Clinical and Molecular Characteristics of 35 Chinese Children with Wiskott–Aldrich Syndrome

Lee, Pamela; Chen, Tongxin; Jiang, Liping; Chen, Jing; Chan, Koon-Wing; Lee, Tze-Leung; Ho, Marco H. K.; Nong, Shao-Han; Yang, Yonggang; Fang, Yongjun; Li, Qiang; Wang, Xiaochun; Yang, Xiaomin; Lau, Yu‐Lung

doi:10.1007/s10875-009-9285-9

Cited by 21 publications

(25 citation statements)

References 25 publications

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“…The first manifestation in most cases was bleeding, with bloody stool being the most common one. The 24 patients of WAS all exhibited recurrent infections, among which diarrhea and respiratory tract infection were the most common forms; besides, suppurative otitis externa, skin infections, septicemia, and perianal abscesses were also frequently observed, consistent with previous studies (14–16). Of various forms of bleeding in the patients with WAS, bloody stool and skin petechiae accounted for an overwhelming proportion.…”

Section: Discussionsupporting

confidence: 87%

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Analysis of clinical and molecular characteristics of Wiskott–Aldrich syndrome in 24 patients from 23 unrelated Chinese families

Zhang¹,

Xiao²,

Jiang³

et al. 2010

Pediatric Allergy Immunology

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The clinical data of 24 children with Wiskott-Aldrich syndrome (WAS) from 23 unrelated Chinese families were reviewed in the present study. WAS protein (WASP) expression in peripheral blood mononuclear cells was examined by flow cytometry (FCM); WASP gene was amplified by PCR and directly sequenced to analyze mutations in the WASP gene in patients and their female relatives. FCM analysis of 21 patients showed that 18 cases were WASP-negative, and three had partially WASP expression. WASP gene analysis revealed mutations in 23 patients, including five missense mutations, four nonsense mutations, four deletion mutations, three insertion mutations, six splice site mutations, and one complex mutation, among which, 20 unique mutations were detected, including seven novel mutations (168 C>A, 747-748del T, 793-797del C, 1185 ins C, Dup 1251-1267, 1277 insA and 1266 C>G; 1267-1269del C). Five WAS children underwent stem cell transplantation. After 2 months of transplantation, WASP expression was restored to normal in all five patients whereas one patient died of cytomegalovirus-induced interstitial lung disease. WASP gene analysis can make a definite diagnosis of WAS and identify mutation carriers, beneficial for timely treatment and genetic counseling for children with WAS.

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Section: Discussionsupporting

confidence: 87%

“…Most studies have shown that missense mutations are typically located in exons 1, 2, 3, and 4 (14, 15). In the present study, of the five missense mutations, four lied in exon 2 except for one in exon 11, similar to that reported in many previous studies.…”

Section: Discussionmentioning

confidence: 99%

Analysis of clinical and molecular characteristics of Wiskott–Aldrich syndrome in 24 patients from 23 unrelated Chinese families

Zhang¹,

Xiao²,

Jiang³

et al. 2010

Pediatric Allergy Immunology

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“…We identified 35 WAS patients with proven mutations of a wide spectrum distributed across different domains of the WAS gene (46), in contrast to a previous report from Taiwan in which majority of mutations involved exon 1 (56). Together with another recent series from Chongqing (57), R41X and R211X were recurrent mutations and both were known to be mutation hotspots.…”

Section: Wiskott-aldrich Syndromementioning

confidence: 61%

Primary Immunodeficiencies: “New” Disease in an Old Country

Lee

Lau

2009

Cell Mol Immunol

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“…When long-term survivors of HSCT were evaluated 88% of HLA-identical and 38% of HLA-non-identical HSCT receivers exhibited normal autoimmunity [30]. The only curative therapy for WAS is early HSCT, even from alternative donors, before development of autoimmune complications and severe infections [31]. Although transplants from HLA-matched sibling donors have the best outcomes (81%-88% event-free survival), a matched unrelated donor also should be considered (71% event-free survival); results are best in patients <5 years [32].…”

Section: Sarper Et Al Autoimmune Hemolytic Anemia In Children and Admentioning

confidence: 99%

Management of autoimmune hemolytic anemia in children and adolescents: A single center experience

Sarper¹,

Kılıç²,

Zengin³

et al. 2011

Turk J Hematol

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Objective: To present and discuss the treatment of autoimmune hemolytic anemia (AIHA). Materials and Methods: The medical records of all patients (n=19) diagnosed in a tertiary hematology center between 1999 and 2010 were retrospectively reviewed. Results: Median age at diagnosis of AIHA was 5 years (range: 4 months-17 years). In all, 13 patients had primary (idiopathic) AIHA, whereas 2 had primary Evans Syndrome (ES), 2 had autoimmune lymphoproliferative syndrome (ALPS)+ES, and 1 had Wiskott-Aldrich syndrome (WAS)+AIHA. Among the 13 primary idiopathic AIHA patients, 9 recovered following a 4-8-week course of prednisolone treatment without relapses, whereas 3 patients required a longer course of prednisolone. One AIHA patient that was very resistant to prednisolone recovered after cyclosporine A was added to the treatment. All patients with primary idiopathic AIHA were in remission for a median of 3 years (range: 4 months-10 years) at the time this manuscript was written. Among the patients with primary ES, 2 had relapses similar to the ALPS patients. Splenectomy was performed in 1 primary ES patient, who at the time this report was written was also in remission. One ALPS patient required the addition of mycophenolate mofetil due to prednisolone resistance. The WAS patient was treatment resistant and died due to septicemia. Conclusions: Primary AIHA in pediatric patients generally has an acute onset and good response to corticosteroids. Primary or secondary ES has a chronic or relapsing course, and treatment may require other immunosuppressive agents in addition to corticosteroids. Complications of splenectomy must not be underestimated in patients with underlying immunodeficiency. AIHA often causes considerable morbidity and mortality in WAS. (Turk J Hematol 2011; 28: 198-205)

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Clinical and Molecular Characteristics of 35 Chinese Children with Wiskott–Aldrich Syndrome

Cited by 21 publications

References 25 publications

Analysis of clinical and molecular characteristics of Wiskott–Aldrich syndrome in 24 patients from 23 unrelated Chinese families

Analysis of clinical and molecular characteristics of Wiskott–Aldrich syndrome in 24 patients from 23 unrelated Chinese families

Primary Immunodeficiencies: “New” Disease in an Old Country

Management of autoimmune hemolytic anemia in children and adolescents: A single center experience

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