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Intermittent X-linked thrombocytopenia with a novel WAS gene mutation
Pediatric blood & cancer, 2014-04, Vol.61 (4), p.746-748
Wada, Taizo
Itoh, Masatsune
Maeba, Hideaki
Toma, Tomoko
Niida, Yo
Saikawa, Yutaka
Yachie, Akihiro
2014
Details
Autor(en) / Beteiligte
Wada, Taizo
Itoh, Masatsune
Maeba, Hideaki
Toma, Tomoko
Niida, Yo
Saikawa, Yutaka
Yachie, Akihiro
Titel
Intermittent X-linked thrombocytopenia with a novel WAS gene mutation
Ist Teil von
Pediatric blood & cancer, 2014-04, Vol.61 (4), p.746-748
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2014
Link zum Volltext
Quelle
Alma/SFX Local Collection
Beschreibungen/Notizen
X‐linked thrombocytopenia (XLT) is caused by mutations in the WAS gene and characterized by thrombocytopenia with minimal or no immunodeficiency. Patients with XLT usually exhibit persistent thrombocytopenia, and intermittent thrombocytopenia has been described only in two families. Here, we report a patient with intermittent XLT carrying a novel missense mutation (Ala56Thr). He showed residual expression of Wiskott–Aldrich syndrome protein in the lymphocytes and platelets. There appeared to be an association between normal platelet numbers and a post infectious state. Our findings further support the importance of analysis of Wiskott–Aldrich syndrome protein in male patients who exhibit fluctuating courses of thrombocytopenia. Pediatr Blood Cancer 2014;61:746–748. © 2013 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1545-5009
eISSN: 1545-5017
DOI: 10.1002/pbc.24787
Titel-ID: cdi_crossref_primary_10_1002_pbc_24787
Format
–
Schlagworte
Blood Platelets - metabolism
,
Blood Platelets - pathology
,
Child, Preschool
,
Genetic Diseases, X-Linked - genetics
,
Genetic Diseases, X-Linked - pathology
,
Hematology
,
Humans
,
intermittent thrombocytopenia
,
Lymphocytes - metabolism
,
Lymphocytes - pathology
,
Male
,
missense mutation
,
Mutation, Missense - genetics
,
Oncology
,
Pediatrics
,
Prognosis
,
Thrombocytopenia - genetics
,
Thrombocytopenia - pathology
,
WASp
,
Wiskott-Aldrich syndrome
,
Wiskott-Aldrich Syndrome Protein - genetics
,
X-linked thrombocytopenia
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