[PAGID] Unusual SCID/CID patient

MacGinnitie, Andrew Andrew.MacGinnitie at chp.edu
Fri Oct 12 16:48:35 EDT 2007


We have an interesting CID/SCID patient (where does the line between them fall, anyway)



20 mo old female with history of poor growth and developmental delay with respiratory failure due to PCP pneumonia. . Symmetric failure to thrive with head circumference, height, weight all proportionally down.



One previous pneumonia 2 months previously. Both admission and follow up CXRs from that visit have pattern suspicious for PCP (improved on steroids given for question of wheeze)



Labs include persistent lymphopenia (ALC 800 on admission) down to 300 2 days later when B/T cell subsets showed CD4 150, CD8 130, almost no B or NK cells.

Staining for CD3/CD4/CD45RA/CD62L showed >50% of CD3/CD4 cells with naïve phenotype.

Proliferation to mitogens 0.

ADA/PNP sent to Duke and normal!

Initial IgG 400 with good response to diphtheria and tetanus.

22q11 negative and no other typical features of DiGeorge



Our sense has been that the late presentation and normalish IgG/good specific antibody response makes classic SCID unlikely. We were surprised PNP was normal.



We've considered both CD3 defects and DNA recombination defects (Ligase IV, Cernunnos, etc), the latter would go with her developmental delay/microcephaly (not dysmorphic that we can appreciate).


Any other ideas on workup or possible defects? Is there somewhere we can get testing for radiosensitivity?


We are repeating mitogens while we go ahead with transplant work-up



Thanks



Andy



Andrew J. MacGinnitie MD PhD

Assistant Professor of Pediatrics

Division of Pulmonary Medicine, Allergy and Immunology

Children's Hospital of Pittsburgh

3705 Fifth Ave, Pittsburgh, PA 15213

andrew.macginnitie at chp.edu

412/692-8903 (office)

412/692-8499 (fax)




CONFIDENTIALITY NOTICE. This e-mail and attachments (if any) are the sole property of Children's Hospital of Pittsburgh and may contain information that is confidential, proprietary, privileged or otherwise prohibited by law from disclosure or re-disclosure. This information is intended solely for the individual(s) or entity(ies) to whom this e-mail or attachments are addressed. If you have received this e-mail in error, you are prohibited from using, copying, saving or disclosing this information to anyone else. Please destroy the message and any attachments immediately and notify the sender by return e-mail. Thank you.

-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20071012/761712c6/attachment.html>


More information about the PAGID mailing list