[CIS-PAGID] ? Combined Immune Deficiency

[Michael Albert]

Atypical FHLH?

On Tue, Dec 14, 2010 at 6:35 PM, Church, Joseph <JChurch at chla.usc.edu>wrote:


>  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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