![]() ![]() ![]() Neutralizing autoantibodies against specific cytokines, important molecules that help fight infections, may be present in those patients leading to a significant increase in infection rate. Individuals with early onset multiple autoimmunity and/or granulomas should be investigated for possible immune defects. Granulomas are mainly localized in the skin, but the mucosa, lymphoid tissue, and internal organs may also be affected. Granuloma formation is another manifestation of immune dysregulation. Endocrine glands are often affected, leading to high rates of hypo- and hyperthyroidism, diabetes, hypoparathyroidism, and adrenal insufficiency. In many forms of CID, functional impairment of regulatory T cells (a subgroup of T cells that are able to control and suppress self-reactive lymphocytes) has also been documented.Īutoimmune diseases frequently seen are autoimmune cytopenias (autoimmune hemolytic anemia, thrombocytopenia, and neutropenia), enteropathy, endocrinopathies, liver disease, vitiligo, alopecia, nephritis, and central nervous system autoimmunity. Autoimmune manifestations are due to different mechanisms, including T cell dysfunction leading to self-reactivity against the subject’s own tissues, or B cell dysfunction with consequent autoantibody production and organ damage. Multiple autoimmune manifestations in the same individual, with typical patterns of presentation with specific genetic variants, have been documented in CID. Interestingly, some individuals with CID may not present with infections but rather with autoimmunity, tissue inflammation, and allergic disorders as a consequence of immune dysregulation. Diarrhea and failure to thrive are present in only half of those affected. The spectrum of severity is variable, ranging from life-threatening and disseminated infections characteristic of SCID to milder infections that respond to conventional therapy and do not require hospitalization. However, many instead may be uniquely affected by infections characteristic of a deficit of humoral immunity, such as recurrent bacterial sinopulmonary infections. Individuals with CID may present with infections that are typical of deficits of cellular immunity, like chronic viral infections (CMV, HPV, EBV), mycobacterial disease, fungal, parasitic, or other opportunistic infections. An increased incidence of hematologic malignancy and solid tumors has also been reported, especially in adulthood. Individuals with milder defects, however, may not present until later in childhood or even early adulthood. Individuals with CID often present in the first two years of life with recurrent infections and/or immune dysregulation and specific findings associated with the different syndromes. Fortunately, the success rate of HSCT, particularly for those without an HLA-matched sibling donor, has improved substantially over the past few years, so the risk of this treatment has become much more acceptable for less severely affected individuals. the potential benefits of a particular treatment strategy. This becomes important when considering the relative potential risks vs. Unfortunately, the prognosis of CID is not always easy to determine at the level of the affected individual. The clinical spectrum of CID is wide, with some disorders causing mild to moderate disease and others causing severe susceptibility to infections, as well as inflammatory complications due to immune dysregulation (dysfunction of the immune system in which lymphocytes may be present but not work well, allowing for the development of excessive autoreactivity and resultant autoimmune disease and inflammation). Unlike severe combined immunodeficiency (SCID), T cells are usually detectable in CID, and their function can be variably affected. CID is referred to as 'combined' because both T cells and B cells are affected. ![]() CID is a group of rare genetic disorders of the immune system that results in impaired immunity. ![]()
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