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

Sat Nov 18 09:31:38 EST 2017

We have had difficulties with identifying NTM so I suggest sending to Mayo, National Jewish or The University of Texas at Tyler and make sure that they do PCR if it is not one of the most common 2-3 organisms.  Also make sure that you get a genus and species, e.g. not just MAI.  We have written a few papers about the problems with identifying the organisms along with the group at UT Tyler.  References at end of email.

Sincerely,

Wellington S. Tichenor, M. D.
642 Park Avenue
New York, New York 10065
212 517-6611
wtichenor at sinuses.com<https://register.concentric.com/home/apps/mail/mbox_compose.cgi?pTo=wtichenor@sinuses.com>

Tichenor WS, Thurlow J, McNulty S, Brown-Elliott BA, Wallace RJ, Falkinham JO, Nontuberculous Mycobacteria in Household Plumbing as a Possible Cause of Chronic Rhinosinusitis, Emerging Infectious Disease, 2012;18(10): 1612-1617

Wallace R,  Iakhiaeva E, Williams M, Brown-Elliott B, Vasireddy S,  Vasireddy R, Lande L,  Peterson D,  Sawicki J,  Kwait R,  Tichenor W,  Turenne C, and Falkinham J  Absence of Mycobacterium intracellulare and the Presence of Mycobacterium chimaera in Household Water and Biofilm Samples of Patients in the U.S. With Mycobacterium avium Complex Respiratory Disease, Journal of Clinical Microbiology, 2013;51(6), 1747-1752

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From: cis-pidd at lyris.dundee.net [cis-pidd at lyris.dundee.net] on behalf of CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Sent: Saturday, November 18, 2017 6:52 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] GATA 2 mutation and skin lesion

Based on our experience with this condition, mycobacterial infection is the most common and problematic because it's hard to isolate. The species does matter though because of different sensitivities. Look wisest too such as BAL or PET scan. Then perhaps start with 2 or 3 drugs empirically based on what the ID folks think is the most likely suspect. If you see a response, continue therapy through transplant and beyond, as long as there is no toxicity.

Ashish
Ashish Kumar, MD, PhD
Associate Professor
Director, Pediatric Hematology-oncology fellowship program
Director, Langerhans cell histiocytosis center
Cincinnati Children's Hospital Medical Center

On Nov 18, 2017, at 5:58 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Yes- rubella causes cutaneous (and other sites) granulomatous lesions.

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 18, 2017, at 12:46 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Thanks for your thoughts and input, that was really helpful.
I am not sure I get the point about rubella, can it cause that lesion?
Fungus culture is negative to date ( 8 days), but I will double check about the stain on path
We are sending AFB blood culture as well.
Cocci is a possible exposure being in California
That RG NTM can be misread as Gram-positive rod is a really a good point!
We haven't sent EBER staining for hydroa vacciniforme, thanks for the thought!

Rofida

________________________________
From: 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>> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Sent: Friday, November 17, 2017 9:43 PM
To: CIS-PIDD
Subject: [cis-pidd] GATA 2 mutation and skin lesion

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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