127
Views
0
CrossRef citations to date
0
Altmetric
Case Report

A novel case of natural killer cell deficiency associated with Joubert syndrome

, , , , , & show all
Pages 587-590 | Received 20 Dec 2012, Accepted 02 Mar 2013, Published online: 23 Apr 2013

References

  • Joubert M, Eisenring J-J, Robb JP, Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969;19:813–25.
  • Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet 2008;51:1–23.
  • Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet 2009;151C:326–40.
  • Sztriha L, Al-Gazali LI, Aithala GR, Joubert's syndrome: new cases and review of clinicopathologic correlation. Pediatr Neurol 1999;20:274–81.
  • Lambert SR, Kriss A, Gresty M, Joubert syndrome. Arch Ophthalmol 1989;107:709–13.
  • Friede RL, Boltshauser E. Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. Dev Med Child Neurol 1978;20:758–63.
  • Christensen ST, Pedersen LB, Schneider L, Sensory cilia and integration of signal transduction in human health and disease. Traffc 2007;8:97–109.
  • Cantagrel V, Silhavy JL, Bielas SL, Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet 2008;83:170–9.
  • Bielas SL, Silhavy JL, Brancati F, Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet 2009;41:1032–6.
  • Singla, V, Reiter, JF. The primary cilium as the cell's antenna: signaling at a sensory organelle. Science 2006;313:629–33.
  • Vogel, G. News focus: betting on cilia. Science 2005;310:216–8.
  • Katsanis, N. Ciliary proteins and exencephaly. Nat. Genet 2006;38:135–6.
  • Louie, CM, Gleeson, JG. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 2005;14:R235–R242.
  • Moretta L, Moretta A. Unravelling natural killer cell function: triggering and inhibitory human NK receptors. EMBO J 2004;23:255–9.
  • Johansson S, Hall H, Berg L, NK cells in autoimmune disease. Curr Top Microbiol Immunol 2006;298:259–77.
  • Ishikawa T, Zhu BL, Li DR, An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature. Forensic Sci Int 2008;179: e67–e73.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.