[CIS PIDD] [cis-pidd] 13mth male with recurrent perirectal abscesses
CIS-PIDD
cis-pidd at lists.clinimmsoc.org
Tue Jan 5 17:28:21 EST 2016
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>
Mayo Clinic | 13400 East Shea Boulevard | Scottsdale, AZ 85259
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