[PAGID] ? XLA

[C. Lucy Park]

Dear Lisa,
According to the US X-linked immunodeficiency with hyper–immunoglobulin M
[XHIGM] Registry (2003), two prominent clinical problems are PCP and
neutropenia. Nearly one half of patients with XHIGM presented with PCP prior
to, or at the time of, diagnosis.

About 20% of patients with XHIGM express nonfunctional CD40 ligand on T
cells, which can bind anti–CD40 ligand monoclonal antibodies. Therefore,
these patients may require testing of the capability of T cells to bind to
CD40, using CD40-Ig fusion protein. The final molecular diagnosis may depend
on sequence analysis of *CD40L* using complementary DNA (cDNA) or genomic
DNA.

Is he neutropenic? Neutropenia is a common feature of XHIGM and may result
from a defective, stress-induced, CD40-dependent granulopoiesis as myeloid
progenitors express CD40 molecules. Autoantibodies to neutrophiles are
generally absent. Anemia and/or thrombocytopenia also occurred but with much
less frequency than neutropenia.
AID deficiency (autosomal recessive) also frequently presents with
opportunistic infection.

-- 
C. Lucy Park, M.D.
Department of Pediatrics
University of Illinois at Chicago
T:312-996-6714, F:312-413-8694
-------------- next part --------------
An HTML attachment was scrubbed...
URL: http://seven.pairlist.net/mailman/private/pagid/attachments/20070126/3a3b828e/attachment.html