BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China, an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed. OBJECTIVES: The objectives of study were to review the clinical and molecular characteristics of a cohort of Chinese children with WAS and to describe the long-term outcome of those who underwent hematopoietic stem cell transplant (HSCT). MATERIALS AND METHOD: Records of 35 patients diagnosed with WAS during 1991-2008 were reviewed. Genetic diagnosis was established by direct gene sequencing. RESULTS: All patients had classical WAS phenotype. WASP mutations were identified in 33 patients from 29 families. Nine patients underwent HSCT at a mean age of 22.1 months (match-unrelated donor, n = 5; mismatched related donor, n = 2; matched-sibling donor, n = 2). Post-transplant immune hemolytic anemia and thrombocytopenia occurred in three patients with complete resolution. All patients survived without significant long-term complications and had full platelet, T and B lymphocyte recovery within 2 years post-transplant. CONCLUSION: In the past decade, there has been significant improvement in clinical and genetic diagnosis of WAS in Chinese. We demonstrated excellent long-term survival in patients who underwent HSCT. Early workup for transplant should be advocated for children with classical WAS before they suffer from major disease complications and morbidities.
BACKGROUND:Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China, an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed. OBJECTIVES: The objectives of study were to review the clinical and molecular characteristics of a cohort of Chinese children with WAS and to describe the long-term outcome of those who underwent hematopoietic stem cell transplant (HSCT). MATERIALS AND METHOD: Records of 35 patients diagnosed with WAS during 1991-2008 were reviewed. Genetic diagnosis was established by direct gene sequencing. RESULTS: All patients had classical WAS phenotype. WASP mutations were identified in 33 patients from 29 families. Nine patients underwent HSCT at a mean age of 22.1 months (match-unrelated donor, n = 5; mismatched related donor, n = 2; matched-sibling donor, n = 2). Post-transplant immune hemolytic anemia and thrombocytopenia occurred in three patients with complete resolution. All patients survived without significant long-term complications and had full platelet, T and B lymphocyte recovery within 2 years post-transplant. CONCLUSION: In the past decade, there has been significant improvement in clinical and genetic diagnosis of WAS in Chinese. We demonstrated excellent long-term survival in patients who underwent HSCT. Early workup for transplant should be advocated for children with classical WAS before they suffer from major disease complications and morbidities.
Authors: Hulya Ozsahin; Marina Cavazzana-Calvo; Luigi D Notarangelo; Ansgar Schulz; Adrian J Thrasher; Evelina Mazzolari; Mary A Slatter; Francoise Le Deist; Stephane Blanche; Paul Veys; Anders Fasth; Robbert Bredius; Petr Sedlacek; Nico Wulffraat; Juan Ortega; Carsten Heilmann; Anne O'Meara; Jacek Wachowiak; Krzysztof Kalwak; Susanne Matthes-Martin; Tayfun Gungor; Aydan Ikinciogullari; Paul Landais; Andrew J Cant; Wilhelm Friedrich; Alain Fischer Journal: Blood Date: 2007-09-27 Impact factor: 22.113
Authors: Koon-Wing Chan; Chung-Yin Wong; Daniel Leung; Xingtian Yang; Susanna F S Fok; Priscilla H S Mak; Lei Yao; Wen Ma; Huawei Mao; Xiaodong Zhao; Weiling Liang; Surjit Singh; Mohamed-Ridha Barbouche; Jian-Xin He; Li-Ping Jiang; Woei-Kang Liew; Minh Huong Thi Le; Dina Muktiarti; Fatima Johanna Santos-Ocampo; Reda Djidjik; Brahim Belaid; Intan Hakimah Ismail; Amir Hamzah Abdul Latiff; Way Seah Lee; Tong-Xin Chen; Jinrong Liu; Runming Jin; Xiaochuan Wang; Yin Hsiu Chien; Hsin-Hui Yu; Dinesh Raj; Revathi Raj; Jenifer Vaughan; Michael Urban; Sylvia van den Berg; Brian Eley; Anselm Chi-Wai Lee; Mas Suhaila Isa; Elizabeth Y Ang; Bee Wah Lee; Allen Eng Juh Yeoh; Lynette P Shek; Nguyen Ngoc Quynh Le; Van Anh Thi Nguyen; Anh Phan Nguyen Lien; Regina D Capulong; Joanne Michelle Mallillin; Jose Carlo Miguel M Villanueva; Karol Anne B Camonayan; Michelle De Vera; Roxanne J Casis-Hao; Rommel Crisenio M Lobo; Ruby Foronda; Vicky Wee Eng Binas; Soraya Boushaki; Nadia Kechout; Gun Phongsamart; Siriporn Wongwaree; Chamnanrua Jiratchaya; Mongkol Lao-Araya; Muthita Trakultivakorn; Narissara Suratannon; Orathai Jirapongsananuruk; Teerapol Chantveerawong; Wasu Kamchaisatian; Lee Lee Chan; Mia Tuang Koh; Ke Juin Wong; Siew Moy Fong; Meow-Keong Thong; Zarina Abdul Latiff; Lokman Mohd Noh; Rajiva de Silva; Zineb Jouhadi; Khulood Al-Saad; Pandiarajan Vignesh; Ankur Kumar Jindal; Amit Rawat; Anju Gupta; Deepti Suri; Jing Yang; Elaine Yuen-Ling Au; Janette Siu-Yin Kwok; Siu-Yuen Chan; Wayland Yuk-Fun Hui; Gilbert T Chua; Jaime Rosa Duque; Kai-Ning Cheong; Patrick Chun Yin Chong; Marco Hok Kung Ho; Tsz-Leung Lee; Wilfred Hing-Sang Wong; Wanling Yang; Pamela P Lee; Wenwei Tu; Xi-Qiang Yang; Yu Lung Lau Journal: Front Immunol Date: 2022-07-08 Impact factor: 8.786