The Case of Baby Joe

By Kristen L.W. Walton

Abstract

This interrupted case study follows the declining health of an infant who suffers from recurrent infections and finally is diagnosed with severe combined immunodeficiency (SCID). The case was developed for use in an undergraduate upper-level immunology course to supplement discussion of B and T cell development and the generation of antibody diversity. It could also be modified for use in a genetics class, with emphasis on the molecular aspects of RAG-mediated recombination and inheritance patterns of the disease, or a pathophysiology class, with emphasis on the physiology underlying the symptoms.

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Date Posted

12/13/2005

Overview

Objectives

Assess the likelihood of genetic versus environmental causes of a medical condition in an infant.
Analyze a data set and use the analysis to predict the most likely stage(s) of immune cell development that are disrupted.
Determine how alterations in various immune cells could explain observed symptoms.
Explain the role of RAG enzymes in B cell and T cell development.
Predict possible treatment options for immunodeficiency caused by genetic mutations in RAG enzymes.

Keywords

Immunology; immune system; antibody diversity; B cell; T cell; T cell receptor; TCR; recombination activating gene enzyme; RAG; immunodeficiency; somatic recombination recessive allele; severe combined immunodeficiency; SCID; infection

Subject Headings

Biology (General)

Genetics / Heredity

Medicine (General)

EDUCATIONAL LEVEL

Undergraduate lower division, Undergraduate upper division

FORMAT

PDF

TOPICAL AREAS

N/A

LANGUAGE

English

TYPE/METHODS

Interrupted

Teaching Notes & Answer Key

Teaching Notes

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Answer Key

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