[CIS-PAGID] ? Combined Immune Deficiency

[Belohradsky, Bernd]

PNP-deficiency ? has he a low uric acid level ?
Bernd 

-----Ursprüngliche Nachricht-----
Von: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] Im Auftrag von Freeman, Alexandra (NIH/NIAID) [E]
Gesendet: Mittwoch, 15. Dezember 2010 03:08
An: pagid at list.clinimmsoc.org
Betreff: Re: [CIS-PAGID] ? Combined Immune Deficiency

Hi, With the low IgM and the severe VZV, maybe DOCK8 deficiency?  Is his IgE elevated, any eczema, allergies, asthma?  Some of those features have been variable, as well as the degree of pulmonary disease. 
Alexandra
________________________________________
From: Church, Joseph [JChurch at chla.usc.edu]
Sent: Tuesday, December 14, 2010 12:35 PM
To: pagid at list.clinimmsoc.org
Subject: [CIS-PAGID] ? Combined Immune Deficiency

Colleagues:

I follow a 5yo boy who presented with recurrent pneumonias and failure to thrive since 8 months of age.  At 1 year he developed severe varicella after immunization with VZV.

Normal tests include:
·        T and B and NK cell numbers
·        Mitogen lymphoproliferative (LPA) responses
·        Tetanus, Candida LPA
·        IgG and IgA
·        Tetanus and Hib antibody responses
·        Varicella antibody responses
·        NK cell cytotoxicity (Cincinnati Children's)
·        HLA/MHC I and II expression

Abnormal tests include:

 *   Elevated percentage of B-cells (~30%)

 *   Borderline LPA to Varicella virus
 *   Borderline IgM levels
 *   Poor antibody responses to Pneumovax
 *   ABSENT CTL function x2 (Cincinnati Children's)

Currently, he is doing well on IVIG.

Does this patient fit with any known syndromes?

Thanks for your help.

Joe Church
Children's Hospital Los Angeles

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