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autosomal recessive chronic granulomatous disease 2
Description
Autosomal Recessive Chronic Granulomatous Disease 2 (CGD2) is a rare inherited disorder that affects the body's ability to fight off infections. It is caused by mutations in the NCF2 gene, which accounts for approximately 5% of patients with CGD [1].
In individuals with autosomal recessive CGD2, the phagocytes (a type of white blood cell) are unable to produce microbicidal oxidants, leading to severe recurrent infections. This condition is characterized by impaired killing of bacteria and fungi, resulting in granuloma formation and other inflammatory disorders such as colitis [2].
Autosomal recessive CGD often presents differently than X-linked CGD, which can lead to a delay in recognition and diagnosis. Serious infections in patients with autosomal recessive CGD may be less frequent, but it is still essential to consider evaluation for this condition in older patients exhibiting symptoms [3].
Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) is a form of chronic granulomatous disease that involves impaired phagocytes' ability to produce reactive oxygen species in response to pathogens. This condition carries a high risk for serious infection and mortality, with an autosomal recessive CGD diagnosis often being delayed due to milder disease symptoms [4].
References: [1] Patino et al., 1999 [2] Context result 2 [3] Context result 3 [4] Context result 6
Additional Characteristics
- Mutations in the NCF2 gene
- Impaired phagocytes' ability to produce microbicidal oxidants
- Granuloma formation and other inflammatory disorders such as colitis
- Delayed diagnosis due to milder disease symptoms
- High risk for serious infection and mortality
Signs and Symptoms
Common Signs and Symptoms
Chronic granulomatous disease (CGD) is characterized by severe recurrent bacterial and fungal infections, as well as dysregulated inflammatory responses [1]. The signs and symptoms of CGD can vary in severity and presentation, but common manifestations include:
- Recurrent Infections: Patients with CGD are prone to frequent bacterial and fungal infections that affect various parts of the body, including the lungs, lymph nodes, liver, bones, skin, or gastrointestinal tract [4].
- Multiple Granulomatous Lesions: The disease can cause multiple granulomatous lesions in the lungs, liver, lymph nodes, and other organs, leading to symptoms such as coughing, fever, abdominal pain, and weight loss [5].
- Gastrointestinal Symptoms: Some patients may experience gastrointestinal symptoms like diarrhea, abdominal pain, constipation, or malabsorption [6]. In rare cases, bloody diarrhea can occur.
- Skin Infections: Skin infections are a common sign of CGD, often presenting as abscesses, cellulitis, or suppurative lymphadenitis [9].
- Pneumonia and Lung Abscesses: Patients with CGD may develop pneumonia or lung abscesses due to the inability of their immune system to fight off infections.
- Autoimmune Disorders: Autoimmune disorders are common in CGD patients, which can lead to additional symptoms like osteomyelitis (bone infection), hepatic abscess (liver infection), and lymphadenitis (inflammation of the lymph nodes) [8].
It's essential to note that not all patients with CGD will exhibit these symptoms, and the severity of the disease can vary significantly from person to person.
Additional Symptoms
- Autoimmune Disorders
- Gastrointestinal Symptoms
- Recurrent Infections
- Multiple Granulomatous Lesions
- Skin Infections
- Pneumonia and Lung Abscesses
Diagnostic Tests
Diagnostic Tests for Autosomal Recessive Chronic Granulomatous Disease (CGD)
Autosomal recessive 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 identify the underlying genetic mutation.
- Nitroblue Tetrazolium (NBT) Test: This test measures the ability of white blood cells to produce oxygen radicals, which is impaired in individuals with CGD. The NBT test is a simple and quick way to screen for CGD, but it may not be definitive in some cases [1][3].
- Dihydrorhodamine (DHR) Test: This test is similar to the NBT test and measures the production of oxygen radicals by white blood cells. However, DHR results are not definitive in suggesting X-linked inheritance or autosomal recessive inheritance [1].
- Flow Cytometric Oxidative Burst Assay: This test assesses the ability of white blood cells to produce oxygen radicals and is considered a more accurate diagnostic tool for CGD than NBT or DHR tests [7].
In addition to these tests, genetic testing can confirm CGD and identify the underlying genetic mutation. A 8-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of chronic granulomatous disease [9].
Additional Diagnostic Tests
- Nitroblue Tetrazolium (NBT) Test
- Dihydrorhodamine (DHR) Test
- Flow Cytometric Oxidative Burst Assay
Treatment
Based on the provided context, here's an informative response:
Treatment Options for Autosomal Recessive Chronic Granulomatous Disease (CGD)
Autosomal recessive CGD is a rare genetic disorder characterized by impaired functioning of phagocytic cells, leading to recurrent and severe infections. The treatment options for this condition are focused on preventing and managing these infections.
- Antimicrobial Prophylaxis: Continuous antibiotic and antifungal medication is essential to protect against bacterial and fungal infections [7]. Trimethoprim/sulfamethoxazole (Bactrim, Bactrim DS, Cotrim) is often used as the antimicrobial drug of choice for prophylactic administration [4].
- Interferon-Gamma Therapy: Interferon-gamma injections have been shown to reduce the frequency and severity of serious infections associated with CGD [1]. This therapy can be an effective option for managing the condition
Recommended Medications
- Interferon-Gamma Therapy
- sulfamethoxazole (Bactrim, Bactrim DS, Cotrim)
💊 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
The differential diagnosis for autosomal recessive (AR) chronic granulomatous disease (CGD) involves disorders that can present with similar symptoms, such as recurrent or unusual infections. Some of the main differential diagnoses for AR-CGD include:
- Cystic fibrosis: This genetic disorder affects the lungs and digestive system, leading to recurring respiratory and gastrointestinal issues [1][3].
- Crohn disease: A type of inflammatory bowel disease that can cause chronic diarrhea, abdominal pain, and weight loss [2][4].
- Hyper-IgE syndrome: A rare genetic disorder characterized by recurrent skin and lung infections, as well as elevated IgE levels in the blood [5][6].
- Allergic bronchopulmonary aspergillosis: A condition where the lungs become inflamed due to an allergic reaction to a fungus called Aspergillus [7][8].
It's worth noting that AR-CGD can be associated with milder disease compared to other subtypes of CGD, but diagnosis may still be delayed due to its rarity and similarity in symptoms to other conditions [9].
Additional Differential Diagnoses
Additional Information
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- A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25.
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- autosomal recessive chronic granulomatous disease 2
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- deficiency of p67-PHOX
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