# Autosomal Recessive Hyper-IgE Syndrome in a Child With Beta Thalassemia Trait: A Case Report

**Authors:** Suresha Linganagouda, Renuka S Jadhav, Sarita Verma, Rasika S Bharaswadkar

PMC · DOI: 10.7759/cureus.61864 · Cureus · 2024-06-06

## TL;DR

A child with beta thalassemia trait was diagnosed with a rare immune disorder called autosomal recessive hyper-IgE syndrome, highlighting the complexity of managing overlapping genetic conditions.

## Contribution

This case report presents a rare co-occurrence of AR-HIES and beta thalassemia trait, emphasizing the need for comprehensive evaluation in such complex clinical scenarios.

## Key findings

- AR-HIES was diagnosed in a child with beta thalassemia trait, a rare combination.
- The case highlights the challenges in diagnosis and treatment when multiple genetic conditions coexist.
- Comprehensive evaluation is crucial for managing patients with overlapping clinical manifestations.

## Abstract

Autoimmune diseases are multifaceted disorders, and their coexistence with other conditions can present unique challenges in diagnosis and management. Here, we report a rare case of autosomal recessive hyper-IgE syndrome (AR-HIES) in a child with beta thalassemia trait. AR-HIES is a distinct immunodeficiency disorder characterized by severe eczema and recurrent bacterial and viral infections, particularly affecting the sinopulmonary system. This case highlights the importance of recognizing and managing the co-occurrence of rare genetic conditions, as it can impact treatment strategies and familial counseling. This unique case of AR-HIES in a child with beta thalassemia trait underscores the complexity of autoimmune disorders and the need for comprehensive evaluation in patients presenting with multiple clinical manifestations.

## Linked entities

- **Diseases:** beta thalassemia trait (MONDO:0044210), autosomal recessive hyper-IgE syndrome (MONDO:0009478), eczema (MONDO:0004980)

## Full-text entities

- **Diseases:** Autoimmune diseases (MESH:D001327), genetic conditions (MESH:D030342), bacterial and viral infections (MESH:D014777), immunodeficiency disorder (MESH:D000081207), eczema (MESH:D004485), Beta Thalassemia (MESH:D017086), AR-HIES (MESH:D007589)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

12 references — full list in the complete paper: https://tomesphere.com/paper/PMC11228417/full.md

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Source: https://tomesphere.com/paper/PMC11228417