Chronic Granulomatous Disease (CGD)

Primary Immunodeficiencies (PIDs): What Are They?

January 2010

In certain cases, the PID can present as part of complex genetic syndrome where the immunological aberration is one feature in a constellation of other anomalies including skeletal and facial dysmorphisms. PIDs can be a challenge to diagnose because of the extreme clinical heterogeneity in presentation, which is related to the underlying complexity of the immune system and the specific immune component(s) that are affected.

There are over 120 distinct genetic defects that are associated with over 150 PIDs and this number continues to increase every year with new discoveries of genetic mutations that explain previously known clinical phenotypes. In this context, it may be appropriate to mention that immunology is one of the fastest growing disciplines of medicine with a complexity that is mind-boggling and where paradigm shifts occur almost on a daily basis.

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What Are PIDs?

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Jump to section:

• Introduction
• Primary Immunodeficiencies (PIDs): What Are They?
• Primary Immunodeficiencies (PIDs): What Are They?
• Relative Distribution of the PIDs
• Components and Kinetics of the Immune Response
• Mechanisms of Innate Immunity
• Defect in the Innate Immune System: Chronic Granulomatous Disease
• Molecular Pathogenesis
• Clinical Features
• Laboratory Diagnosis of Neutrophil Oxidative Burst
• Nitro Blue-Tetrazolium Test (NBT)
• Dihydrorhodamine (DHR) Flow Cytometric Assay for Diagnosis of CGD
• Neutrophil Oxidative Burst: Normal Individual
• X-linked CGD
• Symptomatic Female Carrier with CGD
• Autosomal Recessive CGD
• Autosomal Recessive CGD
• Laboratory Test Ordering Information
• Questions?