[CIS-PAGID] ? Combined Immune Deficiency

[Sergio Rosenzweig]

Any dysmorphisms? cartilage hair hypoplasia? Bloom syndrome?
Sergio

Sergio D. Rosenzweig, MD, PhD
Chief, Infectious Diseases Susceptibility Unit
Laboratory of Host Defenses, NIAID, NIH
10 Center Dr., Bldg. 10, CRC 5W-3888
Bethesda, MD 20892-1456
Phone (301) 451 8971
Fax (301) 451 7901
Cell (240) 361 7617
Pager 102 10678
srosenzweig at niaid.nih.gov
 
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>>> "Church, Joseph" <JChurch at chla.usc.edu> 12/14/10 3:36 PM >>>

Colleagues:

 

I follow a 5yo boy who presented with recurrent pneumonias and failure
to thrive since 8 months of age.  At 1 year he developed severe
varicella after immunization with VZV.

 

Normal tests include:

*        T and B and NK cell numbers

*        Mitogen lymphoproliferative (LPA) responses

*        Tetanus, Candida LPA

*        IgG and IgA

*        Tetanus and Hib antibody responses

*        Varicella antibody responses

*        NK cell cytotoxicity (Cincinnati Children's)

*        HLA/MHC I and II expression

 

Abnormal tests include:

*	Elevated percentage of B-cells (~30%)

*	Borderline LPA to Varicella virus
*	Borderline IgM levels
*	Poor antibody responses to Pneumovax
*	ABSENT CTL function x2 (Cincinnati Children's)

 

Currently, he is doing well on IVIG.

 

Does this patient fit with any known syndromes?

 

Thanks for your help.

 

Joe Church

Children's Hospital Los Angeles



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