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Updated: Jul 21, 2025

Highly Efficient Transfection of Human THP-1 Macrophages by Nucleofection

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Clinical and cellular phenotypes resulting from a founder mutation in IL10RB.

Zhiming Mao¹, Michael J Betti², Miguel A Cedeno³

¹Department of Molecular Microbiology and Immunology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

Clinical and Experimental Immunology

|July 28, 2023

Summary

A novel mutation in IL10RB causes very early onset inflammatory bowel disease (VEOIBD). This genetic defect impacts T and B cell populations, offering insights into immune dysregulation in VEOIBD patients.

Keywords:

IL-10 founder mutation inflammatory bowel disease

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Mouse Naïve CD4+ T Cell Isolation and In vitro Differentiation into T Cell Subsets

Mouse Naïve CD4+ T Cell Isolation and In vitro Differentiation into T Cell Subsets

Published on: April 16, 2015

Area of Science:

Immunology
Genetics
Gastroenterology

Background:

Inborn errors of immunity (IEI) are rare genetic disorders affecting immune system development and function.
Immune dysregulation, autoimmunity, and autoinflammation are common in IEI.
Very early onset inflammatory bowel disease (VEOIBD) can be caused by monogenic immune dysregulation disorders.

Purpose of the Study:

To identify the genetic cause of VEOIBD in a patient.
To characterize the immunophenotype associated with the identified genetic defect.
To investigate the population genetics of the identified mutation.

Main Methods:

Whole exome sequencing to identify genetic mutations.
Cytometry by time-of-flight (CBTF) with a broad antibody panel to analyze immune cell populations.
Haplotype analysis to determine the founder status and age of the mutation.

Main Results:

A novel homozygous loss-of-function mutation in IL10RB was identified as the cause of VEOIBD.
Immunophenotyping revealed reduced frequencies of CD4 and CD8 T cells, with additional defects in T helper cells, innate-like T cells, and memory B cells.
The mutation was identified as a founder allele in an isolated indigenous population, with its age estimated through haplotype analysis.

Conclusions:

Monogenic mutations in IL10RB can cause VEOIBD.
The identified IL10RB mutation leads to significant defects in adaptive and innate immune cell populations.
The founder status of the mutation in an isolated population provides insights into its prevalence and evolutionary history.