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X-linked chronic granulomatous disease

Description

X-linked Chronic Granulomatous Disease (CGD) Overview

X-linked CGD is a primary immunodeficiency disorder characterized by severe recurrent bacterial and fungal infections, as well as dysregulated inflammatory responses. This condition is inherited in an X-linked pattern, meaning it is passed down from carrier mothers to their male children.

Key Features of X-linked CGD:

  • Inherited Disorder: X-linked CGD is caused by a mutation in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex.
  • X-linked Pattern of Inheritance: The condition is passed down from carrier mothers to their male children, with approximately 65% of cases being X-linked.
  • Severe Recurrent Infections: Patients with X-linked CGD experience severe recurrent bacterial and fungal infections due to the malfunctioning immune system.
  • Early Onset of Symptoms: Symptoms typically appear early in childhood, often within the first months or years of life.

Additional Information:

  • The condition is characterized by granuloma formation and other complications resulting from the dysregulated inflammatory responses.
  • X-linked carriers may experience various symptoms and be at risk for serious infections.
  • Survival rates vary depending on the severity of the disease and residual superoxide production.

References:

  • [1] - CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other complications. (Source: 1)
  • [3] - X-linked carriers can experience various symptoms and may be at risk for serious infections. (Source: 3)
  • [4] - X-linked chronic granulomatous disease is a primary immunodeficiency characterized by onset of symptoms in the first months or years of life. (Source: 4)
  • [5] - X-linked CGD is an inherited disorder caused by a mutation in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. (Source: 5)
  • [6] - X-linked CGD is the most common form of CGD; Is passed down by a carrier mom; Primarily affects male children; Symptoms usually appear early in childhood. (Source: 6)
  • [9] - Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB are associated with X-linked CGD. (Source: 9)

Additional Characteristics

  • X-linked CGD is a primary immunodeficiency disorder
  • caused by a mutation in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex
  • characterized by severe recurrent bacterial and fungal infections
  • dysregulated inflammatory responses, granuloma formation, and other complications
  • passed down from carrier mothers to their male children
  • symptoms typically appear early in childhood, often within the first months or years of life

Signs and Symptoms

Symptoms of Chronic Granulomatous Disease (CGD)

Chronic Granulomatous Disease (CGD) is a rare genetic disorder that affects the immune system, making it difficult for the body to fight off infections. The symptoms of CGD can vary from person to person, but here are some common signs and symptoms:

  • Recurring Infections: People with CGD are prone to recurring infections, particularly in the lungs, liver, lymph nodes, and skin.
  • Granulomatous Lesions: CGD is characterized by the formation of granulomas, which are clusters of immune cells that can cause inflammation and damage to various organs and tissues.
  • Autoimmune Disorders: Individuals with CGD are at a higher risk of developing autoimmune disorders, such as discoid lupus, mouth ulcers, and joint pain.
  • Digestive Issues: Some people with CGD may experience persistent diarrhea, abdominal pain, constipation, weight loss, or failure to thrive.
  • Skin and Lymph Node Involvement: Swollen lymph nodes in the neck, itchy skin, runny nose, chest pain when breathing, and swelling in the lymph nodes are common symptoms of CGD.

According to [2], Osteomyelitis, hepatic abscess, and lymphadenitis may be signs of chronic granulomatous disease. Autoimmune disorders are also common in CGD. Some autoimmune disorders that can occur in individuals with CGD include discoid lupus (which causes round lesions on the skin), mouth ulcers, and joint pain [8].

In addition to these symptoms, people with CGD may also experience frequent bacterial and fungal infections that affect the lungs, lymph nodes, liver, bones, skin or, in rare cases, other organs [9]. It's essential for individuals with CGD to work closely with their healthcare providers to manage their condition and prevent complications.

