What are the other Names for this Condition? (Also known as/Synonyms)

• APLAID Syndrome

What is Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation? (Definition/Background Information)

• Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) is a rare genetic disorder characterized by recurrent episodes of fever, skin rash, and inflammation of various organs (liver, lungs, and bones), as well as an increased risk of infections due to a deficiency in certain immune cells (B cells) responsible for producing antibodies
• APLAID Syndrome is manifested at birth. It is caused by mutations in the PLCG2 gene inherited in an autosomal dominant pattern, causing an abnormal immune system response, and thus leading to inflammation and immune dysfunction. Individuals with a positive family history of the disorder are at risk for developing the same
• Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation is typically diagnosed based on a combination of clinical examination, laboratory tests, and genetic testing. Treatment typically includes immunosuppressive and immunomodulatory medications and antibiotics to prevent infections. In some cases, blood transfusions and surgery to remove the spleen may be required
• The prognosis of Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation depends on its severity and treatment effectiveness. The disorder can be life-threatening with inadequate treatment. However, with proper management of APLAID Syndrome, most of the affected individuals can have an improved quality of life. Presently, there are no available measures to prevent the disorder

Who gets Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation? (Age and Sex Distribution)

• Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation is a rare disorder that is manifested at birth (congenital condition)
• It can affect both males and females
• Worldwide, no racial or ethnic group preference is reported

What are the Risk Factors for Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation? (Predisposing Factors)

The risk factors for Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation include:

• Having a family history of the disorder
• Inheriting one copy of the mutated PLCG2 gene, from either parent, to develop the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others. 

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation? (Etiology)

Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation is caused by mutations in the PLCG2 gene.

• This leads to an abnormal immune response resulting in inflammation and immune system dysfunction
• The disorder is inherited in an autosomal dominant manner

Autosomal dominant mode of inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation?

The signs and symptoms of Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation include:

• Recurrent episodes of fever
• Skin rash
• Rashes can flare in response to heat or sunlight exposure
• Eye inflammation, including corneal erosions or ulcerations, as well as cataracts and intraocular hypertension (glaucoma)
• Inflammation of various organs, including the liver, lungs, intestines, and bones
• Some patients develop abdominal pain, diarrhea, or colitis (intestinal inflammation)

An increased risk of infections due to a deficiency in immune cells (B cells) responsible for producing antibodies.

How is Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation Diagnosed?

Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation is typically diagnosed based on a combination of the following:

• Clinical examination and medical history evaluation
• Assessment of the presenting signs and symptoms
• Laboratory tests
• Imaging studies
• Genetic testing

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation?

Complications of Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation may include:

• Loss of vision
• Inflammation of various organs, leading to organ damage
• An increased risk of infections due to a deficiency in certain immune cells (B cells) responsible for producing antibodies

How is Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation Treated?

• Treatment for Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation typically includes:
  • Immunosuppressive and immunomodulatory medications
  • Antibiotics to prevent infections
• In some cases, additional treatments may be required such as: 
  • Blood transfusions
  • Splenectomy (surgical removal of the spleen)

How can Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation be Prevented?

• Presently, it is not possible to prevent Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation as the cause is a genetic mutation
• Genetic counselling and testing may be recommended for individuals with a family history of the disorder and for couples planning to have children

What is the Prognosis of Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation? (Outcomes/Resolutions)

The prognosis for Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) varies depending on the severity of the disorder and the effectiveness of the treatment. 

• With proper treatment, the majority of patients can have a good quality of life
• However, the disorder can be life-threatening if left untreated

Additional and Relevant Useful Information for Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation:

The following link is a useful resource for further information on rare diseases and disorders:

https://www.dovemed.com/diseases-conditions/rare-disorders/