[CIS PIDD] [cis-pidd] PSTPIP1 deletion

[Dylan Mordaunt]

Dear James, thank you. The deletion was heterozygous and we're yet to test
the parents.

Cheers,

Dylan

Dylan Mordaunt
Mobile: + 61 468 516 283
Email: d.a.mordaunt at gmail.com

On 7 January 2015 at 16:54, Verbsky, James <jverbsky at mcw.edu> wrote:

> Dylan
>
> Sounds fairly convincing.  Was the mutation a homozygous deletion?
>
> Anakinra might be a good choice as this has been reported to be effective.
>
>
> Best
>
> James
>
> James Verbsky MD/PhD
> Associate Professor of Pediatrics
> Departments of Pediatrics and Microbiology
> Medical Director, Clinical Immunology Research Laboratory
> Medical Director, Clinical and Translational Research
> Medical College of Wisconsin/Children’s Hospital of Wisconsin
> Milwaukee, WI  53226
>
> From: Dylan Mordaunt <d.a.mordaunt at gmail.com<mailto:d.a.mordaunt at gmail.com
> >>
> Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:
> cis-pidd at lists.clinimmsoc.org>>
> Date: Tuesday, January 6, 2015 at 9:32 PM
> To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:
> cis-pidd at lists.clinimmsoc.org>>
> Subject: [cis-pidd] PSTPIP1 deletion
>
> 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<mailto:d.a.mordaunt at gmail.com>
>
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