autosomal recessive chronic granulomatous disease 4

Autosomal recessive chronic granulomatous disease 4 (CGD4) is a rare genetic disorder that affects the immune system's ability to fight infections.

Causes and Inheritance

CGD4 is caused by mutations in the CYBA gene, which encodes the p22-phox protein. This gene is located on chromosome 16q24. The condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. Individuals with this condition typically inherit one mutated copy from each parent.

Symptoms and Risks

Autosomal recessive CGD4 carries a high risk for serious infections and mortality. People with this condition are susceptible to chronic inflammation and frequent bacterial and fungal infections, which can be life-threatening if left untreated.

Diagnosis and Delayed Diagnosis

An autosomal recessive CGD4 diagnosis may be delayed due to milder disease symptoms compared to other forms of CGD. However, early detection and treatment are crucial for managing the condition effectively.

References:

• [3] A number sign (#) is used with this entry because of evidence that autosomal recessive chronic granulomatous disease-4 (CGD4) is caused by homozygous or compound heterozygous mutation in the CYBA gene (), which encodes the p22-phox protein, on chromosome 16q24.
• [4] Autosomal recessive CGD carries a high risk for serious infection* and mortality. An autosomal recessive CGD diagnosis may be delayed because of milder disease ...

Based on the provided context, here are the signs and symptoms of autosomal recessive chronic granulomatous disease:

• Frequent bacterial and fungal infections that affect the lungs, lymph nodes, liver, bones, skin or, in rare cases, other organs [4].
• Manifestations include recurrent infections; multiple granulomatous lesions of the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts; and failure to thrive [5].
• Common symptoms include pneumonia, abscesses, cellulitis, adenitis, osteomyelitis, diarrhea, abdominal pain, and weight loss [6].
• Osteomyelitis, hepatic abscess, and lymphadenitis may be signs of chronic granulomatous disease [7].
• Autoimmune disorders are common in CGD, with symptoms such as skin infections, pneumonia, lung abscesses, suppurative lymphadenitis, and diarrhea secondary to gastrointestinal involvement [8].

It's worth noting that these symptoms can vary in severity and presentation from person to person.

Diagnostic Tests for Autosomal Recessive Chronic Granulomatous Disease (CGD)

Autosomal recessive CGD is a form of the disorder that affects individuals who inherit two defective genes, one from each parent. Diagnosing autosomal recessive CGD can be challenging, but several diagnostic tests are available to confirm the condition.

• Genetic Testing: Genetic testing can confirm autosomal recessive CGD and identify the specific genetic mutation responsible for the condition. This test involves analyzing DNA samples from an individual's blood or other tissues.
• Blood Tests: Blood tests, such as the Dihydrorhodamine 123 (DHR) test, can also be used to diagnose autosomal recessive CGD. These tests measure the activity of phagocytes in response to microorganisms.

It is essential to note that genetic testing and blood tests are typically performed on individuals who have a family history of CGD or exhibit symptoms suggestive of the condition.

References:

• [4] Family testing for chronic granulomatous disease (CGD)​​ Genetic testing can confirm CGD and identify CGD type when CGD is suspected. Patients and their families ...
• [9] of autosomal recessive forms of CGD. Is there a diagnostic test? Diagnostic tests for CGD use one of two special blood tests. These are the nitroblue ...

Treatment Options for Autosomal Recessive Chronic Granulomatous Disease (CGD)

Autosomal recessive CGD is a rare genetic disorder that affects the immune system, making it difficult to fight off certain infections. While there is no cure for CGD, various treatment options can help manage the condition and prevent complications.

• Antimicrobial Prophylaxis: Regular use of antibiotics and antifungal medications can help prevent infections in individuals with autosomal recessive CGD [6][8].
• Interferon-Gamma Therapy: This therapy has been shown to be effective in reducing the frequency and severity of fungal infections in CGD patients [4].
• Aggressive Management of Acute Infections: Early and aggressive treatment of infections is crucial to prevent complications and improve outcomes [7].

It's essential to note that each individual with autosomal recessive CGD may require a personalized treatment plan, taking into account their specific needs and medical history.

References: [4] by JW Leiding · 2022 · Cited by 141 — The use of azole antifungal drugs has markedly reduced the frequency and severity of fungal infections in CGD. [6] Oct 11, 2024 — Trimethoprim/sulfamethoxazole (Bactrim, Bactrim DS, Cotrim) ... Antimicrobial drug of choice administered prophylactically to prevent infections ... [7] Oct 11, 2024 — Antimicrobial prophylaxis, early and aggressive treatment of infections, and interferon-gamma are the cornerstones of current therapy for chronic granulomatous disease. [8] by D Lent-Schochet · 2022 · Cited by 17 — Globally, therapy involves trimethoprim-sulfamethoxazole and itraconazole. Some countries also add interferon-gamma therapy.

Differential Diagnosis of Autosomal Recessive Chronic Granulomatous Disease

Autosomal recessive chronic granulomatous disease (CGD) is a genetic disorder that affects the immune system's ability to fight off certain infections. The differential diagnosis for autosomal recessive CGD involves identifying disorders associated with recurrent and/or unusual infections, granulomas, and hyperinflammation.

Key Disorders to Consider:

• Cystic fibrosis
• Crohn disease
• Hyper-IgE syndrome
• Allergic bronchopulmonary aspergillosis
• Glutathione synthetase deficiency

These disorders can present with similar symptoms to autosomal recessive CGD, such as recurrent infections and granuloma formation. A thorough medical history, physical examination, and laboratory tests are essential to differentiate these conditions.

Additional Considerations:

• The median age at diagnosis for autosomal recessive CGD is typically 2.5-3 years of age.
• Milder cases of the disease may be diagnosed in later childhood or adulthood due to improved recognition and delayed diagnosis in some patients.

It's essential to note that a definitive diagnosis of autosomal recessive CGD can only be made through genetic testing, which confirms the presence of mutations in the NCF1 gene. [3][8]

References:

[3] Yu JE. Differential Diagnosis of CGD. 2018. [8] O'Donovan CJ. Chronic Granulomatous Disease: A Review of the Literature. 2024.

Note: The information provided is based on the search results and may not be an exhaustive list of differential diagnoses for autosomal recessive chronic granulomatous disease.