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

[CIS-PIDD]

Hi Ben
Have you considered Xiap?
Jen

Sent from my iPhone

On Jan 5, 2016, at 8:48 PM, "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Hi Ben,

Interesting case.  Can you check neutrophil function?

P40phox mutations have nl burst with phorbol esters or fMLF, but abnormal phagocytosis respiratory burst.

Rac2 would be another one to consider for neutrophil dysfunction.

Best,

Megan

Megan A. Cooper, MD, PhD
Assistant Professor
Washington University
Department of Pediatrics
Division of Rheumatology

Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu>

On Jan 5, 2016, at 4:29 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

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.

  <image001.png>

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>
Mayo Clinic | 13400 East Shea Boulevard | Scottsdale, AZ 85259


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