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autosomal recessive chronic granulomatous disease 3
Description
Autosomal recessive chronic granulomatous disease 3 (CGD3) is a rare immunodeficiency disorder characterized by recurrent pyogenic infections and inflammation in the body.
- It affects some cells of the immune system, making it difficult for the body to fight off certain types of bacteria and fungi [4].
- The condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations [2].
- Individuals with CGD3 are at a high risk for serious infections and mortality due to their compromised immune system [3].
Autosomal recessive CGD3 is caused by gene mutations in the neutrophils of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, which is essential for the proper functioning of white blood cells [7]. This condition can lead to severe and recurrent infections, as well as the formation of granulomas, which are clusters of immune cells that attempt to fight off the infection.
It's worth noting that CGD3 is a rare condition, with an estimated birth prevalence between 1/100,000 and 1/200,000 worldwide [15].
Additional Characteristics
- Autosomal recessive chronic granulomatous disease 3 (CGD3) is a rare immunodeficiency disorder.
- Individuals with CGD3 are at a high risk for serious infections and mortality due to their compromised immune system.
- This condition can lead to severe and recurrent infections, as well as the formation of granulomas.
Signs and Symptoms
Common Signs and Symptoms of Autosomal Recessive Chronic Granulomatous Disease
Autosomal recessive chronic granulomatous disease (CGD) is a genetic disorder that affects the immune system, leading to severe recurrent bacterial and fungal infections. The signs and symptoms of CGD can vary in severity and may include:
- Frequent Infections: Patients with CGD are prone to frequent and severe infections, particularly those caused by bacteria such as Staphylococcus aureus and E. coli.
- Granulomatous Lesions: CGD is characterized by the formation of granulomas, which are clusters of immune cells that attempt to fight off infections. These lesions can occur in various parts of the body, including the lungs, liver, lymph nodes, and gastrointestinal tract.
- Pneumonia: Patients with CGD may develop a type of fungal pneumonia called mulch pneumonitis, which causes fever and respiratory symptoms [3].
- Abscesses: Abscesses are common in patients with CGD, particularly in the skin, lungs, liver, and lymph nodes.
- Diarrhea and Abdominal Pain: Up to 50% of patients present with diarrhea, abdominal pain, and failure to thrive [7].
- Skin Infections: Skin infections are a common manifestation of CGD, including cellulitis and suppurative lymphadenitis.
- Autoimmune Disorders: Patients with CGD may also experience autoimmune disorders, such as osteomyelitis, hepatic abscess, and lymphadenitis.
These symptoms can range from mild to severe and may require prompt medical attention. If you suspect that you or a loved one has CGD, it is essential to consult with a healthcare professional for proper diagnosis and treatment.
References: [1] by JW Leiding · 2022 · Cited by 141 [3] Jan 1, 2016 — Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and ... [7] Up to 50% of patients present with diarrhea, abdominal pain, and failure to thrive. Pneumonia, abscesses, cellulitis, adenitis and osteomyelitis are common. [9] Oct 11, 2024 — Signs and symptoms of chronic granulomatous disease · Skin infections · Pneumonia · Lung abscesses · Suppurative lymphadenitis · Diarrhea secondary ...
Additional Symptoms
- Autoimmune Disorders
- Abscesses
- Frequent Infections
- Skin Infections
- Granulomatous Lesions
- Diarrhea and Abdominal Pain
- obsolete pneumonia
Diagnostic Tests
Autosomal recessive chronic granulomatous disease (CGD) can be diagnosed using various diagnostic tests.
- Nitroblue tetrazolium (NBT) test: This is one of the two special blood tests used to diagnose CGD. The NBT test measures the activity of phagocytes in response to microorganisms, which helps doctors determine if a patient has CGD [7].
- Genetic testing: Genetic testing can confirm autosomal recessive CGD and identify the specific type of the disease when it is suspected. This test can also provide information on genetic counseling for patients and their families [2].
It's worth noting that these tests are typically used in conjunction with clinical evaluation by experts to diagnose CGD and possible complications.
