LRBA deficiency is considered a rare medical condition and is caused by a genetic disorder. It is given its name because of a mutation in the gene LRBA. This leads to a variety of health problems which are mainly linked to poor immune cell regulation, which causes the immune system to malfunction.
The absence of a lipopolysaccharide-responsive beige-like anchor gene, which is what the abbreviation LRBA stands for, also results in autoimmunity and chronic inflammation. This is because, in its absence, certain immune cells are not regulated properly and therefore do not carry out their specific functions normally.
The incomplete functions lead to excessive numbers of immune cells called lymphocytes being produced, and sometimes these cells can build up where they are not needed, such as around organs like the lungs. This infiltration of lymphocytes can also occur in the gut and the brain, creating further symptoms in sufferers of this genetic disorder.
LRBA deficiency presents itself by expressing a number of different symptoms in those with this condition. Anything from frequent and recurring infections because of low numbers of antibodies, which include frequent gut infections and lung infections, is commonly observed. Chronic diarrhoea can also be present along with growth problems, and sometimes even lymphoma develops, which is a type of cancer.
The causes of LRBA deficiency are genetic, and in particular, the genetic mutation of the LRBA gene. A healthy immune system needs to be regulated and instructed when it needs to ramp up activity and when it should slow down.
This control of the immune system is lost in those with LRBA deficiency, and since LRBA defects influence various immune cells, the result is that the sufferer can experience autoimmunity and also immunodeficiency.
Autoimmunity reverses the immune response leading to the immune system attacking the body instead of pathogens and viruses. Immunodeficiency leaves sufferers with an inadequate immune system that cannot fight infection-causing organisms effectively.
Risk factors are that sufferers could die prematurely from common infections or go on to develop debilitating autoimmune diseases. Furthermore, the risk of an infant developing this condition is elevated if both parents have a copy of the abnormal gene and a copy from each parent is passed onto their child.
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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
Interferon Gamma, Interleukin 12 And Interleukin 23 Deficiencies
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
Diagnosis is made through lab tests such as blood testing to examine the immune cells. Anaemia may also be present along with other blood problems, such as poor blood clotting factors. Doctors may also test for autoimmune diseases such as thyroiditis and various infections. Genetic testing can also help to confirm a diagnosis of this disorder.
Treatments include therapies for autoimmune disorders, if available, whilst infections are treated with antivirals and antibiotics. Immune cell deficiencies can be treated with replacement therapy.
Some medications that inhibit the immune system pathway that has been overactivated by this genetic disorder can also help lessen the impact this condition has on the body. In extreme cases, a bone marrow transplant can be performed.
Genetic screening for LRBA deficiency can help prevent carriers of the faulty gene from having children who would be at high risk of developing this disease.