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Editorial
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Volume 337:781-783 September 11, 1997 Number 11
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The Case of the Bare Lymphocyte Syndrome — Tracking Down Faulty Transcription Factors

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In this issue of the Journal, Villard and his colleagues in Geneva report a new kind of mutation in children with primary deficiency of major-histocompatibility-complex (MHC) class II molecules (also called the bare lymphocyte syndrome).1 Since there are fewer than 100 known cases of this disorder worldwide, it is unlikely that readers of the Journal will ever encounter the problem in clinical practice. Why, then, did we decide to publish Villard's paper? Because it is an elegant piece of medical detective work that illuminates an important principle about genetic diseases.

A rarity is not necessarily uninteresting — an exhibition of . . . [Full Text of this Article]

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