[CIS PIDD] [cis-pidd] 40 year old woman with Behcet's and adult onset recurrent rapidly progressive cellulitis/sepsis

Wed Oct 7 06:45:45 EDT 2015

Does she have incontinentia pigmenti?
We have observed a similar course in carriers of a NEMO mutation with skewed X-inactivation favoring the mutant allele.

Beste Grüße

Prof. Dr. Stephan Ehl
Medizinischer Direktor

UNIVERSITÄTSKLINIKUM FREIBURG
CCI - Center for Chronic Immunodeficiency

Breisacher Str. 117 - 2. OG, 79106 Freiburg i. Brsg., Germany
phone: +49(0)761.270-77300
Sekretariat +49(0)761.270-77550  fax +49(0)761.270-77600
e-mail: stephan.ehl at uniklinik-freiburg.de<mailto:stephan.ehl at uniklinik-freiburg.de>

Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Mittwoch, 7. Oktober 2015 12:30
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: Re: [cis-pidd] 40 year old woman with Behcet's and adult onset recurrent rapidly progressive cellulitis/sepsis

I will start by saying that I don’t know what you patient has and while the complex of oral ulcers and arthritis seems tempting to attribute to Behcet’s, I would definitely keep Crohn’s in the back of your mind.  It is possible that the Humira has blunted the symptoms but it is still smoldering away.

I mention it because the Humira itself is immune suppressive and definitely delays the manifestations of infection, allowing the infection to present later than one would like.  Personal experience with that.  Also, if there is a smoldering Crohn’s, then you might have a breach in the mucus barrier which is also increasing the bacterial load to deal with.

I don’t know if this is the pathogenesis in your patient, but I would at least consider it.

Kate Sullivan, MD PhD
Wallace Chair
Chief of Allergy Immunology
ARC 1216 CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363

On Oct 6, 2015, at 10:35 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Dear colleagues,

I am seeking input on a complex adult patient who was well until 25 years of age. She was referred by an infectious disease specialist for evaluation of her neutrophil function.  Her last two life-threatening documented bacterial infections required the addition of WBC transfusions on top of directed parental antibiotics for clinical improvement.

  1.  25 years of age presented with recurrent fevers and found to have enterococcal endocarditis
  2.  30 years Arthritis with diagnosis of spondyloarthropathy. Started on humira
  3.  Shortly after starting humira experienced first episode of rapidly progressive polymicrobial cellulitis on lower extremity.  This required skin grafting. The graft still hasn't healed completely.
  4.  Shortly afterwards noted to have severe pathergy to the extent that venipuncture could not be done and a central line was placed.  She was also experiencing recurrent oral ulcers.  Slit lamp exam showed mild anterior chamber uveitis and a diagnosis of Behcet's was made.  She was started on prednisone and rotated through a series of immunomodulatory meds. Currently she is on low dose daily prednisone and apremilast.
  5.  She has experienced 5 central line infections, most cultures positive for enterococcus. She has recurrent skin infections. The last two episodes in the past 6 months presented with sepsis-like syndrome. One episode was preceded by image confirmed preseptal cellulitis.  This progressed rapidly necessitating enucleation and the WBC transfusions despite good antibiotic coverage.

Her WBC counts have been slightly elevated with these episodes and normalize in-between. The tissue biopsies have demonstrated chronic inflammation with detectable neutrophils. DHR was normal. HIV negative. MHC Class I and II expression reported as normal. Normal CD11b expression. Normal in vitro inflammatory response to panel of TLR agonists (done commercially). Normal chemotaxis 2D and 3D (done on a research protocol). Normal CH50, normal humoral function, normal T cell function.

This woman is very disabled by her recurrent infections since she has prolonged hospitalizations, end-organ damage, and long recoveries.  These infections seem out of proportion to her low dose daily steroids and her immunosuppressive therapy. I couldn't find a Behcet's case in the literature with this degree of life-threatening infections.

Have any of you seen a similar case in your practice?
Any other diagnositic tests that should be pursued?
Any thoughts on additional therapies?

Thank you

Chris

Christine M. Seroogy MD,  FAAAAI
Associate Professor
University of Wisconsin School of Medicine and Public Health
Department of Pediatrics
Division of Allergy, Immunology & Rheumatology
1111 Highland Avenue
4139 WIMR
Madison, WI  53705-2275
phone: 608-263-2652
fax: 608-265-0164

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