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type II complement component 8 deficiency

ICD-10 Codes

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Description

Type II Complement Component 8 Deficiency

Type II complement component 8 (C8) deficiency is a rare primary immunodeficiency disorder that affects the immune system's ability to fight off infections.

  • Characteristics: Patients with Type II C8 deficiency experience recurrent neisserial infections, particularly meningococcus infections of rare serotypes [5]. This increased susceptibility to infections is due to the malfunctioning of the complement system, which plays a crucial role in eliminating pathogens from the body.
  • Clinical Features: The clinical features of Type II C8 deficiency include recurrent infections with Neisseria species, such as meningitis and septicemia. These infections can be severe and life-threatening if left untreated [2].
  • Genetic Cause: The disorder is caused by a mutation in the C8B gene, which codes for the beta subunit of complement protein 8 [6]. This genetic defect leads to a deficiency of functional C8 protein, resulting in impaired immune function.
  • Prevalence: Type II C8 deficiency is an extremely rare condition, with only a few reported cases worldwide [7].

Overall, Type II complement component 8 deficiency is a serious immunodeficiency disorder that requires prompt medical attention and treatment to prevent severe infections.

References

[1] Not applicable (this information was not provided in the context)

[2] Context result 5

[3] Not applicable (this information was not provided in the context)

[4] Not applicable (this information was not provided in the context)

[5] Context result 5

[6] Context result 8

[7] Context result 7

Additional Characteristics

  • Type II complement component 8 deficiency
  • repeated infections with Neisseria species, such as meningitis and septicemia
  • malfunctioning of the complement system
  • mutation in the C8B gene
  • deficiency of functional C8 protein

Signs and Symptoms

Clinical Signs and Symptoms of Type II Complement Component 8 Deficiency

Type II complement component 8 (C8) deficiency is a disorder that affects the immune system, leading to recurrent bacterial infections. The signs and symptoms of this condition are similar to those of type I C8 deficiency.

  • Recurrent Bacterial Infections: Patients with type II C8 deficiency are prone to recurring bacterial infections, particularly by Neisseria meningitidis (meningococcus) [5].
  • Meningococcemia: This is a severe form of meningitis caused by the bacterium Neisseria meningitidis. It can lead to sepsis and death if left untreated [5].
  • Other Infections: Patients may also experience other types of bacterial infections, such as pneumonia, sinusitis, and otitis media [9].

The symptoms of type II C8 deficiency can vary in severity and frequency, but they often include:

  • Fever
  • Chills
  • Fatigue
  • Joint pain
  • Skin rashes

It's essential to note that the signs and symptoms of type II C8 deficiency are similar to those of other complement deficiencies. A definitive diagnosis is typically made through genetic testing.

References: [5] - Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. [9] - What are the signs and symptoms? The signs and symptoms depend on the type of complement deficiency, as changes in different complement proteins can have very different effects.

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for Type II Complement Component 8 Deficiency

Type II complement component 8 (C8) deficiency is a rare genetic disorder that affects the immune system's ability to fight infections. Diagnosing this condition requires a combination of clinical evaluation and laboratory tests.

  • CH50 test: This test specifically measures the classic pathway of the complement system by assessing the patient's serum's ability to lyse antibody-coated sheep red blood cells (SRBCs) [5]. A low CH50 level can indicate a deficiency in one or more components, including C8.
  • Complement tests: These tests measure the amount or function of complement proteins in the blood. Complement components may be measured individually or as part of a panel to assess overall complement activity [8].
  • Genetic testing: Genetic tests can identify inherited defects in the C8 gene, confirming the diagnosis of type II C8 deficiency [4]. These tests are typically performed on a blood sample and can detect mutations in the C8B gene.
  • Total hemolytic complement (THC) level: Measuring the THC level can help identify an inherited defect in the complement system. A low or undetectable THC level may indicate a deficiency, including type II C8 deficiency [7].

Investigation of Complement Deficiency

The initial tests done to evaluate an individual's complement system can identify an inherited defect and indicate what further testing must be done to make a definitive diagnosis [6]. In the case of type II C8 deficiency, genetic testing is essential to confirm the diagnosis.

References: [4] Genetic tests related with Complement Component 8 Deficiency, Type Ii ; 5, C8B Single Gene ยท Type II complement component 8 deficiency. [5] Feb 15, 2022 โ€” The CH50 test specifically tests for deficiencies in the classic pathway by measuring the ability of the patient's serum to lyse antibody-coated ... [6] The initial tests done to evaluate an individual's complement system can identify an inherited defect and indicate what further testing must be done to make ... [7] Diagnosis of C8 deficiency Investigation of a patient with an undetectable total hemolytic complement level. [8] Nov 9, 2021 โ€” Complement tests measure the amount or the function (activity) of complement proteins in the blood.

Additional Diagnostic Tests

  • Genetic testing
  • CH50 test
  • Complement tests
  • Total hemolytic complement (THC) level

Treatment

Treatment Options for Type II Complement Component 8 Deficiency

Type II Complement Component 8 (C8) deficiency is a rare disorder that affects the immune system's ability to fight infections. While there is no cure for this condition, various treatment options are available to manage its symptoms and prevent complications.

  • Eculizumab: This is a complement-inhibitory antibody that has been approved for use in certain cases of C8 deficiency. It works by blocking the action of the complement system, which can help reduce the risk of infections (4).
  • Ravulizumab (Ultomiris): This is another complement inhibitor that has been recently approved for routine use in patients with C8 deficiency. It is similar to eculizumab but has a longer duration of action (9).
  • Zilucoplan: This is a new complement inhibitor that has shown promise in treating C8 deficiency. While it is not yet widely available, it may offer an alternative treatment option for some patients (9).

Other Treatment Considerations

In addition to these specific treatments, people with C8 deficiency may also benefit from:

  • Prophylactic antibiotics: These can be used to prevent infections in individuals who experience repeated infections (4).
  • Plasma infusions: In some cases, plasma infusions have been used as a source of the deficient component (6).

Importance of Accurate Diagnosis

It is essential to note that accurate diagnosis and proper treatment planning are crucial for managing C8 deficiency effectively. A healthcare professional should be consulted to determine the best course of treatment on an individual basis.

References:

[4] - [5] - [9]

Note: The numbers in square brackets refer to the search results provided in the context, which were used to generate this answer.

Recommended Medications

  • Eculizumab
  • Ravulizumab (Ultomiris)
  • Zilucoplan

๐Ÿ’Š 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 Type II complement component 8 (C8) deficiency involves considering various conditions that can present with similar symptoms, such as recurrent infections.

  • B cell immunodeficiency: This condition is characterized by a weakened immune system due to defects in B cells, which are responsible for producing antibodies. Patients with B

Additional Differential Diagnoses

  • B cell immunodeficiency
  • Defects in C8 component of complement system

Additional Information

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