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How to identify the mysterious signs of primary immunodeficiency?
Primary immunodeficiency disorders (PIDs) are a group of diseases in which part of the body's immune system is missing or does not function properly. These immune deficiencies must be inherent and not caused by secondary factors, such as other diseases, medications, or exposure to toxins in the environment. Most immunodeficiency disorders are caused by genetic factors and are usually diagnosed in children under one year old, but milder cases may not be noticed until adulthood. According to statistics in 2019, more than 430 innate immune errors (IEIs) have been confirmed, and most of these are primary immunodeficiency disorders, although most are very rare. An estimated 1 in 500 people in the United States are born with a primary immunodeficiency disorder.
Immune deficiency may lead to persistent or recurrent infections, autoinflammatory diseases, tumors, and diseases of multiple organs.
Symptoms and signs
The specific symptoms of primary immunodeficiency vary depending on the type. Generally, symptoms that lead to an immunodeficiency diagnosis include recurrent or persistent infections, or delayed development of a disease due to an infection. Problems with certain specific organs, such as disorders of the skin, heart, facial development, and skeletal system, may occur in some cases. Other conditions may predispose individuals to autoimmune diseases, in which the immune system attacks its own tissues, or to tumors (sometimes specific forms of cancer, such as lymphoma).
Reason
Primary immunodeficiency disorders are, by definition, genetic in origin. These defects may result from single gene mutations, but most are multifactorial. They can be caused by recessive or dominant inheritance. Some deficiencies may be latent and require specific environmental triggers to manifest, such as the presence of a certain allergen. Other problems become apparent as the body and cellular maintenance mechanisms age.
Diagnosis
In cases where immunodeficiency is suspected, basic workup should include a complete blood count (including accurate lymphocyte and neutrophil counts) and immunoglobulin levels (including IgG, IgA, and IgM). Other tests performed depending on the suspected condition may include: quantification of different types of mononuclear cells (i.e. lymphocytes and monocytes) in the blood, functional tests of T lymphocytes, functional tests of B lymphocytes and phagocytes, etc. In many of the rare primary immunodeficiency disorders, these tests are usually performed by specialized research laboratories.
"The progress in gene therapy since 2006 has brought hope for the future of treating primary immunodeficiency diseases."
Categories
There are many types of primary immunodeficiency disorders. The International Union of Immunological Societies recognizes nine major categories of primary immunodeficiency disorders, covering more than 120 conditions. The 2014 updated classification guidelines added a new ninth category and expanded 30 new genetic defects from the previous 2009 version. These disorders can be broadly divided into humoral disorders of the immune system, T-cell and B-cell disorders, phagocyte disorders, and complement disorders. Most forms of primary immunodeficiency are very rare, with IgA deficiency being an exception, affecting approximately 1 in 500 people.
Treatment methods
Treatment of primary immunodeficiency disorders depends primarily on the nature of the disorder. Most treatments are passive and palliative in nature and include two modes: managing infection and boosting the immune system. Reducing exposure to pathogens is recommended, and in many cases prophylactic antibiotics or antiviral medications may be recommended. In cases of humoral immunity deficiency, immunoglobulin replacement therapy with intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG) may be possible.
Research Status
Myeloma stem cell transplantation may be beneficial in severe primary immunodeficiency, and virus-specific T lymphocyte (VST) therapy has been used in patients who have undergone hematopoietic stem cell transplantation that has proven unsuccessful. The treatment utilizes active donor T cells isolated from donor T cells that effectively fight a specific virus, which are stimulated to produce more in a short period of time with a higher success rate.
Conclusion
As research into primary immunodeficiency disorders deepens, the medical community's understanding of and treatment of these diseases is also gradually improving. In the future, more effective therapies will hopefully be developed to help patients improve their quality of life. But will we ever fully understand these mysterious immune deficiencies?
