[CIS PIDD] [cis-pidd] 13mth male with recurrent perirectal abscesses

Wed Jan 6 12:18:47 EST 2016

That would be great.  Please send the information.

Benjamin L. Wright, MD
Mayo Clinic
Division of Allergy, Asthma and Clinical Immunology
Tel: 480.301.4284<tel:480.301.4284> | Fax: 480.301.9066<tel:480.301.9066>
13400 E. Shea Blvd. | Scottsdale, AZ 85259<x-apple-data-detectors://2/1>
wright.benjamin at mayo.edu<mailto:wright.benjamin at mayo.edu>

On Jan 6, 2016, at 10:17 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

We perform a neutrophil bactericidal assay at NJH; so we're really looking at the entire process of phagocytosis through bacterial clearance. I would be happy to provide further details regarding the assay and sample requirements.
Vijaya

Vijaya Knight, MD, PhD, (D)ABMLI
Laboratory Director, Immunology
Asst. Professor, Dept. of Medicine
National Jewish Health Advanced Diagnostic Laboratories
303.398.1292 Office
303.398.1344 Laboratory
303.270.2125 Fax
KnightV at njhealth.org<mailto:KnightV at njhealth.org>
njlabs.org<http://njlabs.org> |njhealth.org<http://njhealth.org>

-----Original Message-----
From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Wednesday, January 06, 2016 8:01 AM
To: CIS-PIDD
Subject: RE: [cis-pidd] 13mth male with recurrent perirectal abscesses

Yes, I believe NJH does a neutrophil phagocytosis assay still, you may have to contact them to arrange.

Megan

Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics Division of Rheumatology Washington University School of Medicine Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu> Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M

-----Original Message-----
From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Tuesday, January 05, 2016 10:03 PM
To: CIS-PIDD
Subject: RE: [cis-pidd] 13mth male with recurrent perirectal abscesses

Thank you for your input.  In response to your questions:

- the patient is growing well.
- sequencing for IL-10 deficiency is pending.
- prior endoscopy did not extend beyond the duodenum so the terminal ileum was not assessed (need to f/u with GI)
- had not considered XIAP
- where can we send neutrophil phagocytosis assay? NJH?

Ben

________________________________________
From: CIS-PIDD [cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>]
Sent: Tuesday, January 05, 2016 8:28 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] 13mth male with recurrent perirectal abscesses

IL10 mutations, XIAP, IPEX, CD25 would be unusual if no evidence of growth failure

James

James Verbsky MD/PhD
Associate Professor of Pediatrics
Departments of Pediatrics and Microbiology Medical Director, Clinical Immunology Research Laboratory Medical Director, Clinical and Translational Research Medical College of Wisconsin/Children's Hospital of Wisconsin Milwaukee, WI  53226

From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org><mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net><mailto:cis-pidd at lyris.dundee.net>>
Date: Tuesday, January 5, 2016 at 4:28 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net><mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] 13mth male with recurrent perirectal abscesses

Hello all,

I have difficult case that I would appreciate your thoughts on.  13mth male with recurrent perirectal abscesses and anal fistulas beginning at 2mths of life.  Other infections include recurrent URI's, 1 episode of thrush at 2 months, AOM x 10.  No history of pneumonia.  No abscesses elsewhere.  No IBD on endoscopy/colonoscopy.  No known endocrinopathies.

PMHx:
Eczema (mild)
Food allergy (eggs, milk)
Chronic diarrhea

Surgeries:  OR 11 times for surgical management of perirectal abscesses/anal fistulas.

FHx: no PID, no consanguinity, parents are both from Mexico.

Labs/workup:
10/22/2015-bacterial culture from wound positive for fecal flora, fungal culture negative
01/24/2015- bacterial culture from wound positive for mixed enteric flora 02/02/2015-wound culture positive for mixed enteric flora All prior blood cultures negative
01/19/2015 heme occult positive
02/01/2015 CBC: White blood cell count 9.8, hemoglobin 9.5, platelet count 381, absolute neutrophil count 4500, absolute lymphocyte count 4200, absolute eosinophil count 400
09/04/2015 colon fecal calprotectin elevated at 205
09/17/2015: Endoscopy and colonoscopy negative for gross endoscopic findings. Focal chronic inflammation noted in the stomach by pathology.
History of elevated inflammatory markers CRP 20.3, ESR 19

09/21/2015: Respiratory burst normal
12/10/15: normal titers to tetanus/diphtheria, IgM normal, IgG elevated at 1141, IgA normal, IgE elevated 599
12/10/15: functional testing for IL-10 receptor normal
12/10/15: Flow (attached): He has mild lymphopenia (ALC 3485) with moderately decreased B cells (592 absolute).  CD4, CD8, NK numbers are all normal.  Normal expression of CD11b and CD18.

 [cid:image001.png at 01D143D8.4897A630]

We plan to send genetic sequencing as the functional IL-10R testing does not rule out IL-10 deficiency, but I know this is quite rare and wanted to query to listserve to see what else we should consider (CD25 def, IPEX).

Ben

Benjamin L. Wright, MD| Allergy, Asthma & Clinical Immunology Office Tel: 480.301.4284<tel:480.301.4284> | Fax: 480.301.9066<tel:480.301.9066>| Pager 127 or (79)1-5302 | wright.benjamin at mayo.edu<mailto:wright.benjamin at mayo.edu><mailto:wright.benjamin at mayo.edu>
Mayo Clinic | 13400 East Shea Boulevard | Scottsdale, AZ 85259

---

You are currently subscribed to cis-pidd as: jverbsky at mcw.edu<mailto:jverbsky at mcw.edu><mailto:jverbsky at mcw.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396710.777d26b6da96d84a8b0d5e2d208337f2&n=T&l=cis-pidd&o=3396095

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3396095-96396710.777d26b6da96d84a8b0d5e2d208337f2 at lyris.dundee.net<mailto:leave-3396095-96396710.777d26b6da96d84a8b0d5e2d208337f2 at lyris.dundee.net><mailto:leave-3396095-96396710.777d26b6da96d84a8b0d5e2d208337f2 at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: wright.benjamin at mayo.edu<mailto:wright.benjamin at mayo.edu>.
To unsubscribe click here: http://cts.dundee.net/u?id=100174428.03717261b42ecd5bacefbb09c948dec5&n=T&l=cis-pidd&o=3396458
or send a blank email to leave-3396458-100174428.03717261b42ecd5bacefbb09c948dec5 at lyris.dundee.net<mailto:leave-3396458-100174428.03717261b42ecd5bacefbb09c948dec5 at lyris.dundee.net>
---
You are currently subscribed to cis-pidd as: cooper_m at kids.wustl.edu<mailto:cooper_m at kids.wustl.edu>.
To unsubscribe click here: http://cts.dundee.net/u?id=96396471.9a016f51f09faba79ab9575dbdcfbf77&n=T&l=cis-pidd&o=3396491
or send a blank email to leave-3396491-96396471.9a016f51f09faba79ab9575dbdcfbf77 at lyris.dundee.net<mailto:leave-3396491-96396471.9a016f51f09faba79ab9575dbdcfbf77 at lyris.dundee.net>

The materials in this email are private and may contain Protected Health Information. If you are not the intended recipient, be advised that any unauthorized use, disclosure, copying, distribution or the taking of any action in reliance on the contents of this information is strictly prohibited. If you have received this email in error, please immediately notify the sender via telephone or return email.

---
You are currently subscribed to cis-pidd as: knightv at njhealth.org<mailto:knightv at njhealth.org>.
To unsubscribe click here: http://cts.dundee.net/u?id=98979211.5464e842d777c6631f0be51282d4580e&n=T&l=cis-pidd&o=3397348
or send a blank email to leave-3397348-98979211.5464e842d777c6631f0be51282d4580e at lyris.dundee.net<mailto:leave-3397348-98979211.5464e842d777c6631f0be51282d4580e at lyris.dundee.net>

NOTICE: This email message is for the sole use of the intended recipient(s) and may contain confidential and privileged information. Any unauthorized review, use, disclosure or distribution is prohibited. If you are not the intended recipient, please contact the sender by reply email and destroy all copies of the original message.
---
You are currently subscribed to cis-pidd as: wright.benjamin at mayo.edu<mailto:wright.benjamin at mayo.edu>.
To unsubscribe click here: http://cts.dundee.net/u?id=100174428.03717261b42ecd5bacefbb09c948dec5&n=T&l=cis-pidd&o=3397602
or send a blank email to leave-3397602-100174428.03717261b42ecd5bacefbb09c948dec5 at lyris.dundee.net<mailto:leave-3397602-100174428.03717261b42ecd5bacefbb09c948dec5 at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3397605
or send a blank email to leave-3397605-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160106/81715803/attachment-0001.html>