Interferon Gamma is a cytokine that helps to induce an immune response by activating the immune system to help recognise and locate invading disease-causing organisms.
Interleukin 12 and Interleukin 23 are similar signalling proteins and, therefore, also part of the immune response in the body’s immune system. These interleukins are mostly required as a way for T cells to communicate with each other. They also help to control inflammation in the body itself.
Cytokines allow the immune system to mount an attack against invading pathogens and viruses. However, too many cytokines can cause inflammation that can lead to major complications whilst the body is fighting an infection.
Interferon Gamma, Interleukin 12, and Interleukin 23 deficiencies can also cause problems as too few of these can cause immunodeficiency and therefore leave sufferers prone to disease-causing bacteria and viruses, along with other complications such as the development of autoimmune diseases.
It is an inherited disorder which means that the fault lies with mutations in genes that are passed on from parents to children.
The symptoms of Interferon Gamma, Interleukin 12, and Interleukin 23 deficiencies are a poor functioning immune system, and the consequences of this are frequent infections that the body cannot effectively fight.
Bacterial and viral infections are common and can often need medical intervention to prevent them from becoming severe or life-threatening. These infections can include respiratory infections and gastrointestinal infections, many of which the body would normally deal with if the immune system was not compromised.
Autoimmune Lymphoproliferative Syndrome (ALPS)
Caspase Eight Deficiency State (CEDS)
CARD9 Deficiency And Other Syndromes Of Susceptibility To Candidiasis
Chronic Granulomatous Disease (CGD)
Common Variable Immunodeficiency (CVID)
Congenital Neutropenia Syndromes
Hyper-Immunoglobulin E Syndromes
Hyper-Immunoglobulin M Syndromes
Leukocyte Adhesion Deficiency (LAD)
PLCG2-Associated Antibody Deficiency And Immune Dysregulation (PLAID)
Severe Combined Immunodeficiency (SCID)
STAT3 Dominant Negative Disease (STAT3DN)
STAT3 Gain-Of-Function Disease (STAT3 GOF)
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis (WHIM) Syndrome
Wiskott-Aldrich Syndrome (WAS)
X-Linked Agammaglobulinemia (XLA)
X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
The causes of Interferon Gamma, Interleukin 12, and Interleukin 23 deficiencies are mutations in genes that are responsible for the normal formation of these immune system signalling proteins.
Without adequate levels of these cytokines in the body, proper T cell communication, which is needed for healthy immune system functioning, is compromised, leading to the classic symptoms of immunodeficiency.
The risk factors are carriers of the gene mutations having children and passing the mutated genes to them, which would activate the deficiency, leading to a life of illness of differing severity.
A detailed medical history noting the frequency and types of infections the patient has experienced is the starting point for successfully diagnosing this condition. A physical examination can also be carried out.
Another necessity is lab tests to examine the cells of the immune system through blood testing. This can check for abnormalities, whilst gene testing can confirm any mutations in the genes involved in the development of this condition.
As already mentioned, the main therapy available is drugs such as antibiotics and antivirals, which can help to control certain infections. Replacement therapy of undersupplied signalling proteins can restore some balance to the immune system. This can help individuals battle disease-causing organisms more effectively. Stem cell therapy is also an option but rejection is possible.
Preventing this condition would rely on genetic screening of couples for the gene mutation before they go on to have children of their own. Then they would be placed in a position to decide whether to go ahead or avoid having children. This would avoid the risk of giving birth to a child that may go on to develop this immune system deficiency if they decide against starting a family.