Monoclonal gammopathy in the Wiskott-Aldrich syndrome

1974 ◽  
Vol 85 (2) ◽  
pp. 204-207 ◽  
Author(s):  
Robert M. Bruce ◽  
R. Michael Blaese
Keyword(s):  
Monoclonal Gammopathy ◽  
Wiskott Aldrich Syndrome

Monoclonal Gammopathy of Unclear Significance in a Child with Wiskott-Aldrich Syndrome: a Rare Occurrence

2019 ◽  
Vol 39 (1) ◽  
pp. 7-10
Author(s):  
Rashmi Rikhi ◽  
Sagar Bhattad ◽  
Ankur Jindal ◽  
Biman Saikia ◽  
Ravinder Garg ◽  
...  
Keyword(s):  
Monoclonal Gammopathy ◽  
Rare Occurrence ◽  
Wiskott Aldrich Syndrome

Epstein-Barr Virus-Associated Malignant Lymphoma with Macroamylasemia and Monoclonal Gammopathy in a Patient with Wiskott-Aldrich Syndrome

1997 ◽  
Vol 14 (1) ◽  
pp. 85-89 ◽  
Author(s):  
Kunie Yoshida ◽  
Yoshiyuki Minegishi ◽  
Hiroji Okawa ◽  
Jun-ichi Yata ◽  
Shinsuke Tokoi ◽  
...  
Keyword(s):  
Malignant Lymphoma ◽  
Monoclonal Gammopathy ◽  
Epstein Barr Virus ◽  
Wiskott Aldrich Syndrome ◽  
Barr Virus ◽  
Epstein Barr

Microparticles And Reticulated Platelets In Wiskott-Aldrich Syndrome Patients

2000 ◽  
Vol 109 (3) ◽  
pp. 673-673 ◽  
Author(s):  
A. Matzdorff ◽  
B. Kemkes-Matthes ◽  
H. Pralle
Keyword(s):  
Wiskott Aldrich Syndrome ◽  
Reticulated Platelets

Monoclonal gammopathy in lymphoma

1975 ◽  
Vol 135 (1) ◽  
pp. 62-66 ◽  
Author(s):  
R. Alexanian
Keyword(s):  
Monoclonal Gammopathy

Mutation Spectrum in Patients with Wiskott-Aldrich Syndrome and X-linked Thrombocytopenia: Identification of Twelve Different Mutations in the WASP Gene

1996 ◽  
Vol 75 (04) ◽  
pp. 546-550 ◽  
Author(s):  
Marianne Schwartz ◽  
Albert Békássy ◽  
Mikael Donnér ◽  
Thomas Hertel ◽  
Stefan Hreidarson ◽  
...  
Keyword(s):  
Base Pair ◽  
Hot Spot ◽  
Missense Mutations ◽  
Nucleotide Substitutions ◽  
Exon 2 ◽  
Wiskott Aldrich Syndrome ◽  
Base Pair Deletion ◽  
Reliable Diagnosis ◽  
Wasp Gene ◽  
Detection Of Mutations

SummaryTwelve different mutations in the WASP gene were found in twelve unrelated families with Wiskott-Aldrich syndrome (WAS) or X-linked thrombocytopenia (XLT). Four frameshift, one splice, one nonsense mutation, and one 18-base-pair deletion were detected in seven patients with WAS. Only missense mutations were found in five patients diagnosed as having XLT. One of the nucleotide substitutions in exon 2 (codon 86) results in an Arg to Cys replacement. Two other nucleotide substitutions in this codon, R86L and R86H, have been reported previously, both giving rise to typical WAS symptoms, indicating a mutational hot spot in this codon. The finding of mutations in the WASP gene in both WAS and XLT gives further evidence of these syndromes being allelic. The relatively small size of the WASP gene facilitates the detection of mutations and a reliable diagnosis of both carriers and affected fetuses in families with WAS or XLT.

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