Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

Naomi J. Lohr, Jean Molleston, Kevin A. Strauss, Wilfredo Torres-Martinez, Eric A. Sherman, Robert H. Squires, Nicholas L. Rider, Kudakwashe R. Chikwava, Oscar Cummings, D. Holmes Morton, Erik G. Puffenberger

Research output: Contribution to journalArticle

102 Citations (Scopus)

Abstract

Ubiquitin ligases play an important role in the regulation of the immune system. Absence of Itch E3 ubiquitin ligase in mice has been shown to cause severe autoimmune disease. Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromosome 20 and selected candidate genes for screening. We describe, in ten patients, identification of a mutation resulting in truncation of ITCH. These patients represent the first reported human phenotype associated with ITCH deficiency. These patients not only have multisystem autoimmune disease but also display morphologic and developmental abnormalities. This disorder underscores the importance of ITCH ubiquitin ligase in many cellular processes.

Original languageEnglish
Pages (from-to)447-453
Number of pages7
JournalAmerican Journal of Human Genetics
Volume86
Issue number3
DOIs
StatePublished - 2010

Fingerprint

Ubiquitin-Protein Ligases
Autoimmune Diseases
Ligases
Ubiquitin
Amish
Chromosomes, Human, Pair 20
Immune System
Phenotype
Mutation
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Lohr, N. J., Molleston, J., Strauss, K. A., Torres-Martinez, W., Sherman, E. A., Squires, R. H., ... Puffenberger, E. G. (2010). Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease. American Journal of Human Genetics, 86(3), 447-453. https://doi.org/10.1016/j.ajhg.2010.01.028

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease. / Lohr, Naomi J.; Molleston, Jean; Strauss, Kevin A.; Torres-Martinez, Wilfredo; Sherman, Eric A.; Squires, Robert H.; Rider, Nicholas L.; Chikwava, Kudakwashe R.; Cummings, Oscar; Morton, D. Holmes; Puffenberger, Erik G.

In: American Journal of Human Genetics, Vol. 86, No. 3, 2010, p. 447-453.

Research output: Contribution to journalArticle

Lohr, NJ, Molleston, J, Strauss, KA, Torres-Martinez, W, Sherman, EA, Squires, RH, Rider, NL, Chikwava, KR, Cummings, O, Morton, DH & Puffenberger, EG 2010, 'Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease', American Journal of Human Genetics, vol. 86, no. 3, pp. 447-453. https://doi.org/10.1016/j.ajhg.2010.01.028
Lohr, Naomi J. ; Molleston, Jean ; Strauss, Kevin A. ; Torres-Martinez, Wilfredo ; Sherman, Eric A. ; Squires, Robert H. ; Rider, Nicholas L. ; Chikwava, Kudakwashe R. ; Cummings, Oscar ; Morton, D. Holmes ; Puffenberger, Erik G. / Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease. In: American Journal of Human Genetics. 2010 ; Vol. 86, No. 3. pp. 447-453.
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