PEDIATRICS Vol. 96 No. 2 August 1995, pp. 411
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CYSTIC FIBROSIS HETEROZYGOTE RESISTANCE TO CHOLERA TOXIN IN THE CYSTIC FIBROSIS MOUSE MODEL

David H. Dreyfus MD, PhD1 and Andrew H. Liu MD1

1 Denver, CO

The authors propose that the widespread distribution of cystic fibrosis may reflect an underlying benefit to heterozygous individuals for CFTR mutations via increased resistance to secretory diarrhea. Ironically, in the homozygous state, CFTR disfunction leads to increased infection with a variety of respiratory and other pathogens, thus negating any benefit to human homozygotes.