|
|
 Previous Article | Table of Contents | Next Article 
Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two
unrelated males based on studies of maternal T cell X chromosome
inactivation [see comments]
JM Puck, KA Siminovitch, M Poncz, CR Greenberg, M Rottem and ME Conley
Department of Pediatrics, University of Pennsylvania, School of Medicine,
Philadelphia.
Congenital thrombocytopenia may occur in isolation or accompanied by eczema
and immunodeficiency, as part of the X-linked hereditary Wiskott- Aldrich
syndrome (WAS). Because the clinical and immunologic picture of WAS is
variable, particularly early in life, definite diagnosis cannot always be
made in cases with a negative family history. Two unrelated males with
sporadic congenital thrombocytopenia had only questionable immunologic
abnormalities as infants, making them clinically indistinguishable from
cases of isolated thrombocytopenia, although one developed episodic
neutropenia and the other began to manifest a multisystem autoimmune
disease at 2 years of age. Evaluation of X chromosome inactivation in the T
cells of both patients' mothers showed each of these women to have the same
highly skewed X chromosome inactivation pattern seen in carriers of typical
familial WAS. A T-cell defect was subsequently directly demonstrated in the
second patient, whose lymphocytes failed to proliferate to periodate and
anti-CD43. Taken together, these data suggest the presence of T cell
immunodeficiency consistent with WAS in these patients. Furthermore, their
mothers were found to have a very high likelihood of being carriers,
lending support to the diagnosis of a hereditary disease in these boys and
making possible genetic prediction in other family members and subsequent
pregnancies.
Volume 75,
Issue 12,
pp. 2369-2374,
06/15/1990
Copyright © 1990 by The American Society of Hematology
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
C. Lacout, E. Haddad, S. Sabri, F. Svinarchouk, L. Garcon, C. Capron, A. Foudi, R. Mzali, S. B. Snapper, F. Louache, et al.
A defect in hematopoietic stem cell migration explains the nonrandom X-chromosome inactivation in carriers of Wiskott-Aldrich syndrome
Blood,
August 15, 2003;
102(4):
1282 - 1289.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
W. H. Raskind, K. K. Niakan, J. Wolff, M. Matsushita, T. Vaughan, G. Stamatoyannopoulos, C. Watanabe, J. Rios, and H. D. Ochs
Mapping of a syndrome of X-linked thrombocytopenia with thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia
Blood,
April 1, 2000;
95(7):
2262 - 2268.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. W. Flake and E. D. Zanjani
In Utero Hematopoietic Stem Cell Transplantation: Ontogenic Opportunities and Biologic Barriers
Blood,
October 1, 1999;
94(7):
2179 - 2191.
[Full Text]
[PDF]
|
|
|
|
|