References: [2] - Genetic testing can confirm CGD and identify CGD type when CGD is suspected. Patients and their families may also benefit from genetic counseling to better understand the condition. [7] - Diagnostic tests for CGD use one of two special blood tests, including the nitroblue tetrazolium (NBT) test.
Additional Diagnostic Tests
- Genetic testing
- Nitroblue tetrazolium (NBT) test
Treatment
Treatment Options for Autosomal Recessive Chronic Granulomatous Disease (CGD)
Autosomal recessive CGD is a genetic disorder characterized by the inability of phagocytic cells to kill certain bacteria and fungi. The treatment options for this condition have evolved over time, with a focus on preventing infections and managing symptoms.
Current Treatment Options
- Prophylactic Antibiotics: Long-term use of antibiotics, such as trimethoprim/sulfamethoxazole (Bactrim), to prevent bacterial infections [6].
- Antifungal Medications: Continuous use of antifungal drugs to prevent fungal infections [7].
- Interferon-Gamma Therapy: Injections of interferon-gamma-1b (ACTIMMUNE) to reduce the frequency and severity of serious infections associated with CGD [2, 4].
- Aggressive Management of Acute Infections: Early and aggressive treatment of infections with antibiotics and antifungal medications [3].
Other Therapeutic Options
- Hematopoietic Cell Transplantation: A procedure that replaces the bone marrow with healthy cells to treat CGD [5].
- Gene Therapy/Gene Repair: Experimental treatments that aim to correct the genetic defect causing CGD [5].
These treatment options are designed to prevent infections, manage symptoms, and improve quality of life for individuals with autosomal recessive CGD. However, each individual's treatment plan may vary depending on their specific needs and medical history.
References: [2] - ACTIMMUNE (Interferon gamma-1b) is indicated: For reducing the frequency and severity of serious infections associated with chronic granulomatous disease; For ... [3] - Therapeutic options for CGD include prophylactic antibiotics and antifungal medications, interferon-gamma injections, and aggressive management of acute ... [4] - Oct 11, 2024 — Antimicrobial prophylaxis, early and aggressive treatment of infections, and interferon-gamma are the cornerstones of current therapy for chronic granulomatous ... [5] - by BE Marciano — Outline · - Hematopoietic cell transplantation · - Gene therapy/gene repair. [6] - Oct 11, 2024 — Trimethoprim/sulfamethoxazole (Bactrim, Bactrim DS, Cotrim) ... Antimicrobial drug of choice administered prophylactically to prevent infections ... [7] - Antibiotics: People with CGD may need antibiotics for the rest of their lives to both prevent and treat bacterial infections. · Antifungals: Antifungal drugs ...
Recommended Medications
- Antifungal Medications
- Prophylactic Antibiotics
- Interferon-Gamma Therapy
- Aggressive Management of Acute Infections
- Gene Repair
- Hematopoietic Cell Transplantation
💊 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:
- Disorders associated with recurrent severe or atypical infection, granulomas and hyperinflammation [7]
- Cystic fibrosis [2]
- Crohn disease [2]
- Hyper-IgE syndrome [2]
- Allergic bronchopulmonary aspergillosis [2]
- Glutathione synthetase deficiency [2]
It's worth noting that the differential diagnosis for AR-CGD can be complex and may involve a combination of these disorders. A thorough medical evaluation, including genetic testing, is often necessary to confirm the diagnosis.
In some cases, diagnosis may also be delayed due to newer, potent antibiotics or other treatments being used [8]. However, among chronic granulomatous disease subtypes, the autosomal recessive (AR) forms may be associated with milder disease [9].
References: [2] - Cited in search result 2 [7] - Cited in search result 7 [8] - Cited in search result 8 [9] - Cited in search result 9
Additional Differential Diagnoses
- Disorders associated with recurrent severe or atypical infection, granulomas and hyperinflammation
- N syndrome
- disease
- glutathione synthetase deficiency
- allergic bronchopulmonary aspergillosis
- cystic fibrosis
Additional Information
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- A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12.
- rdf-schema#label
- autosomal recessive chronic granulomatous disease 3
- oboInOwl#hasExactSynonym
- chronic granulomatous disease due to NCF4 deficiency
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.