[PAGID] CVID question

[Lisa Kobrynski, MD, MPH]

We have 2 girls and an adult male who presented with recurrent respiratory
infections and were found to be agammaglobulinemic - with normal numbers of B
cells. One of the girls has an inverted CD4/CD8 ratio and has a decreased number
of RO cells.  We have not looked at the RA/RO populations in the other 2
patients.  The other girl has had intermittent neutropenia.  Both girls have
problems with granulomatous disease (one with pulmonary granulomas, the other
with Crohn's).  It would be very interesting to look at a larger cohort to see
if there are any similarities.

Lisa Kobrynski, MD, MPH
Assistant Professor of Pediatrics
Division of Allergy and Immunology
Emory University
404-727-3575
404-727-5045 (fax)



Quoting "Saxon, Andy M.D." <ASaxon at mednet.ucla.edu>:

> I wonder if these subjects represent a subtype of CVID. Once you rule out
> BTK disorders, e.g. normal number of peripheral B cells, is there an
> investigation the group should do to see if these CVID patients with
> "absent
> Ig which includes an IgG of <100" are have a common phenotype? and possibly
> even genotype? Nature of T cells (RA vs RO), markers on B cells, TACI
> mutations etc.?  
> 
> Could the group come up with a protocal to study these people
> 
> Andy Saxon
> 
> -----Original Message-----
> From: pagid-bounces at list.clinimmsoc.org
> [mailto:pagid-bounces at list.clinimmsoc.org]On Behalf Of dmvascon at usp.br
> Sent: Saturday, July 29, 2006 6:50 AM
> To: pagid at list.clinimmsoc.org
> Subject: Re: [PAGID] CVID question
> 
> 
> We have seen some patients with very low IgG (less than 100 mg/dL) and
> undetectable IgA, IgM and IgE, and one patient with undetectable IgG(< 40
> mg/dL), IgA and IgE but normal IgM (~50 mg/dL). 
> This latter patient presented a history of respiratory infections with few
> digestive symptoms.
> 
> All the best,
> 
> Dewton
> 
> Dewton de Moraes Vasconcelos, M.D., Ph.D.
> Primary Immunodeficiencies Outpatient Unit - ADEE3003
> Department of Dermatology
> University of São Paulo Medical School
> 
> 
> 
> Citando "Kathleen E. Sullivan" <sullivak at mail.med.upenn.edu>:
> 
> > We have a teenager who presented in that manner and did not have an  
> > extensive infection history.
> > 
> > Kathleen E. Sullivan MD PhD
> > Chief, Division of Allergy and Immunology
> > Associate Professor of Pediatrics
> > The Children's Hospital of Philadelphia
> > (p) 215-590-1697
> > (f) 215-590-3044
> > 
> > 
> > On Jul 28, 2006, at 6:36 PM, Riedl, Marc wrote:
> > 
> > > We've recently seen a 41yo gentleman s/p pneumonia and sepsis found  
> > > to have
> > > undetectable IgG, IgA, IgM or IgE which has been confirmed by repeat
> > > testing.  He has normal B/T cell numbers. Neither Dr. Andy Saxon or  
> > > I have
> > > seen a CVI patient with such profound panhypogammaglobulinemia and  
> > > we were
> > > curious if others have seen CVI patients with absolutely no detectable
> > > antibody of any isotype by routine assays.
> > >
> > > Best,
> > >
> > > Marc
> > >
> > > Marc Riedl, M.D., M.S.
> > > Assistant Professor of Medicine
> > > Clinical Immunology and Allergy
> > > UCLA - David Geffen School of Medicine
> > > 10833 Le Conte Ave, 52-175 CHS
> > > Los Angeles, CA  90095-1680
> > >
> > >
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> 
> 
> 
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