About Activated PI3K-delta syndrome

What is Activated PI3K-delta syndrome?

Activated PI3K-delta syndrome (APDS) is a rare genetic disorder caused by mutations in the PIK3CD gene. It is characterized by recurrent infections, enlarged lymph nodes, and an increased risk of developing certain types of cancer. Other symptoms may include low platelet count, anemia, and skin rashes. Treatment typically involves antibiotics, immunoglobulin therapy, and chemotherapy.

What are the symptoms of Activated PI3K-delta syndrome?

The symptoms of Activated PI3K-delta syndrome vary from person to person, but may include:

-Growth delays
-Developmental delays
-Facial dysmorphism
-Low muscle tone
-Feeding difficulties
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Gastrointestinal issues
-Immune system problems
-Skin abnormalities
-Skeletal abnormalities

What are the causes of Activated PI3K-delta syndrome?

Activated PI3K-delta syndrome is caused by a genetic mutation in the PIK3CD gene. This gene provides instructions for making a protein called phosphoinositide-3-kinase delta (PI3K-delta). This protein is involved in the regulation of several important cellular processes, including cell growth, survival, and movement. Mutations in the PIK3CD gene lead to an overactive form of the PI3K-delta protein, which can cause the signs and symptoms of Activated PI3K-delta syndrome.

What are the treatments for Activated PI3K-delta syndrome?

The treatments for Activated PI3K-delta syndrome vary depending on the individual and the severity of the condition. Generally, treatments may include medications to reduce inflammation, physical therapy, occupational therapy, speech therapy, and surgery. Medications may include non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and immunosuppressants. Physical therapy may help improve mobility and strength, while occupational therapy can help with activities of daily living. Speech therapy may help with communication and swallowing difficulties. Surgery may be necessary to correct physical deformities or to remove tumors.

What are the risk factors for Activated PI3K-delta syndrome?

1. Mutation in the PIK3CD gene
2. Family history of the disorder
3. Male gender
4. Premature birth
5. Low birth weight
6. Respiratory distress
7. Seizures
8. Developmental delay
9. Intellectual disability
10. Abnormal facial features
11. Abnormalities of the hands and feet
12. Abnormalities of the eyes
13. Abnormalities of the heart
14. Abnormalities of the kidneys
15. Abnormalities of the gastrointestinal tract
16. Abnormalities of the immune system

Is there a cure/medications for Activated PI3K-delta syndrome?

At this time, there is no cure for Activated PI3K-delta syndrome. However, there are medications that can help manage the symptoms of the condition. These medications include corticosteroids, immunosuppressants, and biologic agents. Additionally, physical and occupational therapy can help improve mobility and quality of life.