Contributions
Abstract: PB2354
Type: Publication Only
Background
Wiskott-Aldrich Syndrome (WAS) is an inherited x-linked defect, with characteristic features of thrombocytopenia, eczema and recurrent infections that result from ineffectiveness of the immune system. Mutations in WASP gene lead to WAS; however, mutations in that gene could also be seen in non-syndromic conditions such as isolated thrombocytopenia or neutropenia.
Aims
This study was performed to highlight the importance of Wiskott-Aldrich syndrome and to emphasize the need to have this diagnosis in mind if encountering a patient with microthrombocytopenia and eczema.
Methods
Herein, four patients with mutations in WASP gene are presented, who were referred to the Primary Immunodeficiency Diseases Referral Clinic of Children’s Medical Center. Although direct sequencing of WASP gene was performed for three patients with classical phenotype of WAS, exome sequencing method was carried out for the remaining one, as his clinical phenotypes did not fulfil WAS criteria.
Results
One of the patients had initial signs of dysentery, eczema and petechiae at the age of 4 months; the diagnosis was immediately made, as his uncle had the diagnosis of WAS. He is under treatment with intravenous immunoglobulin (IVIG) and is awaiting a matching donor for hematopoietic stem cell transplantation (HSCT). Another one, who unfortunately passed away four months after HSCT, because of EBV infection of pharynx, had had the same initial presentations at the age of 6 months, but there had been a diagnosis lag of two and a half years before the confirmation of WAS diagnosis. The other two patients, on the other hand, did not initially have any clinical presentations and low platelet count was discovered during a routine check-up. They were diagnosed with autoimmune thrombocytopenia (ITP) at first and there was a 1.5 and a 9 year diagnosis lag. They are also under treatment with IVIG since diagnosis. The first recorded platelet count for these four patients varied from under 10,000 to 90,000. The mutations found in 3 of the patients were already known mutations in WASP gene, including c.121 C>T, c.91G>A, c.397 G>A. However, a novel mutation was detected in the 4th patient.
Conclusion
We wish to call attention to this uncommon, yet highly important disease. Although small size platelets and thrombocytopenia associated with recurrent infections and eczema make a suspicion of WAS, mutations in WASP gene should also be considered in those with isolated thrombocytopenia as well. It seems that there is still a long way from fully comprehending the genetics underlying the disease and there is plenty of scope for more research on therapeutic approached.
Session topic: 33. Platelets disorders
Keyword(s): mutation analysis, Thrombocytopenia, WASP, Wiskott-Aldrich syndrome
Abstract: PB2354
Type: Publication Only
Background
Wiskott-Aldrich Syndrome (WAS) is an inherited x-linked defect, with characteristic features of thrombocytopenia, eczema and recurrent infections that result from ineffectiveness of the immune system. Mutations in WASP gene lead to WAS; however, mutations in that gene could also be seen in non-syndromic conditions such as isolated thrombocytopenia or neutropenia.
Aims
This study was performed to highlight the importance of Wiskott-Aldrich syndrome and to emphasize the need to have this diagnosis in mind if encountering a patient with microthrombocytopenia and eczema.
Methods
Herein, four patients with mutations in WASP gene are presented, who were referred to the Primary Immunodeficiency Diseases Referral Clinic of Children’s Medical Center. Although direct sequencing of WASP gene was performed for three patients with classical phenotype of WAS, exome sequencing method was carried out for the remaining one, as his clinical phenotypes did not fulfil WAS criteria.
Results
One of the patients had initial signs of dysentery, eczema and petechiae at the age of 4 months; the diagnosis was immediately made, as his uncle had the diagnosis of WAS. He is under treatment with intravenous immunoglobulin (IVIG) and is awaiting a matching donor for hematopoietic stem cell transplantation (HSCT). Another one, who unfortunately passed away four months after HSCT, because of EBV infection of pharynx, had had the same initial presentations at the age of 6 months, but there had been a diagnosis lag of two and a half years before the confirmation of WAS diagnosis. The other two patients, on the other hand, did not initially have any clinical presentations and low platelet count was discovered during a routine check-up. They were diagnosed with autoimmune thrombocytopenia (ITP) at first and there was a 1.5 and a 9 year diagnosis lag. They are also under treatment with IVIG since diagnosis. The first recorded platelet count for these four patients varied from under 10,000 to 90,000. The mutations found in 3 of the patients were already known mutations in WASP gene, including c.121 C>T, c.91G>A, c.397 G>A. However, a novel mutation was detected in the 4th patient.
Conclusion
We wish to call attention to this uncommon, yet highly important disease. Although small size platelets and thrombocytopenia associated with recurrent infections and eczema make a suspicion of WAS, mutations in WASP gene should also be considered in those with isolated thrombocytopenia as well. It seems that there is still a long way from fully comprehending the genetics underlying the disease and there is plenty of scope for more research on therapeutic approached.
Session topic: 33. Platelets disorders
Keyword(s): mutation analysis, Thrombocytopenia, WASP, Wiskott-Aldrich syndrome