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

Fri Nov 17 15:08:54 EST 2017

Dr. Nofal:

If the kid’s been anywhere close to the Ohio river valley system / upper midwest, do think about Blastomyces (which is a fungus that could hit skin).   If the southwest US / northwest Mexico, then Coccidioides (which could also hit skin).

Empiric mycobacterial therapy is actually rather difficult (very unappreciated by most).  It depends how much do you think the kid may have TB, non-TB (slow-growing), or non-TB (rapid growing).  I’m thinking the last, where my empiric would be amikacin + clarithro + imipenem, so as to have at least 2 drugs apiece covering the big 4 rapid NTMs (M abscessus, M chelonae, M fortuitum, M neoaurum).  You want to choose carefully … if the bug is exposed to a bunch of drugs, but is only sensitive to one (usually clarithro/azithro), then you’ll lose sensitivity to that drug in a few weeks.

For detection, go with PCR (UWash does this) or NGS (if available in your university).  It will still take some time.  The virtue of waiting a bit (if the kid’s stable) is that this allows one to guess less.

   - K

Karl O. A. Yu, M.D., Ph.D., F.A.A.P.
Scientist II and Assistant Director, Center for Infectious Diseases and Immunology
RGH Research Institute | Rochester General Hospital | Rochester Regional Health
1425 Portland Ave., Room R-403, Rochester, NY   14621
Tel  585-922-3709  |  Fax  585-922-2415

From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Friday, November 17, 2017 2:57 PM
To: CIS-PIDD
Subject: AW: [cis-pidd] GATA 2 mutation and skin lesion

Dear Rofida,

Have you done EBER staining (hydroa vacciniforme)?

Best, Fabian

Fabian Hauck, MD, PhD

Head Immunodeficiency Unit and Immunological Diagnostics Laboratoy
Pediatrics / Pediatric Hematology and Oncology / Immunology (DGfI)

Dr. von Hauner Children’s Hospital
Klinikum der Universität München
Lindwurmstr. 4, 80337 München
Germany

Tel.: +49 89 4400-53931
Fax: +49 89 4400-53964
E-Mail: fabian.hauck at med.uni-muenchen.de<mailto:fabian.hauck at med.uni-muenchen.de>

________________________________
Von: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>> im Auftrag von CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Gesendet: Freitag, 17. November 2017 20:46
An: CIS-PIDD
Betreff: Re: [cis-pidd] GATA 2 mutation and skin lesion

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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