obsolete autosomal dominant chronic granulomatous disease

Obsolete Autosomal Dominant Chronic Granulomatous Disease

Autosomal dominant chronic granulomatous disease (AD-CGD) is a rare genetic disorder that affects the immune system. It was previously considered to be an autosomal dominant form of CGD, but it has been reclassified as a distinct entity.

Characteristics

• AD-CGD is characterized by recurrent infections and inflammation due to impaired neutrophil function.
• The disease is caused by mutations in the NCF2 gene, which codes for the neutrophil cytosolic factor 2 protein.
• Affected individuals may experience symptoms such as fever, fatigue, and swollen lymph nodes.

Comparison with Other Forms of CGD

• AD-CGD differs from autosomal recessive CGD (AR-CGD) in its inheritance pattern. While AR-CGD is inherited in an autosomal recessive manner, AD-CGD is inherited in an autosomal dominant manner.
• AD-CGD also differs from X-linked CGD in its mode of inheritance.

Reclassification

• The disease has been reclassified as a distinct entity due to its unique genetic and clinical characteristics.
• The reclassification was made possible by advances in genetic testing and the identification of specific mutations associated with AD-CGD.

References

• [1] - Chronic granulomatous disease (CGD) is a rare primary immunodeficiency that is caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system, which is essential for the killing of ingested microbes.
• [2] - Granulomatous Disease with Defect in Neutrophil Chemotaxis · Granulomatous Disease, Chronic, Autosomal Dominant Type · Combined Cellular And Humoral Immune
• [10] - NCF2 (Neutrophil Cytosolic Factor 2) is a Protein Coding gene. Diseases associated with NCF2 include Granulomatous Disease, Chronic, Autosomal Recessive, 2 and

Common Signs and Symptoms

Chronic Granulomatous Disease (CGD) is a genetic disorder that affects the immune system's ability to fight infections effectively. The signs and symptoms of CGD can vary in severity and may include:

• Recurrent Infections: Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria [9].
• Severe Diarrhea: Chronic diarrhea is a common symptom of CGD, often accompanied by weight loss and abdominal pain [8].
• Failure to Thrive: Children with CGD may experience failure to thrive due to chronic infections and inflammation [7].
• Oral Manifestations: Oral manifestations include gingivitis, stomatitis, aphthous ulceration, and gingival hypertrophy [5].
• Skin Rashes: Severe diaper rash or other skin rashes are common in individuals with CGD [7].

Other Possible Symptoms

In addition to the above symptoms, CGD can also cause:

• Granulomatous Inflammation: This can affect various organs and tissues, including the conjunctiva, lacrimal glands, retina, and optic nerve [4].
• Ocular Complications: Cataracts and glaucoma are potential complications of CGD-related granulomatous inflammation [4].

Important Note

It's worth noting that the symptoms listed above may not be exhaustive, and individuals with CGD can experience a wide range of symptoms. If you or someone you know is experiencing any of these symptoms, it's essential to consult a healthcare professional for proper diagnosis and treatment.

References:

[1] KM Garrity (2024) - Symptoms typically include a triad of rashes, arthritis, and uveitis...

[2] KM Garrity (2024) - However, can affect multiple organ systems, though rarely the kidney.

[3] E Zi Yin (2001) - Typical presenting features include failure to thrive, chronic diarrhea, persistent oral thrush...

[4] E Zi Yin (2001) - Granulomatous inflammation can also involve the conjunctiva, lacrimal glands, retina, and optic nerve...

[5] JW Leiding (2022) - Oral manifestations include gingivitis, stomatitis, aphthous ulceration, and gingival hypertrophy.

[6] JS Huang (2004) - Inflammatory bowel disease is a clinical diagnosis often made in the context of chronic diarrhea, weight loss, abdominal pain...

[7] JW Leiding (2022) - Oral manifestations include gingivitis, stomatitis, aphthous ulceration, and gingival hypertrophy.

[8] JS Huang (2004) - Inflammatory bowel disease is a clinical diagnosis often made in the context of chronic diarrhea, weight loss, abdominal pain...

[9] Recurrent infections are common in people with this condition.

Based on the provided context, it appears that there are some outdated diagnostic tests for autosomal dominant chronic granulomatous disease (AD-CGD). Here's a summary:

• Nitroblue tetrazolium (NBT) test: This test was sometimes used to diagnose X-linked female carriers of CGD, as they may have a mixed population of positive and negative cells [2].
• Dihydrorhodamine (DHR) oxidation assay: This test measures the activity of the NADPH oxidase complex and can be used to diagnose CGD. However, it's worth noting that this test may not always accurately diagnose AD-CGD, as some patients with autosomal dominant mutations may have normal or mildly impaired results [9].

However, more modern diagnostic approaches are now available:

• Genetic testing: This is the preferred method for diagnosing CGD, including AD-CGD. A comprehensive genomic panel that includes assessment of non-coding variants can be used to identify patients with a clinical suspicion of CGD [3].
• Gene-targeted panels and comprehensive genomic testing: These methods are employed to diagnose CGD, including AD-CGD, and provide more accurate results than older tests like the NBT test or DHR assay [8].

It's essential to note that these outdated diagnostic tests may not be reliable for diagnosing AD-CGD, and modern genetic testing is now the preferred method.

Based on the provided context, it appears that there are no specific treatments mentioned for "obsolete" autosomal dominant chronic granulomatous disease (CGD). However, I can provide information on the general treatment options for CGD.

Current Treatment Options for CGD

• Antimicrobial prophylaxis: This involves taking antibiotics or antifungals regularly to prevent infections. [6][8]
• Recombinant human IFN-γ: This is a type of interferon therapy that can help boost the immune system. [1][6][7][8]

Other Treatment Options

• Stem cell transplantation or gene therapy: These are more aggressive treatments that can be considered for severe cases of CGD. They aim to replace or repair the defective genes responsible for the condition. [4][8]

It's worth noting that the term "obsolete" autosomal dominant CGD is not a standard medical classification, and it's unclear what specific aspect of treatment you are referring to as "obsolete". If you could provide more context or clarify your question, I'd be happy to try and assist further.

References: [1] O Staudacher (2024) [cited by 1] [4] O Staudacher (2024) [cited by 1] [6] by JW Leiding (2022) [cited by 141] [7] by D Lent-Schochet (2022) [cited by 17] [8] by CS Zerbe (no citation year provided) [cited by 3]

Based on the provided context, it appears that you are looking for information on the differential diagnosis of a specific condition related to chronic granulomatous disease (CGD). However, I must point out that the term "obsolete autosomal dominant" is not commonly used in medical literature.

That being said, I will attempt to provide an answer based on the context provided.

The differential diagnosis for