Related Experiment Video

Updated: Aug 17, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

The dermatosis of chronic granulomatous disease

M M Chowdhury1, A Anstey, C N Matthews

  • 1Department of Dermatology, Royal Gwent Hospital, Newport, UK.

Clinical and Experimental Dermatology
|June 9, 2000
PubMed

Insights

This study reports a family with X-linked chronic granulomatous disease (CGD). Affected males had impaired leukocyte oxidative burst, while female carriers experienced chronic inflammatory skin conditions.

Area of Science:

  • Immunology
  • Genetics
  • Dermatology

Background:

  • Chronic Granulomatous Disease (CGD) is a primary immunodeficiency disorder.
  • X-linked CGD is characterized by mutations in the CYBB gene, affecting the cytochrome b component of NADPH oxidase.
  • The NADPH oxidase complex is crucial for the oxidative burst in phagocytes.

Observation:

  • A three-generation family with X-linked cytochrome-negative CGD is presented.
  • Affected males exhibited marked impairment in polymorphonuclear leucocyte oxidative burst activity.
  • Female carriers presented with chronic inflammatory skin disorders, specifically slowly fluctuating erythematous plaques.

Findings:

  • Confirmed diagnosis of CGD in male patients through impaired oxidative burst and absence of cytochrome b subunits.
  • Identified a correlation between female carrier status and chronic inflammatory dermatosis.
  • Detailed clinical and laboratory findings in affected males and carrier females.

Implications:

  • Highlights the clinical spectrum of X-linked CGD, including manifestations in female carriers.
  • Emphasizes the importance of genetic and functional testing for CGD diagnosis.
  • Contributes to understanding the dermatological manifestations associated with CGD and its carrier state.

More Related Videos

Granulocyte-dependent Autoantibody-induced Skin Blistering12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

Deep Dermal Injection As a Model of Candida albicans Skin Infection for Histological Analyses10:45

Deep Dermal Injection As a Model of Candida albicans Skin Infection for Histological Analyses

Published on: June 13, 2018

Related Concept Videos

Skin Diseases and Disorders01:23

Skin Diseases and Disorders

Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Pulmonary Tuberculosis II01:28

Pulmonary Tuberculosis II

Tuberculosis, or TB, is a bacterial infectious disease caused by Mycobacterium tuberculosis. While its primary impact is on the lungs, leading to pulmonary tuberculosis, it can also affect various other organs, a condition referred to as extrapulmonary tuberculosis.
Here is a detailed explanation of its pathophysiology:
Transmission: The process begins when a person inhales droplet nuclei containing M. tuberculosis. These are typically released into the air when an individual with pulmonary or...
Inflammatory Bowel Disease II: Crohn's Disease01:30

Inflammatory Bowel Disease II: Crohn's Disease

Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by transmural...
Hypersensitivity Reactions: Delayed Hypersensitivity Reactions01:29

Hypersensitivity Reactions: Delayed Hypersensitivity Reactions

Delayed-Type Hypersensitivity (DTH), or Type IV hypersensitivity, is a cell-mediated immune response. It occurs when T cells, rather than antibodies, mediate a reaction to specific antigens. It is characterized by a delayed onset (1-2 days) and involves the recruitment of macrophages to the inflammation site.The initiation of a DTH response begins with the sensitization of T cells. During this phase, which lasts at least 1-2 weeks, antigen-specific T cells are activated, clonally expanded, and...
Chronic Inflammation: Introduction01:12

Chronic Inflammation: Introduction

Chronic inflammation is a prolonged, dysregulated immune response that persists for weeks to years when the inciting stimulus is difficult to eradicate or when self‑antigens drive ongoing reactivity. Morphologically, it is defined by mononuclear cell infiltration, progressive tissue destruction, and concurrent attempts at healing via angiogenesis and fibrosis. Compared with acute inflammation, edema is less prominent while cellular infiltration predominates; triggers include persistent...
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...