[CIS PIDD] [cis-pidd] Help expanding a patient cohort

[CIS-PIDD]

Yes I have such patients and despite extensive gene screening, have come up empty-handed, so I know I am missing the causes.

Erwin W. Gelfand, M.D.
Department of Pediatrics
National Jewish Health
1400 Jackson Street
Denver, CO 80206
Ph: 303-398-1196
Fax: 303-270-2105
E-mail: gelfande at njhealth.org<mailto:gelfande at njhealth.org>


From: <cis-pidd at lyris.dundee.net> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Date: Monday, 4 December 2017 at 06:41
To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Cc: Michael lenardo <mlenardo at niaid.nih.gov>
Subject: [cis-pidd] Help expanding a patient cohort

Good Morning!

I am writing on behalf of some colleagues who are hoping to identify more patients with a similar phenotype to one for which they have recently identified a novel gene mutation and mechanism of disease.
The patient is a 7-year-old Turkish male born to consanguineous parents with recurrent respiratory infections, pneumatoceles, elevated IgE in the 600s, and mild hepatosplenomegaly. His infection history is notable for recurrent sinopulmonary infections starting around 3 months of age. He has significant bilateral pneumatoceles, and his lung imaging is similar to what we see in our Job’s syndrome patients, but his STAT3 testing is normal. He has no atopic manifestations. Other family history is remarkable for a paternal aunt who passed away from varicella at 4 months of age and another paternal aunt who passed away at 2 years of age from unknown causes. Maternal family history is unknown. Overall, his labs are unremarkable with the exception of the elevated IgE level.
 If anyone has any patients with a similar phenotype I know my colleagues would be very interested, and I would be happy to facilitate further discussions.

Thank you!
Jenna Bergerson

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Jenna Bergerson, MD, MPH
Staff Clinician
NIH/NIAID
Laboratory of Clinical Infectious Diseases, NIAID

Phone: 301-761-6276
Fax: 301-480-8384

9000 Rockville Pike
Bldg. 10, Room 11N244A MSC 1960
Bethesda, MD 20892

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