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Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors that affect the patient's immune system. Examples of these extrinsic factors include HIV infection and environmental factors, such as nutrition. Immunocompromisation may also be due to genetic diseases/flaws such as SCID.
Adenosine deaminase deficiency is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts for about 10–20% of all cases of autosomal recessive forms of severe combined immunodeficiency (SCID) after excluding disorders related to inbreeding.
Common variable immunodeficiency (CVID) is an inborn immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM, and IgA. Symptoms generally include high susceptibility to pathogens, chronic lung disease, as well as inflammation and infection of the gastrointestinal tract.
The Icahn School of Medicine at Mount Sinai, formerly the Mount Sinai School of Medicine, is a private medical school in New York City, New York, United States. The school is the academic teaching arm of the Mount Sinai Health System, which manages eight hospital campuses in the New York metropolitan area, including Mount Sinai Hospital and the New York Eye and Ear Infirmary.
Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome or Buckley syndrome, is a heterogeneous group of immune disorders. Job's is also very rare at about 300 cases currently in the literature.
Selective immunoglobulin A (IgA) deficiency (SIgAD) is a kind of immunodeficiency, a type of hypogammaglobulinemia. People with this deficiency lack immunoglobulin A (IgA), a type of antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. It is defined as an undetectable serum IgA level in the presence of normal serum levels of IgG and IgM, in persons older than 4 years. It is the most common of the primary antibody deficiencies. Most such persons remain healthy throughout their lives and are never diagnosed.
Dysgammaglobulinemia is a type of immune disorder characterized by a reduction in some types of gamma globulins, resulting in heightened susceptibility to some infectious diseases where primary immunity is antibody based.
Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function normally. To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease, drug treatment, or environmental exposure to toxins. Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood. While there are over 430 recognized inborn errors of immunity (IEIs) as of 2019, the vast majority of which are PIDs, most are very rare. About 1 in 500 people in the United States are born with a primary immunodeficiency. Immune deficiencies can result in persistent or recurring infections, auto-inflammatory disorders, tumors, and disorders of various organs. There are currently limited treatments available for these conditions; most are specific to a particular type of PID. Research is currently evaluating the use of stem cell transplants (HSCT) and experimental gene therapies as avenues for treatment in limited subsets of PIDs.
An immune disorder is a dysfunction of the immune system. These disorders can be characterized in several different ways:
Humoral immune deficiencies are conditions which cause impairment of humoral immunity, which can lead to immunodeficiency. It can be mediated by insufficient number or function of B cells, the plasma cells they differentiate into, or the antibody secreted by the plasma cells. The most common such immunodeficiency is inherited selective IgA deficiency, occurring between 1 in 100 and 1 in 1000 persons, depending on population. They are associated with increased vulnerability to infection, but can be difficult to detect in the absence of infection.
Jane Aronson, D.O. is an osteopathic physician, with expertise in pediatric infectious diseases and adoption medicine.
Meyer Stanley Balter, MD, FRCPC, FACP, FCCP is a Canadian physician specializing in asthma, sarcoidosis and chronic obstructive pulmonary disease (COPD).
Hans Dieter Ochs, is an immunologist and pediatrician. He is Professor of Pediatrics, Division of Immunology, Department of Pediatrics, University of Washington School of Medicine, Seattle.
Michael Stuart Gottlieb is an American physician and immunologist known for his 1981 identification of acquired immune deficiency syndrome (AIDS) as a new disease, and for his HIV/AIDS research, HIV/AIDS activism, and philanthropic efforts associated with HIV/AIDS treatment.
T cell deficiency is a deficiency of T cells, caused by decreased function of individual T cells, it causes an immunodeficiency of cell-mediated immunity. T cells normal function is to help with the human body's immunity, they are one of the two primary types of lymphocytes(the other being B cells).
Asghar Aghamohammadi was an Iranian (Persian) medical scientist, Immunologist and Immunology professor at the Tehran University of Medical Sciences. Aghamohammadi had studied in many institutes, including the Ahvaz Jundishapur University of Medical Sciences, Tehran University of Medical Sciences, Great Ormond Street Hospital and the University of Toyama. He had been one of the most distinguished Iranian Immunologists and awarded many national scientific prizes for his works, mostly in the field of primary immunodeficiency. Aghamohammadi is recognized internationally by hundreds of publications in this field and was the most important contributor to awareness of primary immunodeficiencies and to the management of immunodeficient patients in Iran. He had even been regarded as one of the most notable Iranian people in some lists.
Suranjith Seneviratne is a doctor from Sri Lanka who practices in allergology and immunology.
An innate immune defect is a defect in the innate immune response that blunts the response to infection. These defects may occur in monocytes, neutrophils, natural killer cells, basophils, mast cells or complement proteins.
Inborn errors of immunity (IEI) are genetic mutations that result in an increased susceptibility to infectious disease, autoinflammatory disease, allergy, or autoimmunity. Inborn errors include, but are not limited to, primary immunodeficiencies. As of 2020, there are 431 identified inborn errors of immunity.
References
- 1 2 3 4 Angel, Karen (7 June 1999). "Dr. Charlotte Cunningham-Rundles: Triple Threat". New York Magazine. Retrieved 6 October 2012.
- 1 2 "Dr. Cunningham-Rundles is married". New York Times. 14 November 1982. Retrieved 6 October 2012.
- 1 2 3 4 "Dr. Charlotte Cunningham-Rundles biographical sketch" (PDF). Archived from the original (PDF) on 24 January 2009. Retrieved 6 October 2012.
- ↑ Charles, Katie (30 June 2010). "When Science Grants Immunity". New York Daily News.
- 1 2 3 4 "Charlotte Cunningham-Rundles" . Retrieved 6 October 2012.
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