Wiskott-Aldrich Syndrome Presenting with JMML-Like Blood Picture and Normal Sized Platelets

Abstract

Objective. The aim of this paper is to report the case of Wiskott-Aldrich syndrome (WAS) that presented with unusual laboratory features. Clinical Presentation and Intervention. Male neonate admitted with symptoms related to thrombocytopenia, whose initial diagnosis was considered as neonatal alloimmune thrombocytopenia and JMML (juvenile myelomonocytic leukemia) but subsequently diagnosis was confirmed as WAS. Conclusion. This case shows that a suspicion of WAS is warranted in the setting of neonatal thrombocytopenia with JMML-like blood picture and normal sized platelets.

A Novel Mutation In A Child With Atypical Wiskott-Aldrich Syndrome Complicated by Cytomegalovirus Infection

“…Physical examination revealed widespread eczema. a somatic mutation concomitant with RAS pathway mutations [1,2,3,4,5]. Based on these considerations, we believe that CMV infection was responsible for our patient developing a JMMLlike clinical picture and immune cytopenia.…”

“…As we observed in our case, this clinical picture is indistinguishable from JMML. Affected patients may have variable clinical presentations due to disease-modifying genetic factors and different exposure to pathogens [2,3,4]. The causes of JMMLlike features in WAS patients are poorly understood.…”

A Novel Mutation in a Child with Atypical Wiskott-Aldrich Syndrome Complicated by Cytomegalovirus Infection

“…As we observed in our case, this clinical picture is indistinguishable from JMML. Affected patients may have variable clinical presentations due to disease-modifying genetic factors and different exposure to pathogens [2,3,4]. The causes of JMML-like features in WAS patients are poorly understood.…”

Somatic mutations activating Wiskott-Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients

“…Different studies reported that male patients bearing constitutive mutations affecting functional WASP expression presented juvenile myelomonocytic leukemia (JMML)‐like clinical features (Patil et al., ; Sano et al., ; Yoshimi et al., ). In all these cases, WASP constitutional mutations and lack of protein expression confirmed the diagnosis of WAS in the absence of JMML driving RAS pathway activating mutations (Patil et al., ; Sano et al., ; Yoshimi et al., ).…”

“…(Ser272Pro), and p.(Ile294Thr)) (Ancliff et al, 2006;Beel et al, 2009;Devriendt et al, 2001) clustered within the GTPase binding domain of WASP have been shown to cause loss of the protein autoinhibitory conformation and the unmasking of the Arp2/3 complex binding site, thus fostering aberrant actin polymerization and mitosis defects that eventually results in apoptosis (Moulding et al, 2007). Different studies reported that male patients bearing constitutive mutations affecting functional WASP expression presented juvenile myelomonocytic leukemia (JMML)-like clinical features (Patil et al, 2016;Sano et al, 2012;Yoshimi et al, 2013). In all these cases, WASP constitutional mutations and lack of protein expression confirmed the diagnosis of WAS in the absence of JMML driving RAS pathway activating mutations (Patil et al, 2016;Sano et al, 2012;Yoshimi et al, 2013).…”