[PAGID] WAS with normal mpv

[Rohan Ameratunga]

Dear Colleagues,

 

We would like your advice on two brothers with WAS, one aged 3 yrs and
other 18 months.  The older child presented with severe thrombocytopenia
(platelets <10) and severe eczema.  He had otitis media.  No visceral/
deep seated infections.  The younger boy was born with similar symptoms
and had one intracerebral bleed.

 

After discussion we performed mutation analysis and both have an E133K
mutation, suggesting a severe WAS phenotype.

 

What is very unusual is that both have had persistently normal mpvs
(7.5-8 FL)

 

Both have been transplanted.  The older one had a MUD while the younger
one had his mother's marrow.

 

Patients with mutations of the CDC42 region of WASP can have normal mpvs
but the phenotype is completely different from classical WAS. 

 

We would like to further investigate why these WAS children have a
normal mpv.  Our review of the literature has not explained why the mpv
is so low in WAS.  

We have considered a reversion event but this would be unlikely in two
individuals.

 

I have already discussed these children with several former North
American colleagues.  Thanks for their responses.  

 

Any other thoughts would be very much appreciated.

 

I am copying this to the family's peds haematologist in case any other
clinical details are needed. 

 

Best regards

 

Rohan Ameratunga

Adult and paediatric immunologist

Auckland

NEW ZEALAND

	

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