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  Vol. 248 No. 11, September 17, 1982 TABLE OF CONTENTS
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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.

Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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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