted to available resources. Conclusion: Diagnosing and managing HIES in resource-limited settings requires adaptation of clinical approaches to available resources. This case underscores the importance of clinical vigilance and basic diagnostic tools in diagnosing rare immunodeficiencies.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Reference18 articles.

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4. Combined immunodeficiency associated with DOCK8 mutations;Zhang;N Engl J Med,2009

5. Clinical features and outcome of 18 patients with autosomal dominant hyper-IgE syndrome in Latin America: a case series and literature review;Al Khatib;Front Immunol,2021

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