|
|
 Previous Article | Table of Contents | Next Article 
Blood, Vol. 95 No. 3 (February 1), 2000:
pp. 979-983
Protein truncation test of LYST reveals heterogenous mutations
in patients with Chediak-Higashi syndrome
Stéphanie Certain,
Franck Barrat,
Elodie Pastural,
Françoise Le Deist,
Jose Goyo-Rivas,
Nada Jabado,
Malika Benkerrou,
Reinhard Seger,
Etienne Vilmer,
Gilles Beullier,
Klaus Schwarz,
Alain Fischer, and
Geneviève de Saint Basile
From the Unité de Recherche sur le développement normal
et pathologique du système immunitaire INSERM U429 et Unité
d'immuno-hématologie pédiatrique, Hôpital
Necker-Enfants Malades, Paris, France; Departamento de Puericultura y
Pediatria, Universidad de los Andes, Merida, Venezuela; Unité
d'Hématologie-Immunologie, Hôpital Robert Debré,
Paris, France; Abt. Immunologie/Hämatologie/Infektiologie,
Zürich, Switzerland; Service de pédiatrie, Hôpital
Gabriel Martin, Saint-Paul, France; and Transfusion Medicine,
University of Ulm, Germany.
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive
disorder in which an immune deficiency occurs in association with
pigmentation abnormalities. Most patients who do not undergo bone
marrow transplantation die of a lymphoproliferative syndrome, though
some patients with CHS have a relatively milder clinical course of the
disease. The large size of the LYST gene, defective in CHS, has made it
difficult to screen for mutations in a large number of patients. Only 8 mutations have been identified so far, and all lead to a truncated LYST
protein. We conducted protein truncation tests on this gene in 8 patients with CHS. Different LYST mutations were identified in all
subjects through this approach, strengthening the observation of a high
frequency of truncated LYST proteins as the genetic cause of CHS.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
C. R. Weiler and J. L. Bankers-Fulbright
Common Variable Immunodeficiency: Test Indications and Interpretations
Mayo Clin. Proc.,
September 1, 2005;
80(9):
1187 - 1200.
[Abstract]
[PDF]
|
|
|
|
|
|
|
M. Tardieu, C. Lacroix, B. Neven, P. Bordigoni, G. d. S. Basile, S. Blanche, and A. Fischer
Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome
Blood,
July 1, 2005;
106(1):
40 - 42.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. M. Lipton, S. Westra, C. E. Haverty, D. Roberts, and N. L. Harris
Case 28-2004 - Newborn Twins with Thrombocytopenia, Coagulation Defects, and Hepatosplenomegaly
N. Engl. J. Med.,
September 9, 2004;
351(11):
1120 - 1130.
[Full Text]
[PDF]
|
|
|
|
|
|
|
Y. Su, R. J. Balice-Gordon, D. M. Hess, D. S. Landsman, J. Minarcik, J. Golden, I. Hurwitz, S. A. Liebhaber, and N. E. Cooke
Neurobeachin Is Essential for Neuromuscular Synaptic Transmission
J. Neurosci.,
April 7, 2004;
24(14):
3627 - 3636.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
N. Bidere, M. Briet, A. Durrbach, C. Dumont, J. Feldmann, B. Charpentier, G. de Saint-Basile, and A. Senik
Selective Inhibition of Dipeptidyl Peptidase I, Not Caspases, Prevents the Partial Processing of Procaspase-3 in CD3-activated Human CD8+ T Lymphocytes
J. Biol. Chem.,
August 23, 2002;
277(35):
32339 - 32347.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J.-W. Wang, J. Howson, E. Haller, and W. G. Kerr
Identification of a Novel Lipopolysaccharide-Inducible Gene with Key Features of Both a Kinase Anchor Proteins and chs1/beige Proteins
J. Immunol.,
April 1, 2001;
166(7):
4586 - 4595.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
