[PAGID] <no subject>

[Routes, John]

I am posting this from Dr. AL-Zahrani for everyones input





Dear Dr. John Routes,


I would appreciate it very much if you can help me with TREC analysis for
difficult case that I have.
   The case is a most 2 -month old transferred to our ICU form private
hospital because of recurrent sepsis, candidemia, thrompocytopenia and
elevated liver enzymes. She was treated aggressively with IV antibiotics and
ampho-B.
Her thrompcytpoenia resolved and liver enzymes are declining. She has no
skin rash.
They consulted our service because she developed K. pneumonia sepsis after
resolution of her previous sepsis.
Her immunologic work up showed (normal CD3+ NK+), but persistent B-cell
lymphopenia ( 0.08 cells) while she continued to maintain normal level of
her Ig's over the last 2-3 weeks(IgG=3.4 g/l , IgM= 0.7 g/l and IgA=0.5g/L)
despite the serious  recurrent infections and No IVIG given.
The PHA was normal (as the control); done 3 times ( once/week).
CD3+CD4+CD45 RA+ =12%  and  CD3+CD4+CD45 RO+ = 40%.
TCR  a/b  = 96% and TCR g/d = 4% ( of total T ­cells). Normal adhesion
molecules.
The CXR; showed absent thymus shadow.
The 1st HIV-PCR was positive ( she received several PRCB and platelets
transfusion in the referring Hospital), however, it was done 2 times
thereafter and was negative.
The ID colleagues recommend to repeat it 4-weeks late.
EBV, CMV, HSV by PCR all negative.
Some thing made the story more confusing is that, she was given
Phenobarbital for seizure when she was in the private hospital.

Now could this be;
1)      A Leakly SCID (serous infections and absent thymus)?
2)      Or could hypomorous RAG1/RAG2 or artimus mutations present like this
?
3)      Or Phenobarbital related B-cell lymphopenia, as she is maintaining
her Ig's and no infections for 2-wk Š?
4)      Or could HIV present like this at the beginning before she shows
persistent viremia (high HIV-PCR).

Could you please help us by doing TREC analysis there after if it confirm
SCID we can proceed with BMT.

I appreciate your response and help.

Thank you and have a nice day.

Sincerely,

DR. Daifulah AL-Zahrani, MD, FAAP, ABAI.
Consultant allergy, Immunology and BMT.
Pediatric Department.
King Abdulaziz medical City ­WR
P.O.Box: 9515
Jeddah 21423
Saudi Arabia
Tel: +966-26240000 Ext: 22069
Mobile: +966-505203231