[CIS-PAGID] ? Combined Immune Deficiency

[Church, Joseph]

Thanks, Alexandra:

Helen Su via Tom Fleisher made the same suggestion.  The patient has
mild atopy with an IgE of ~80.  

I have applied to our IRB to send specimens to Talal Chatila at UCLA for
DOCK8 and will add this patient to my list.

Thanks, again.

Joe Church

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Freeman,
Alexandra (NIH/NIAID) [E]
Sent: Tuesday, December 14, 2010 6:08 PM
To: pagid at list.clinimmsoc.org
Subject: 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

---------------------------------------------------------------------
CONFIDENTIALITY NOTICE: This e-mail message, including any attachments,
is for the sole use of the intended recipient(s) and may contain
confidential
or legally privileged information. Any unauthorized review, use,
disclosure
or distribution is prohibited. If you are not the intended recipient,
please
contact the sender by reply e-mail and destroy all copies of this
original message.
---------------------------------------------------------------------




---------------------------------------------------------------------
CONFIDENTIALITY NOTICE: This e-mail message, including any attachments, 
is for the sole use of the intended recipient(s) and may contain confidential
or legally privileged information. Any unauthorized review, use, disclosure
or distribution is prohibited. If you are not the intended recipient, please
contact the sender by reply e-mail and destroy all copies of this original message.  

---------------------------------------------------------------------