# Deciphering the Mechanisms Underlying Neuroendocrine Cell Hyperplasia of Infancy

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA, SAN DIEGO · 2021 · $553,853

## Abstract

PROJECT SUMMARY
 Neuroendocrine Cell Hyperplasia of Infancy (NEHI) is a rare pediatric lung disease characterized by
chronic tachypnea, low blood oxygen saturation requiring supplemental oxygen, and often failure to thrive. A
defining pathological feature of NEHI is the observed increase of pulmonary neuroendocrine cells in lung
biopsies. However, it is unknown if this increase, or other genetic or environmental factors cause the disease.
Mimicking an NKX2.1 point mutation identified in NEHI patients, we engineered the first animal model of NEHI
in mice carrying this patient mutation. Our preliminary data indicate that this model recapitulates key features
of the disease. We will use this model as an entry point to address key clinical questions associated with NEHI
pathogenesis. As there is no particular therapy for NEHI beyond supportive care, our findings may inform
specific pharmacological therapy targeting the key NEHI disease causal factors.

## Key facts

- **NIH application ID:** 10147150
- **Project number:** 5R01HL146141-03
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN DIEGO
- **Principal Investigator:** Xin Sun
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $553,853
- **Award type:** 5
- **Project period:** 2019-04-01 → 2023-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10147150

## Citation

> US National Institutes of Health, RePORTER application 10147150, Deciphering the Mechanisms Underlying Neuroendocrine Cell Hyperplasia of Infancy (5R01HL146141-03). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10147150. Licensed CC0.

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