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Pernicious Anemia, 18q Deletion Syndrome, and IgA Deficiency
Raphael B. Stricker, MD;
Charles A. Linker, MD
JAMA. 1982;248(11):1359-1360.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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THE CHROMOSOME 18q deletion (18q—) syndrome is a well-described clinical entity characterized by mental retardation, short stature, and a variety of developmental abnormalities.1,2 The syndrome often includes selective IgA deficiency.3 Although IgA deficiency has been associated with a wide range of autoimmune disorders,4,5 only a few patients with 18q— and IgA deficiency have exhibited autoimmune phenomena.6
We report a case of 18q— syndrome with IgA deficiency complicated by a polyglandular autoimmune disorder composed of pernicious anemia, hypothyroidism, and hypoparathyroidism.
Report of a Case
A 21-year-old woman experienced the sudden onset of pallor and fatigue and was hospitalized because of severe anemia. She was the product of a normal gestation and delivery, but her growth and development were strikingly slowed. At the age of 9 years, the diagnosis of 18q— syndrome was made, with the additional finding of a ring 18p chromosome. The IgA level was 8
. . . [Full Text PDF of this Article]
Author Affiliations
From the Cancer Research Institute, University of California, San Francisco.
Footnotes
Reprint requests to Cancer Research Institute, 1282-M, University of California, San Francisco, CA 94143 (Dr Stricker).
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