[CIS-PAGID] Agammaglobulinemic male, normal BTK

[Klaus Warnatz]

Dear Terri,

6% of B cells would be unusually high for a btk deficiency? What are the 
absolute counts of B cells? Did you have a chance to phenotpye the B 
cells. If their is a (not complete) deficiency in btk then you would 
expect that the remaining B cells have an additional block at the 
transitional B cells. ie few mature B cells (you migth find however some 
plasmablasts), also for other forms the B cell differentiation should be 
revealing to some extent.
As Charlotte shared agamma we find in some patients not fulfilling the 
criteria for classical agamma we ahve included in our CVID cohort. Is 
there any hint for additional protein loss, hypercatabolism? When you 
start him on Ig again, do you reach the expected IgG levels?
Combined with the early onset you are probably right that this will be a 
subcategory of what we still would call CVID at this time.

Greetings

klaus

Am 04.08.2011 16:25, schrieb Terri Tarrant:

> 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

>


-- 
Prof. Dr. Klaus Warnatz MD
Centre of Chronic Immunodeficiency
Div. of Rheumatology and Clinical Immunology
University Medical Centre Freiburg
Klinik für Tumorbiologie (2.OG)
Breisacher Str. 117
79106 Freiburg
Germany

Tel: +49-761-270-77640
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