Genetic Aspects of Immunoglobulin A Deficiency

  • Charlotte Cunningham-Rundles
Part of the Advances in Human Genetics book series (AHUG, volume 19)


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.


Major Histocompatibility Complex Turner Syndrome Genetic Aspect Common Variable Immunodeficiency Secretory Component 
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Copyright information

© Springer Science+Business Media New York 1990

Authors and Affiliations

  • Charlotte Cunningham-Rundles
    • 1
  1. 1.Mount Sinai HospitalNew YorkUSA

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