# A term infant with severe hypereosinophilia secondary to CMV infection and the STAT1 gene mutation: a case report: List of authors

**Authors:** Shaimaa Salah, Saleh Nouh Alshanbari, Hassan Musa Masmali

PMC · DOI: 10.1186/s12887-024-04846-4 · 2024-06-26

## TL;DR

A newborn with a rare immune condition and a genetic mutation showed severe high eosinophil levels, which improved with treatment.

## Contribution

This case highlights a rare combination of CMV infection and a STAT1 gene mutation causing severe hypereosinophilia in a neonate.

## Key findings

- A full-term neonate presented with severe hypereosinophilia and CMV antigenemia.
- A homozygous mutation in the STAT1 gene was identified as a contributing factor.
- Treatment with antiviral drugs and steroids led to rapid improvement in blood counts.

## Abstract

Hypereosinophilia is a rare presentation in all age groups, particularly when it is severe, persistent, and progressive. We describe the clinical characteristics and course of severe hypereosinophilia in a full-term Saudi female neonate. A febrile respiratory illness evolved with a progressive increase in peripheral blood leukocyte and eosinophil counts, reaching 44.9% of leukocytes and an absolute value of 57,000 cells/µl. Different etiological examinations (for viral, bacterial, immunodeficiency, hyper IgE syndrome, gene mutations) revealed extremely high CMV antigenemia and a homozygous mutation in the STAT1 gene. Anhelation was relieved by oxygen and anti-viral treatment. Steroids brought a dramatic response in peripheral blood counts within 24 h. After a 6-week course of antiviral and steroid treatment at home, she had an excellent general condition. Conclusion: Although a rare pathology, it is important to consider genetic disorders when there is an atypical immune response to viral infections.

## Linked entities

- **Genes:** STAT1 (signal transducer and activator of transcription 1) [NCBI Gene 6772]
- **Diseases:** CMV infection (MONDO:0005132)

## Full-text entities

- **Genes:** STAT1 (signal transducer and activator of transcription 1) [NCBI Gene 6772] {aka CANDF7, IMD31A, IMD31B, IMD31C, ISGF-3, STAT91}
- **Diseases:** hyper IgE syndrome (MESH:D007589), CMV antigenemia (MESH:D003586), febrile respiratory illness (MESH:D012131), immunodeficiency (MESH:D007153), genetic disorders (MESH:D030342), viral infections (MESH:D014777), Hypereosinophilia (MESH:D004802)

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC11200823/full.md

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Source: https://tomesphere.com/paper/PMC11200823