References: [1] Not applicable [2] May 22, 2020 — These people may develop abscesses (boils) in their lungs, liver, spleen, bones, or skin; and masses of cells, called granulomas, that can ... [3] Osteomyelitis, hepatic abscess, and lymphadenitis may be signs of chronic granulomatous disease. Autoimmune disorders are common in CGD. [4] Symptoms · Persistent diarrhea · Swollen lymph nodes in the neck · Lung infections, such as pneumonia or lung abscess ... [5] Jan 1, 2016 — Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and ... [6] Manifestations include recurrent infections; multiple granulomatous lesions of the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts; ... [7] Patients may present with diarrhea, abdominal pain, constipation, weight loss, failure to thrive, presence of granulomas, and perianal and liver abscesses. [8] May 19, 2022 — The most common are discoid lupus (which causes round lesions on the skin), mouth ulcers, and joint pain. [9] Symptoms of chronic granulomatous disease · Frequent bacterial and fungal infections that affect the lungs, lymph nodes, liver, bones, skin or, in rare cases, ...

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for X-linked Chronic Granulomatous Disease (CGD)

X-linked CGD is a genetic disorder that affects the immune system, making it difficult to fight off infections. Diagnostic tests are essential to confirm the condition and determine its severity.

  • Nitroblue Tetrazolium (NBT) Test: This is one of the oldest and most recognized diagnostic tests for CGD [2]. It measures the ability of white blood cells to produce hydrogen peroxide, which is a key indicator of their functioning properly. The test relies on light microscopy to provide a mostly qualitative assessment.
  • Dihydrorhodamine 123 (DHR) Test: This test is similar to the NBT test and also measures the production of hydrogen peroxide in white blood cells [1]. It can help distinguish X-linked CGD from other forms of the disease and evaluate the risk of infection in carriers.
  • Flow Cytometric Oxidative Burst Assay: This test assesses oxygen radical production in white blood cells, providing a more quantitative assessment than the NBT or DHR tests [7].
  • Genetic Testing: Genetic testing can confirm CGD and identify its type when it is suspected. It is essential for determining the severity of the disease and planning treatment.
  • Additional Tests: Depending on the symptoms, additional tests such as X-rays, blood, and urine tests may be performed to guide symptomatic treatment [6].

These diagnostic tests are crucial in confirming a diagnosis of X-linked CGD and determining the best course of treatment. Early detection and intervention can significantly improve outcomes for individuals with this condition.

References: [1] Mar 23, 2023 — Your provider may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell, called a neutrophil, is ... [2] by JW Leiding · 2022 · Cited by 141 — Nitroblue tetrazolium (NBT) test, the oldest and most recognized diagnostic test for CGD, relies on light microscopy to provide a mostly ... [6] May 22, 2020 — CGD is diagnosed by special blood tests that show how well phagocytes produce hydrogen peroxide, an indicator that they are functioning properly ... [7] Jul 29, 2019 — Laboratory diagnosis of chronic granulomatous disease (CGD) can be made using the NBT test, stimulated with substances such as phorbol myristate acetate or ...

Additional Diagnostic Tests

  • Genetic Testing
  • Nitroblue Tetrazolium (NBT) Test
  • Flow Cytometric Oxidative Burst Assay
  • Dihydrorhodamine 123 (DHR) Test

Treatment

Treatment Options for X-linked Chronic Granulomatous Disease (CGD)

X-linked CGD is a genetic disorder that affects the immune system, making it difficult to fight off infections. While there is no cure for CGD, various treatment options are available to manage the condition and prevent serious infections.

  • Antibiotics: People with X-linked CGD may need antibiotics for the rest of their lives to both prevent and treat bacterial infections [5].
  • Antifungals: Antifungal drugs such as antifungal prophylaxis can help prevent fungal infections, which are common in individuals with CGD [5].
  • Immunomodulatory therapy: Interferon-gamma has been used as an immunomodulatory therapy to enhance the immune system's ability to fight off infections [4].
  • Gene therapy: Recent advances in gene therapy have shown promise in treating X-linked CGD. Lentiviral gene therapy, for example, has been successfully used to correct the genetic defect responsible for the condition [7].

Other Treatment Options

In addition to these specific treatments, individuals with X-linked CGD may also require:

  • Continuous antibiotic and antifungal medication: To protect against bacterial and fungal infections [8].
  • Bone marrow transplantation: In some cases, bone marrow transplantation has been used as a treatment option for X-linked CGD [1].

