[CIS PIDD] [cis-pidd] WAS variant

[CIS-PIDD]

Colleagues:

I follow a 12yo boy with mild infectious history, low IgG (577mg/dL), low IgA (37), and borderline response to Pneumovax (11/23 > 1.3).

I sent a CVID gene panel to one of our colleagues.  This identified a mutation (p.V332A) in WAS that has been reported previously to cause XLT.

But, the patient has never demonstrated a reduction in platelet count (usually ~300k), and has had no bleeding issues.

Does anyone have an explanation for this?  Is anyone seeing this type of finding with other 'pathogenic' variants?

Thank you for your time.

Joe Church
Children's Hospital Los Angeles

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