# Investigation of a Novel Inborn Error of Immunity with B Cell Deficiency

> **NIH NIH R21** · WASHINGTON UNIVERSITY · 2024 · $233,250

## Abstract

Project Summary
Inborn errors of immunity (IEI) are genetic disorders of the immune system that can manifest with a wide variety
of presentations, including susceptibility to infection, lymphoproliferation, autoimmunity, and malignancy.
Investigating IEI is critical not only to develop targeted molecular therapies for patients, but also to enhance our
understanding of the human immune system. Indeed, fundamental advances of the human immune response
have stemmed from studying patients with IEI. The long-term goal of this research is to investigate genetic
mechanisms of novel IEI to enhance our understanding of the human immune system and improve patient care
through the application of targeted molecular therapies. Here we propose to investigate patients with an
autosomal dominant antibody deficiency and defect in memory B cells. These patients suffer from recurrent and
severe infections due to an inability to mount appropriate antibody responses. Our preliminary studies have
identified a defect in B cell maturation associated with increased proliferation. In Aim 1 of this application we will
test B cell signaling and in vitro maturation in an effort to pinpoint important pathways that are altered and
disease-causing. In Aim 2 of this application we focus on a genomic finding of a region of duplicated DNA with
overexpression of a gene that we hypothesize leads to the altered B cell phenotype. We will use genomic and
genome engineering approaches to better define this genetic change and determine whether it is responsible for
disease in these patients. Results from these studies have the potential to molecularly define a new IEI and
provide insight into novel genetic mechanisms of human disease.

## Key facts

- **NIH application ID:** 10785884
- **Project number:** 1R21AI180271-01
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** MEGAN Anne COOPER
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $233,250
- **Award type:** 1
- **Project period:** 2023-12-12 → 2025-10-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10785884

## Citation

> US National Institutes of Health, RePORTER application 10785884, Investigation of a Novel Inborn Error of Immunity with B Cell Deficiency (1R21AI180271-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10785884. Licensed CC0.

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