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

Fri Jan 8 10:08:43 EST 2016

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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