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3. Intermittent X-linked thrombocytopenia with a novel WAS gene mutation

Author

Wada, Taizo, Itoh, Masatsune, Maeba, Hideaki, Toma, Tomoko, Niida, Yo, Saikawa, Yutaka, Yachie, Akihiro, Wada, Taizo, Itoh, Masatsune, Maeba, Hideaki, Toma, Tomoko, Niida, Yo, Saikawa, Yutaka, and Yachie, Akihiro

Abstract

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.

Published
2017

4. Intermittent X-linked thrombocytopenia with a novel WAS gene mutation

Author

Wada, Taizo, Itoh, Masatsune, Maeba, Hideaki, Toma, Tomoko, Niida, Yo, Saikawa, Yutaka, and Yachie, Akihiro

Subjects
Intermittent thrombocytopenia, hemic and lymphatic diseases, Wiskott-Aldrich syndrome, Missense mutation, macromolecular substances, WASp, X-linked thrombocytopenia
Abstract

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.

Published
2014

6. Increased expression of epidermal thymic stromal lymphopoietin in inflammatory peeling skin syndrome

Author

Wada, Taizo, Toma, Tomoko, Muraoka, Masahiro, Matsuda, Yusuke, and Yachie, Akihiro

Subjects
chemistry.chemical_classification, Pathology, medicine.medical_specialty, Thymic stromal lymphopoietin, business.industry, Dermatology, General Medicine, medicine.disease, Infant newborn, Peeling skin syndrome, chemistry, medicine, Immunohistochemistry, Glycoprotein, business
Published
2014
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16. Skin infiltration of CD56brightCD16-natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations

Author

Shibata, Fumie, primary, Toma, Tomoko, additional, Wada, Taizo, additional, Inoue, Masayuki, additional, Tone, Yumi, additional, Ohta, Kazuhide, additional, Kasahara, Yoshihito, additional, Sano, Fumie, additional, Kimura, Mitsuaki, additional, Ikeno, Mitsuru, additional, Koizumi, Shoichi, additional, and Yachie, Akihiro, additional

Published
2007
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