WISCOTT ALDRICH SYNDROME IN A GIRL! WHAT IS THE MYSTERY?
(Abstract release date: 05/19/16)
EHA Library. Unal E. 06/09/16; 132984; E1435
Dr. Ekrem Unal
Contributions
Contributions
Abstract
Abstract: E1435
Type: Eposter Presentation
Background
Wiscott-Aldrich Syndrome (WAS) is an X-linked recessive inherited immunodeficiency; which is presented with micro-trombocytopenia, eczema, recurrent infections, and increased incidence of autoimmune diseases, and malignencies. WAS gene is located on the short arm of X chromosome, and encodes WAS protein (WASP). WASP is expressed in hematopoietic stem cell-lineages and responsible for cytoskeleton reorganization affecting the functions of T, B, NK- cell, granulocytes, dendritic cells and platelets. Mutation in the WAS gene ends up with X-linked thrombocytopenia (XLT) or classical WAS. The prevalence of WAS is, 1 in 100 thousand live births.
Aims
In this presentation we would like to share our experience about a girl diagnosed with WAS
Methods
A 7 year old female patient was followed with trombocytopenia since she was born. She had been hospitalized for recurrent infections, gastrointestinal bleedings, and CMV pneumonia. Bilateral ventilation tube regarding to persistent otitis media was also performed. Serum immunoglobulin levels were checked, Ig A and Ig E levels were increased, Ig M level was decreased and Ig G level was normal. Western blot studies confirmed the reduced WAS protein expression in peripheral mononuclear blood cells. The complete WAS gene was sequenced, one heterozygous mutation in Exon 7, leading to a premature stop codon p.G219*, c.655G>T was found.
Results
WAS is an X-linked recessive disorder, which is seen in male patients due to the transition. But, in case of X gene inactivation, it can also be presented in female patients.
Conclusion
The clinicians must be vigilant about the possibility of X linked diseases such as WAS in females.
Session topic: E-poster
Keyword(s): Chromosome, Female, Wiskott-Aldrich syndrome
Type: Eposter Presentation
Background
Wiscott-Aldrich Syndrome (WAS) is an X-linked recessive inherited immunodeficiency; which is presented with micro-trombocytopenia, eczema, recurrent infections, and increased incidence of autoimmune diseases, and malignencies. WAS gene is located on the short arm of X chromosome, and encodes WAS protein (WASP). WASP is expressed in hematopoietic stem cell-lineages and responsible for cytoskeleton reorganization affecting the functions of T, B, NK- cell, granulocytes, dendritic cells and platelets. Mutation in the WAS gene ends up with X-linked thrombocytopenia (XLT) or classical WAS. The prevalence of WAS is, 1 in 100 thousand live births.
Aims
In this presentation we would like to share our experience about a girl diagnosed with WAS
Methods
A 7 year old female patient was followed with trombocytopenia since she was born. She had been hospitalized for recurrent infections, gastrointestinal bleedings, and CMV pneumonia. Bilateral ventilation tube regarding to persistent otitis media was also performed. Serum immunoglobulin levels were checked, Ig A and Ig E levels were increased, Ig M level was decreased and Ig G level was normal. Western blot studies confirmed the reduced WAS protein expression in peripheral mononuclear blood cells. The complete WAS gene was sequenced, one heterozygous mutation in Exon 7, leading to a premature stop codon p.G219*, c.655G>T was found.
Results
WAS is an X-linked recessive disorder, which is seen in male patients due to the transition. But, in case of X gene inactivation, it can also be presented in female patients.
Conclusion
The clinicians must be vigilant about the possibility of X linked diseases such as WAS in females.
Session topic: E-poster
Keyword(s): Chromosome, Female, Wiskott-Aldrich syndrome
Abstract: E1435
Type: Eposter Presentation
Background
Wiscott-Aldrich Syndrome (WAS) is an X-linked recessive inherited immunodeficiency; which is presented with micro-trombocytopenia, eczema, recurrent infections, and increased incidence of autoimmune diseases, and malignencies. WAS gene is located on the short arm of X chromosome, and encodes WAS protein (WASP). WASP is expressed in hematopoietic stem cell-lineages and responsible for cytoskeleton reorganization affecting the functions of T, B, NK- cell, granulocytes, dendritic cells and platelets. Mutation in the WAS gene ends up with X-linked thrombocytopenia (XLT) or classical WAS. The prevalence of WAS is, 1 in 100 thousand live births.
Aims
In this presentation we would like to share our experience about a girl diagnosed with WAS
Methods
A 7 year old female patient was followed with trombocytopenia since she was born. She had been hospitalized for recurrent infections, gastrointestinal bleedings, and CMV pneumonia. Bilateral ventilation tube regarding to persistent otitis media was also performed. Serum immunoglobulin levels were checked, Ig A and Ig E levels were increased, Ig M level was decreased and Ig G level was normal. Western blot studies confirmed the reduced WAS protein expression in peripheral mononuclear blood cells. The complete WAS gene was sequenced, one heterozygous mutation in Exon 7, leading to a premature stop codon p.G219*, c.655G>T was found.
Results
WAS is an X-linked recessive disorder, which is seen in male patients due to the transition. But, in case of X gene inactivation, it can also be presented in female patients.
Conclusion
The clinicians must be vigilant about the possibility of X linked diseases such as WAS in females.
Session topic: E-poster
Keyword(s): Chromosome, Female, Wiskott-Aldrich syndrome
Type: Eposter Presentation
Background
Wiscott-Aldrich Syndrome (WAS) is an X-linked recessive inherited immunodeficiency; which is presented with micro-trombocytopenia, eczema, recurrent infections, and increased incidence of autoimmune diseases, and malignencies. WAS gene is located on the short arm of X chromosome, and encodes WAS protein (WASP). WASP is expressed in hematopoietic stem cell-lineages and responsible for cytoskeleton reorganization affecting the functions of T, B, NK- cell, granulocytes, dendritic cells and platelets. Mutation in the WAS gene ends up with X-linked thrombocytopenia (XLT) or classical WAS. The prevalence of WAS is, 1 in 100 thousand live births.
Aims
In this presentation we would like to share our experience about a girl diagnosed with WAS
Methods
A 7 year old female patient was followed with trombocytopenia since she was born. She had been hospitalized for recurrent infections, gastrointestinal bleedings, and CMV pneumonia. Bilateral ventilation tube regarding to persistent otitis media was also performed. Serum immunoglobulin levels were checked, Ig A and Ig E levels were increased, Ig M level was decreased and Ig G level was normal. Western blot studies confirmed the reduced WAS protein expression in peripheral mononuclear blood cells. The complete WAS gene was sequenced, one heterozygous mutation in Exon 7, leading to a premature stop codon p.G219*, c.655G>T was found.
Results
WAS is an X-linked recessive disorder, which is seen in male patients due to the transition. But, in case of X gene inactivation, it can also be presented in female patients.
Conclusion
The clinicians must be vigilant about the possibility of X linked diseases such as WAS in females.
Session topic: E-poster
Keyword(s): Chromosome, Female, Wiskott-Aldrich syndrome
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