Wiskott-Aldrich syndrome with macrothrombocytopenia

Škorić, Dejan; Dimitrijević, Aleksandar; Čuturilo, Goran; Ivanovski, Petar

doi:10.1007/s13312-014-0550-5

Cited by 13 publications

(10 citation statements)

References 8 publications

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“…increased platelet-derived micro-particles in WAS patients. 11 When compared to the previous studies which reported patients with normal MPV, 6,7,9,11 our patient had a mutation in the same exon reported by Skoric, et al, 9 but a different exon compared to the other 2 reports (exons 7, 9). 6,7 Thus the WAS diagnosis should consider even when patients have normal MPV, and there are no genotype-phenotype correlation.…”

Section: Report Of Casesupporting

confidence: 48%

“…Although micro-thrombocytopenia is one of the hallmarks of WAS, previous studies reported that XLT 6 and classic WAS 7 patients could have normal-sized or even giant-sized platelets. 9 The current theory regarding the mechanism of thrombocytopenia in WAS patients is explained by increased destruction of platelets in the spleen. 10 However, the mechanism of micro-thrombocytopenia in WAS remains poorly understood.…”

Section: Discussionmentioning

confidence: 99%

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A novel mutation of WAS gene in a boy with Mycobacterium bovis infection at spleen

Pacharn

Boonyawat

Tantemsapya

et al. 2016

Asian Pac J Allergy Immunol

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Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder caused by mutations of the gene encoding WAS protein (WASp). A scoring system has been used to grade severity of the disease. However, the phenotype of the disease may progress over time, especially in children younger than 2 years of age. Here, we report a male child who presented with X-linked thrombocytopenia (XLT). Mutation analysis revealed a novel hemizygous 13-bp deletion (c.181_193delGCTGAGCACTGGA) on exon 2 of the WAS gene. This frameshift mutation resulted in a premature terminating codon at position 71 (p.A61fsX10). Molecular analysis of maternal DNA revealed a heterozygosity of the same mutation. The disease progressed to classic WAS within 8 months. Later, gastric varices as a consequence of Mycobacterium bovis infection in the spleen was detected. The rapid worsening of the disease may be due to the severe genotype of this patient.

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Section: Report Of Casesupporting

confidence: 48%

Section: Discussionmentioning

confidence: 99%

A novel mutation of WAS gene in a boy with Mycobacterium bovis infection at spleen

Pacharn

Boonyawat

Tantemsapya

et al. 2016

Asian Pac J Allergy Immunol

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“…Nevertheless, it is not always the case that patients with WAS have small platelets. Cases of WAS have been described with normal ( 13 , 14 ) or even increased ( 15 ) MPV. Furthermore, platelet size in one WAS patient was reported to vary over time with the dose of immunoglobulin replacement ( 16 ).…”

Section: Introductionmentioning

confidence: 99%

Assessment of Immature Platelet Fraction in the Diagnosis of Wiskottâ€“Aldrich Syndrome

2015

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Children with Wiskott–Aldrich syndrome (WAS) are often first diagnosed with immune thrombocytopenia (ITP), potentially leading to both inappropriate treatment and the delay of life-saving definitive therapy. WAS is traditionally differentiated from ITP based on the small size of WAS platelets. In practice, microthrombocytopenia is often not present or not appreciated in children with WAS. To develop an alternative method of differentiating WAS from ITP, we retrospectively reviewed all complete blood counts and measurements of immature platelet fraction (IPF) in 18 subjects with WAS and 38 subjects with a diagnosis of ITP treated at our hospital. Examination of peripheral blood smears revealed a wide range of platelet sizes in subjects with WAS. Mean platelet volume (MPV) was not reported in 26% of subjects, and subjects in whom MPV was not reported had lower platelet counts than did subjects in whom MPV was reported. Subjects with WAS had a lower IPF than would be expected for their level of thrombocytopenia, and the IPF in subjects with WAS was significantly lower than in subjects with a diagnosis of ITP. Using logistic regression, we developed and validated a rule based on platelet count and IPF that was more sensitive for the diagnosis of WAS than was the MPV, and was applicable regardless of the level of platelets or the availability of the MPV. Our observations demonstrate that MPV is often not available in severely thrombocytopenic subjects, which may hinder the diagnosis of WAS. In addition, subjects with WAS have a low IPF, which is consistent with the notion that a platelet production defect contributes to the thrombocytopenia of WAS. Knowledge of this detail of WAS pathophysiology allows to differentiate WAS from ITP with increased sensitivity, thereby allowing a physician to spare children with WAS from inappropriate treatment, and make definitive therapy available in a timely manner.

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“…Por outro lado, macroplaquetas foram observadas em 2 pacientes (11,1%). Skoric et al (2014) (SULLIVAN et al, 1994;OCHS et al, 2006;AMARINTHNUKROWH et al, 2012). As hemorragias mais frequentes foram petéquias, sangramento intestinal e urinário.…”

Section: Resultsunclassified

“…Até o momento, já foram descritos 8 hotspots no gene WAS, que foram definidos como mutações idênticas ou missense em mesmo ou aumentado. É importante ressaltar que a ausência de microplaquetas não descarta o diagnóstico(PATEL et al, 2011;SKORIC et al, 2014;YOONESSI et al, 2015).…”

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Características clínicas e genéticas de pacientes brasileiros com a Síndrome de Wiskott-Aldrich

Castro¹

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Aos meus avós, Ruy e Mercês, que sempre estiveram onipresentes durante toda a minha jornada acadêmica. Aos meus pais e irmã, pelo suporte que me permitiu alcançar todos meus objetivos acadêmicos. Ao meu marido, pela companhia e compreensão durante os períodos de ausência e por me fornecer uma nova família, com nossos filhos; Ao meu orientador e à toda equipe de Alergia e Imunologia da FMRP: Professores, médicos assistentes e residentes, pelos votos de incentivo e pela ajuda ao longo dessa caminhada, em especial à Paula, colega de residência e de pós-graduação; À equipe do Laboratório de Biologia Molecular, em especial Rosane, Veridiana, Beth, Kleiton, Régia e Luciana, que foram essenciais para a obtenção dos resultados dessa dissertação. Palavras-chave: Síndromes de deficiência imunológica. Genótipo. Imunologia clínica ABSTRACT Castro MEPC. Clinical and genetic characteristics of Brazilian patients with

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Wiskott-Aldrich syndrome with macrothrombocytopenia

Abstract: This is a need for multidisciplinary assessment of patients with congenital or early infantile thrombocytopenia, including testing for mutations of the WAS gene in all unexplained cases even in the absence of characteristic microthrombocytopenia.

Cited by 13 publications

References 8 publications

A novel mutation of WAS gene in a boy with Mycobacterium bovis infection at spleen

A novel mutation of WAS gene in a boy with Mycobacterium bovis infection at spleen

Assessment of Immature Platelet Fraction in the Diagnosis of Wiskottâ€“Aldrich Syndrome

Características clínicas e genéticas de pacientes brasileiros com a Síndrome de Wiskott-Aldrich

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