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

Award Number: R21AI180271
ORGANIZATION: NATIONAL INSTITUTE OF ALLERGY & INFECTIOUS DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 12/12/2023
PERIOD OF PERFORMANCE END DATE: 10/31/2025

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Investigation of a Novel Inborn Error of Immunity with B Cell Deficiency - 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.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2025 ( Subtotal = $188,544 )
2025	2025	WASHINGTON UNIVERSITY, THE	1 BROOKINGS DR	SAINT LOUIS	MO	63130	SAINT LOUIS	USA	Allergy and Infectious Diseases Research	000	2	1/8/2025	NON-COMPETING CONTINUATION	$188,544
														Subtotal = $188,544

Issue Date FY: 2024 ( Subtotal = $233,250 )
2024	2024	WASHINGTON UNIVERSITY, THE	ONE BROOKINGS DR	SAINT LOUIS	MO	63110	SAINT LOUIS CITY	USA	Allergy and Infectious Diseases Research	000	1	12/12/2023	NEW	$209,925
2024	2024	WASHINGTON UNIVERSITY, THE	ONE BROOKINGS DR	SAINT LOUIS	MO	63110	SAINT LOUIS CITY	USA	Allergy and Infectious Diseases Research	001	1	9/12/2024	NEW	$23,325
														Subtotal = $233,250

Grand Total All Awards = $421,794

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

Award Number: R21AI180271

ORGANIZATION: NATIONAL INSTITUTE OF ALLERGY & INFECTIOUS DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 12/12/2023

PERIOD OF PERFORMANCE END DATE: 10/31/2025

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