[CIS PIDD] [cis-pidd] GATA 2 mutation and skin lesion

CIS-PIDD cis-pidd at lists.clinimmsoc.org
Fri Nov 17 14:46:05 EST 2017


happy to look for rubella if you want.

In truth- fungus maybe makes more sense if AFB negative but I presume you would have seen that on path.


Sullivan, Kathleen MD PhD
Wallace Chair
Chief of Allergy Immunology
ARC 1216 CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363
sullivank at email.chop.edu<mailto:sullivank at email.chop.edu>



On Nov 17, 2017, at 2:43 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Hi everyone,

I have been following a 17 y/o patient with GATA 2 mutation who is in donor search process for transplant. Recently, she developed skin lesions initially as indurated non tender non erythematous skin nodule then developed into skin ulcer with dark border, so far she had 2 of those and developing a 3rd lesion.
Biopsy from lesion showed granulomatous lesions with foamy histocytes and so far AFB culture is pending for 8 days and tuberculous mycobacteria by PCR is negative. AFB smear negative. We are also sending extended mycobacteria PCR. She is not on macrolide prophylaxis. She has intermittent fever, anorexia and weight loss.
Her labs are significant for: WBC of 2.7 TH/mm3, ANC 1800 and most recent flow showed absent NK cells, profoundly low B cell and decreased T cells number, with absent t cell proliferation response to Ag and decreased to mitogen. Normal Ig levels.
The concern is for non TB mycobacteria skin or even disseminated infection, esp taking into account her other symptoms ( fevers, anorexia, weight loss).
I would like to see what your thoughts are regarding faster detection methods and starting empirical treatment?

Thanks,

Rofida

Rofida Nofal, MD
Pediatric Hematology Oncology Fellow
UCSF Children's Hospital Oakland, CA
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