Respiratory Microbiota and Immune Response in CVID

Boston University80 enrolled

Overview

Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency. Respiratory ailments are the most frequent complications of CVID, with chronic pulmonary disease developing in 30-60% and even more experiencing frequent acute respiratory infections. This project aims to establish cutting-edge approaches to study pulmonary biology in CVID and apply novel bioinformatics strategies to study complex interactions among microbes and host cells by direct sampling of the respiratory tract. The central hypothesis for this research is that antibody (Ab) deficiency in CVID alters respiratory microbiota and host interactions to drive pulmonary disease.

Study Type

OBSERVATIONAL

Enrollment

Conditions

CVID

Eligibility

Sex: ALLMin age: 18 YearsMax age: 80 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Patients with primary antibody deficiency diagnosed by their treating physician * Controls will not have a diagnosis of immunodeficiency of any sort * Male and female patients will be enrolled evenly Exclusion Criteria: * Patients who self identify as pregnant * Patients with asthma or chronic obstructive pulmonary disease (COPD) that are not well controlled clinically

Locations (1)

Boston Medical Center

Boston, Massachusetts, United States

Outcomes

Primary Outcomes

Feasibility of respiratory sample RNA sequencing (RNAseq) analysis

Quality control analysis of RNA samples collected from nasopharyngeal swabs for adequacy to perform RNA-seq analysis will be performed. This will be done using the Boston University (BU) Medical Campus RNA core facility bioanalyzer, which will assess for adequate RNA quality and quantity for RNA-seq

Time frame: 1 year

Analysis of saliva sampling

Saliva samples will be analyzed by enzyme-linked immunosorbent assay (ELISA) and multiplex analysis (Luminex) for levels of antibodies as well as cytokines and other inflammatory proteins.

Time frame: 2 years

Respiratory microbiota analysis by RNA-seq of nasopharyngeal samples

RNA-seq data derived from nasopharyngeal samples will undergo computational analysis to identify alterations of microbiota constituency.

Time frame: 2 years

Host gene expression analysis by RNA-seq of nasopharyngeal samples

RNA-seq data derived from nasopharyngeal samples will undergo computational analysis to identify alterations of host gene and pathway expression.

Time frame: 2 years

Secondary Outcomes

Altered respiratory microbiota due to primary antibody deficiency

RNA seq will be used to determine if primary antibody deficiency alters respiratory microbiota

Time frame: 2 years

Altered gene expression due to primary antibody deficiency

RNA seq will be used to determine if primary antibody deficiency alters host gene expression.

Time frame: 2 years

Respiratory Microbiota and Immune Response in CVID

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts