[CIS PIDD] [cis-pidd] 12 yo with oral candidiasis

[Forbes, Lisa R.]

As more cases are described, there is a variety of phenotypes, age of onset and disease progression.

Seattle offers STAT1 as a clinical test and Wisconsin offers a flow based assay

Best,
Lisa

On Jul 25, 2013, at 8:44 AM, "Church, Joseph" <JChurch at chla.usc.edu<mailto:JChurch at chla.usc.edu>> wrote:

Richard:

I don’t know why.  However, when I described an otherwise healthy 13yo girl with thrush to Jean-Laurent, the first thing he mentioned was STAT1.

Joe Church

From: Richard Wasserman [mailto:drrichwasserman at gmail.com]
Sent: Thursday, July 25, 2013 6:13 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] 12 yo with oral candidiasis

Thank you for your suggestions. Does anybody have a thought about why a STAT1/TH17 related problem would present for the first time at age 12?
Richard

On Tue, Jul 23, 2013 at 9:50 AM, Church, Joseph <JChurch at chla.usc.edu<mailto:JChurch at chla.usc.edu>> wrote:
Richard:

Consider contacting Jean-Laurent Casanova at Rockefeller for STAT1 and perhaps other genes.

Joe Church

From: Richard Wasserman [mailto:drrichwasserman at gmail.com<mailto:drrichwasserman at gmail.com>]
Sent: Tuesday, July 23, 2013 4:58 AM
To: CIS-PIDD
Subject: [cis-pidd] 12 yo with oral candidiasis

I am seeing a 12 yo who presented with oral candidiasis for the first time two months ago. He was treated with nystatin and cleared. One month later the candida returned.

He had been well with no significant infection history, no exposure to oral or inhaled corticosteroids and one course of antibiotics a few months before presentation. There is no significant past medical or family history. When I saw him, the physical examination was normal.

CBC, IgA, IgG, IgM, CD3, 4,8, 19 and 16/56 were all normal, ANA was negative.

The proliferative response to PHA, ConA and PWM and to tetanus were all vigorous. The response to candida was <50% of the lower limit of normal.

What is the best next step?

Thank you,
Richard Wasserman
Dallas

--
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
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--
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

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