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

[CIS-PIDD]

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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