Identification of an autoimmune enteropathy-related 75-kilodalton antigen

Gastroenterology. 1999 Oct;117(4):823-30. doi: 10.1016/s0016-5085(99)70340-9.


Background & aims: We have previously reported a 75-kilodalton autoantigen specific to X-linked autoimmune enteropathy (AIE) associated with tubulonephropathy. The aim of this study was to identify the autoantigen.

Methods: Complementary DNA (cDNA) clones were isolated by immunoscreening a human duodenal cDNA-expression library with serum from a patient with AIE.

Results: cDNA encoding the 75-kilodalton antigen (AIE-75) was identified. The composite nucleotide sequence of the cDNA for AIE-75 was 2214 base pairs long and encoded 552 amino acids. The genomic sequence of AIE-75 was found in Sequence DataBank, which consisted of 21 exons and was located on the chromosome 11p14.3. Recombinant AIE-75 specifically reacted with sera from 3 of 4 unrelated patients with AIE but not with 58 control sera. AIE-75 was predominantly distributed in the epithelial cells of the luminal surface and the upper half of the crypts of the intestine and in the proximal renal tubulus. Similarity searches revealed that the AIE-75 cDNA sequence was an authentic form of several colon cancer-related cDNAs of unknown function. The deduced amino acid sequence contained 3 conserved PSD-95/Dlg/ZO-1 (PDZ) domains.

Conclusions: AIE-75 is a PDZ domain-containing protein expressed in the differentiated epithelial cells of the intestine and kidney and may be involved in protein-protein interaction. The identification of the autoantigen may prove useful in the approach to the pathogenesis of this poorly understood disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence / genetics
  • Autoantigens / analysis*
  • Autoantigens / chemistry
  • Autoantigens / genetics
  • Autoimmune Diseases / immunology*
  • Base Sequence / genetics
  • Blotting, Northern
  • DNA, Complementary / genetics
  • Humans
  • Immunohistochemistry
  • Intestinal Diseases / immunology*
  • Male
  • Molecular Sequence Data
  • Molecular Weight


  • Autoantigens
  • DNA, Complementary

Associated data

  • GENBANK/AB006955
  • GENBANK/AB018687