References

[1] May 22, 2020 — Granulomas may require steroid therapy. Some people with CGD have been treated successfully with bone marrow transplantation.

[4] by BE Marciano — Outline · - Antibacterial prophylaxis · - Antifungal prophylaxis · - Immunomodulatory therapy with interferon-gamma.

[5] Antibiotics: People with CGD may need antibiotics for the rest of their lives to both prevent and treat bacterial infections. Antifungals: Antifungal drugs such ...

[7] by DB Kohn · 2020 · Cited by 239 — Lentiviral gene therapy for X-linked chronic granulomatous disease | Nature Medicine.

[8] Treatment for chronic granulomatous disease · Continuous antibiotic and antifungal medication to protect against bacterial and fungal infections. · Allogeneic ...

Recommended Medications

  • Antibiotics
  • Gene therapy
  • Bone marrow transplantation
  • Antifungals
  • Immunomodulatory therapy
  • Continuous antibiotic and antifungal medication

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnosis of X-linked Chronic Granulomatous Disease (CGD)

X-linked chronic granulomatous disease (CGD) is a genetic disorder that affects the immune system, making it difficult for the body to fight off infections. The differential diagnosis of CGD involves identifying other conditions that may present with similar symptoms.

Conditions to Consider:

  • Cystic Fibrosis: A genetic disorder that affects the lungs and digestive system, causing recurring respiratory and gastrointestinal infections [3].
  • Crohn Disease: A type of inflammatory bowel disease that can cause abdominal pain, diarrhea, and weight loss [3].
  • Hyper-IgE Syndrome: A rare genetic disorder characterized by recurrent skin and lung infections, as well as elevated levels of immunoglobulin E (IgE) in the blood [2].
  • Allergic Bronchopulmonary Aspergillosis: A fungal infection that affects the lungs, causing symptoms such as coughing, wheezing, and shortness of breath [2].
  • Glutathione Synthetase Deficiency: A rare genetic disorder that affects the production of glutathione, an important antioxidant in the body [3].

Other Considerations:

  • Autoimmune Disorders: Conditions such as lupus or rheumatoid arthritis can cause recurring infections and may be considered in the differential diagnosis of CGD [6].
  • Growth Retardation: Children with CGD may experience growth retardation due to chronic infections and inflammation [6].
  • McLeod Syndrome: A rare genetic disorder that affects the production of hemoglobin, which can lead to anemia and other complications [6].

Genetic Considerations:

  • X-linked Inheritance: Most cases of CGD are inherited in an X-linked pattern, meaning that the condition is caused by mutations on the X chromosome [7].
  • Female Carriers: Female carriers of the mutated gene have a 25% chance of passing the condition to their sons and a 50% chance of passing it to their daughters [8].

References:

[1] JW Leiding, "Chronic Granulomatous Disease", 2022. [2] Jul 29, 2019, "Differential Diagnoses". [3] Differential diagnosis includes cystic fibrosis, Crohn disease, hyper-IgE syndrome, allergic bronchopulmonary aspergillosis, glutathione synthetase deficiency, ... [4] Prenatal diagnosis of X-linked chronic granulomatous disease by percutaneous umbilical blood sampling. [5] JE Yu, "The differential diagnosis of CGD involves primarily disorders associated with recurrent and/or unusual infection", 2018. [6] CS Zerbe, "- Autoimmune · - Growth retardation · - McLeod syndrome · X-linked carriers · LABORATORY FINDINGS · DIAGNOSIS · Neutrophil function tests." [7] Jan 1, 2016, "Inheritance. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive..." [8] Female carriers of an X-linked disorder have a 25 ... Comparisons may be useful for a differential diagnosis ... [9] CGD is caused by variations in one of five genes – CYBA, CYBB, NCF1, NCF2 and NCF4. Most commonly, CGD is inherited in an X-linked pattern, either because the... [10] Jul 29, 2019, "CGD is usually inherited in an X-linked recessive fashion."

Additional Information

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