[CIS PIDD] [cis-pidd] PSTPIP1 deletion

[Dylan Mordaunt]

Hi all,

We are seeing a 23 mo male with episodic fevers since soon after birth,
failure to thrive, recurrent face and skin lesions which have been
considered to be boils and recurrent giardiasis (he lives in an extremely
remote area where this is endemic).

Sequencing of the InFevers genes showed no mutations, however a ~5 kb
deletion of PSTPIP1 involving the SH3 domain was detected on an exon array.
There do not appear to have been either nonsense mutations nor deletions of
PSTPIP1 reported, though this seems very likely to be pathogenic.

I'm wondering whether anyone in the list has a patient with a deletion and
whether they could provide insight into the evolution of the disorder and
response to therapy?

Kind regards,

Dylan


Dylan Mordaunt
Clinical and Metabolic Genetics Fellow
South Australian Clinical Genetics Service
Mobile: + 61 468 516 283
Email: d.a.mordaunt at gmail.com

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