P13 Kinase disease is a disorder of the immune system. Those with P13K are highly susceptible to infections, and their ability to fight infections effectively is diminished. P13K disease also places sufferers at increased risk of developing lymphoma, which is a type of cancer of the immune cells.
P13 Kinase disease was discovered in 2013, and research has been ongoing into discovering suitable treatments for the symptoms and complications associated with this illness.
P13K is a genetic disorder caused by mutations in the genes PIK3CD or PIK3R1. These mutations affect the normal development of B and T cells which help fight off bacteria and viruses. This is caused because the disease interferes with the manufacturing process of an important protein, resulting in the over-activation of an important immune system signalling pathway.
The main symptoms experienced by those with P13 Kinase disease are frequent respiratory infections that can lead to permanent damage to the airways. These come mostly in the form of bronchitis and repeat bouts of pneumonia.
Other infections can include sinus and ear infections along with chronic viral infections, especially with the Epstein-Barr virus. Abnormal clumping of white blood cells is another feature of P13K. This can lead to the build-up of solid masses known as nodular lymphoid hyperplasia in both the intestines and the airways.
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STAT3 Gain-Of-Function Disease (STAT3 GOF)
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis (WHIM) Syndrome
Wiskott-Aldrich Syndrome (WAS)
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X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
P13K is a genetically inherited disorder that is caused by mutations in the gene that is supposed to provide the instructions for the body to manufacture a specific protein. This protein is responsible for the normal growth and division of white blood cells. The result of this defect is the production of immune cells that cannot fight infections and that die earlier than usual.
Diagnosis of P13 Kinase Disease is usually made once lab tests such as blood tests and genetic testing have been completed. A blood test can identify abnormal levels of certain antibodies, whilst genetic testing can identify the mutations in the gene responsible for manufacturing the protein required for healthy infection-fighting cells.
Patients may also be asked to describe their physical symptoms in great depth, and a physical examination may also follow.
The majority of therapies currently available aim to lessen the effects the symptoms of P13K have on sufferers, thus improving quality of life and lengthening life expectancy.
Treatment of P13K symptoms usually involves antibiotics and antivirals for chronic infections. These can prevent infections such as pneumonia from becoming life-threatening. Immunoglobulin replacement therapy and stem cell transplantation can also be used in some cases.
Some drug therapies also aim to balance the cells of the immune system by inhibiting the response of the immune system pathway that is overactivated.
With most genetic disorders that are caused by mutations in genes, genetic screening is the best way to prevent having children that may develop this inherited disorder. If parents are carriers of the mutation, then there is a high chance that any offspring will go on to develop this disease.