[CIS-PAGID] Agammaglobulinemic male, normal BTK

[Riedl, Marc]

As with Charlotte, we follow a small group of patients with this profile as well and treat them as "CVID".  After ruling out BTK we've not chased a molecular diagnosis…..

Marc

Marc Riedl, M.D., M.S.
Associate Professor of Medicine
Section Head, Clinical Immunology and Allergy
UCLA - David Geffen School of Medicine
10833 Le Conte Ave, 37-131 CHS
Los Angeles, CA  90095-1680
Tel 310.206.4345  Fax 310.267.009


From: "Cunningham-Rundles, Charlotte" <charlotte.cunningham-rundles at mssm.edu<mailto:charlotte.cunningham-rundles at mssm.edu>>
Reply-To: pagid listserve <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>
Date: Thu, 4 Aug 2011 07:53:45 -0700
To: pagid listserve <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>
Subject: Re: [CIS-PAGID] Agammaglobulinemic male, normal BTK

Always strange but about 10% of what we still have to call "CVID" are like this man,  basically agammaglobulinemic with very low  B cells and no antibody.  As far as I know, as a group, no  molecular cause is yet known -- my bet is that there are still a lot of causes, even in this group. I don't know of current molecular tests that would be helpful. (If you think of one, there are other patients to test, that is for sure.)


Charlotte Cunningham-Rundles MD PhD



________________________________
From: pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org> on behalf of Terri Tarrant
Sent: Thu 8/4/2011 10:25 AM
To: pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>
Subject: [CIS-PAGID] Agammaglobulinemic male, normal BTK

Hello all,
I have recently seen a 33 year old male who has been off of IVIG for 10 years, but he tells me he has had recurrent infections (otitis, sinusitis, pneumonias) since early childhood.  He was evaluated while in the military in his 20's and found to be agammaglobulinemic (as he is now with undetectable IgM <25, IgA<5, and IgG<135 mg/dl), and vaccination/pathogen titers are nonprotective (tetanus, HIB, strep pneumo).  In his 20's he had strep pneumo leading to empyema and chest tube drainage, which was when IVIG was started, but he discontinued IVIG after leaving the military 10 years ago and has had multiple URIs and LRIs, but no hospitalizations since.  There are no enteroviral or pseudomonal infections, no problems with viral infections, and no family history of immunodeficiency in males or females, and he does have siblings.  His flow shows detectable but low normal B cells by CD19 immunostaining (6%) (our lab's nl range 7-23%).  CD3/CD4/CD8/NK cells are normal percentages and absolute numbers.  We sent sequencing to GeneDx for BTK, and it has returned normal.  He has recently developed psoriasis in the last year. Any thoughts on where to proceed next for a molecular diagnosis if possible?  Other autosomal recessive forms of agammaglobulinemia that have described have undetectable B cells peripherally, so I wasn't sure if we had reached a dead-end.

Many thanks for your time and thoughts,

Terri Tarrant, MD
Assistant Professor of Medicine
Thurston Arthritis Research Center
Lineberger Cancer Center Member
CB # 7280, 3300 Manning Dr.
Chapel Hill, NC 27599
(919) 843-4727
http://tarc.med.unc.edu/tarrant_welcome.php


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