[CIS-PAGID] case

[Heimall, Jennifer]

I would appreciate your thoughts on this difficult case:

My patient is 21 month old Caucasian female born to unrelated parents who has had transfusion dependant macrocytic anemia of unknown etiology since November 2010.  She was found to have a granuloma on bone marrow biopsy in spring 2011, cultures were negative.  She also has eczema and frequent loose stools with poor weight gain.  From an infectious standpoint she has has 1-2 episodes of otitis but is otherwise well. However she is an only child and cared for at home by her mother with limited exposures.

As part of the evaluation for a possible immunodeficiency, TLR functional assay was obtained and was remarkable for decreased responses to TLR 1-8 performed twice.  DHR was normal.  Flow: CD3 3221, CD4 2577, CD8 501, CD20 1512, CD16/56 243.  Total IgG 885, IgA 61 and IgM 61, IgE 96. Diptheria 2.59, Tetanus 0.28
She had skewed X-inactivation on a sample performed by a research laboratory, but repeat x inactivation studies by a commercial lab showed random inactivation.
Telomere length assessment has been normal in lymphocyte and granulocytes.  Cytogenetics microarrary revealed a normal female (1-22, X)x2
Mutation analysis performed by a commercial lab of IKBKG showed a variant c. 1056-18 C>T that is reported to be undetermined significance but predicted to lead to an intronic mutation.

There is consideration for transplant due to the anemia due to her young age and iron overload issues.

Thanks for any thoughts regarding further evaluation/treatment...
Jen


Jennifer Heimall, MD
The Children's Hospital of Philadelphia
Allergy/Immunology Attending Physician
3550 Market Street
3rd Floor
Philadelphia, PA 19104

-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20120110/90d7ea2a/attachment.htm>