Chronic Granulomatous Disease (CGD)

Primary Immunodeficiencies (PIDs): What Are They?

January 2010

PIDs or primary immunodeficiencies are, typically speaking, congenital, inherited disorder of immune function. They can also arise as de novo or sporadic mutations in genes that regulate the immune response or components of the immune system.

PIDs are very diverse in their clinical manifestations; however, a common theme is the presence of recurrent infections, which can be life-threatening. Recurrent infections are not the only complication of PIDs - there can be other manifestations of immune dysregulation, such as autoimmunity, and hematological anomalies including cytopenias and lympho-proliferative disorders.

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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?