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

Fri Jan 8 16:07:47 EST 2016

Dear professors,

I would like to seek advice on a 7 year old malewith XLA, crohn's disease, recurrent episodes of C. diff colitis (x7), chronicrhinosinusitis and recurrent conjunctivitis. 

The main problem is that the patient requiresmultiple courses of antibiotics to treat his sinus disease and this invariableresult in recurrent episodes of c. diff colitis (even when not takingantibiotics with higher risk of c. diff such as doxycicline). C. diff episodeshave been sometimes associated to crohn’s flares ending up in admission. Wehave tried giving him metronidazole or vancomycin concomitantly administeredwith po antibiotics (they were continued after finishing the antibiotics) butthis approach has not prevented him from getting c. diff. He has stable IgGlevels on hizentra (>1000 mg/dL most of the time). He has had sinus surgeryin the past, last sinus culture on 12/14 grew H. flu susceptible to ceftriaxoneand meropenem. Sinusitis prevention strategy with sinus rinses using ceftazidime+ budesonide, mupiracine + budesonide has not been effective. His crohn's is currentlytreated with remicade infusions, pentasa and probiotics and symptoms are stable.

Any thoughts/previous experience about usinghuman breast milk to prevent enteric/sinus disease in XLA?
Any advice/previous experience using oralimmunoglobulin to prevent c. diff infections in PID? 
Any thoughts/previous experience about fecalmicrobiota transplant in XLA or other PID?

Thank you,

Araceli Elizalde, MD
Assistant Professor of Clinical Pediatrics
Children’s Hospital of San Antonio
Baylor College of Medicine

-----Original Message-----
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Sent: Fri, Jan 8, 2016 9:09 am
Subject: Re: [cis-pidd] 13mth male with recurrent perirectal abscesses

Although not consanguineous, how about LRBA deficiency?
http://www.jacionline.org/article/S0091-6749(15)01365-2/abstract

Best, Bodo

****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Engesserstraße 4, 79108 Freiburg
bodo.grimbacher at uniklinik-freiburg.de
www.uniklinik-freiburg.de/cci

and 

Consultant Immunologist
Institute of Immunity & Transplantation
Dept of Immunology
Royal Free Hospital
UNIVERSITY COLLEGE LONDON
Pond Street
London NW3 2QG
b.grimbacher at ucl.ac.uk

www.centreforimmunodeficiency.com

Am 06/01/16 05:03 schrieb "CIS-PIDD" unter <cis-pidd at lists.clinimmsoc.org>:

>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]
>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>>
>Reply-To: CIS-PIDD
><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>>
>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>
>Mayo Clinic | 13400 East Shea Boulevard | Scottsdale, AZ 85259
>
>
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