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Comment
. 2001 Jan;107(2):155-7.
doi: 10.1172/JCI11966.

Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse

D D Patel  1
Affiliations
Comment

Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse

D D Patel. J Clin Invest. 2001 Jan.
No abstract available

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Figures

Figure 1
Figure 1
Schematic of the normal and mutant products of the Foxp3/JM2 gene, indicating the mutations that lead to XLAAD and Scurfy. Regions of the Foxp3 open reading frame (ORF) found by cDNA sequencing and not predicted by the exon prediction programs of the human genome project (HGP) are shown by hatched red bars. This additional NH2-terminal sequence is encoded in part by an additional 5′ exon, as noted by Brunkow et al. (2). Chatila et al. (1), following the HGP-annotated sequence, predicted a shorter NH2-terminal domain. The mutant protein in the XLAAD-100 family and Scurfy mice are truncated at similar positions, whereas the mutant protein in the XLAAD-200 family carries a single amino acid deletion in the Zip domain. Zn, Zinc-finger domain; Zip, Zip motif; FKH, fork head homology domain.
See this image and copyright information in PMC

Comment on

References

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    1. Brunkow, M.E., et al. 2001. Disruption of a novel forkhead/winged helix protein, scurfin, results in the rapidly fatal lymphoproliferative disorder of the scurfy mouse. Nat. Genet. In press. - PubMed
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    1. Bennett CL, et al. X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. Am J Hum Genet. 2000;66:461–468. - PMC - PubMed

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