[CIS-PAGID] Agammaglobulinemic male, normal BTK

[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
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