[CIS PIDD] [cis-pidd] PSTPIP1 deletion

[Verbsky, James]

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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