Advances in Human Genetics pp 235-266 | Cite as
Genetic Aspects of Immunoglobulin A Deficiency
Abstract
Selective IgA deficiency, one of the most common of the primary immunodeficiencies, was first described in 1964 (Rockey et al. 1964). In this deficiency, serum IgA levels are usually 5 mg/dl or less (normal ranges for adults are 90–450 mg/dl), while the other serum immunoglobulins, IgG and IgM, are normal. Despite the fact that selective IgA deficiency is a common immunologic abnormality, and many immunologic and chromosomal analyses have been performed to elucidate the reason for this deficiency, no simple cause or associations have emerged. Selective IgA deficiency has been linked to various deletion syndromes of chromosome 18, and in rare cases to deletions of the IgAl or IgA2 gene and selected IgG heavy-chain genes on chromosome 14. Other data point to a still hypothetical controlling region of the major histocompatibility complex. Much exciting data have emerged from these studies, but a unifying theme for the cause of IgA deficiency in the majority of cases remains elusive.
Keywords
Major Histocompatibility Complex Turner Syndrome Genetic Aspect Common Variable Immunodeficiency Secretory ComponentPreview
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References
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