[CIS PIDD] [cis-pidd] Patient with NEMO rash and joint inflammation

[Carsten Speckmann]

I absolutely agree, that it is mandatory to rule out an infection or infectious trigger.
Yet, you may also need to consider an autoinflammatory process.
We see a female NEMO carrier with extreme skewing and symptomatic arthritis and uveitis - both only (but well) responsive to anti-TNFa.

Best wishes, Carsten Speckmann
-- 
Dr. med. Carsten Speckmann 
Funktionsoberarzt / Consultant Immunologist
Zentrum fuer Kinderheilkunde und Jugendmedizin 
Centrum fuer Chronische Immundefizienz - CCI 
Universitaet Freiburg 
Mathildenstr. 1 
79106 Freiburg 
Germany 

phone: +49 (0)761-270 43010
fax: +49 (0)761-270 45990 
carsten.speckmann at uniklinik-freiburg.de 
www.cci.uniklinik-freiburg.de

Am 23.10.2014 um 06:35 schrieb Klaus Warnatz <klaus.warnatz at uniklinik-freiburg.de>:

> I agree with the previous comments, multiplex PCRmight help to reveal the underlying pathogen, because some of the them are poor to culture. atypical mycobacterial infection should be rouled out this way, cultures should be performed anyway and also fungal infection may play a role. And oddly enough I would try serology, we saw in one of our CVID patients an IgM response against borrelia after acute infection. 
> Did you have  chance to look at the T cell phenotype of the patient?
> 
> greetings
> 
> Klaus
> Prof. Dr. med. Klaus Warnatz
> 
> UNIVERSITÄTSKLINIKUM FREIBURG
> University Medical Center Freiburg
> Center for Chronic Immunodeficiency
> Division of Rheumatology and Clinical Immunology
> 
> Tel: +49-761-270-77640 / FAX -71000 / Pager: 12-7100
> 
> Breisacher Str. 117, 79106 Freiburg, Germany
> klaus.warnatz at uniklinik-freiburg.de
> http://www.uniklinik-freiburg.de/cci
> 
> Am 22.10.2014 um 22:07 schrieb Cunningham-Rundles, Charlotte:
> 
>> Hello all,
>> 
>> We are hoping to get some insight and suggestions on an interesting but confusing case of a patient with NEMO syndrome and now a rash and arthritis.
>>  
>> Patient is a 28yo man diagnosed with immunodeficiency at a young age and with NEMO at age 12y at the NIH.  His course has been complicated by Neiserria meningitis and disseminated MAC infection but overall he has been doing well.  We switched from IVIGto Hizentra earlier this year, and his IgG levels are good.
>>  
>> Roughly three months ago (after a camping trip to Lake Placid) he developed skin lesions which were not painful or itchy but had  a crusted, granulomatous appearance with a few odd satellites.   He developed about 5 in total (3 on his arms and 2 on his legs) and they are slow to heal.   Does not recall being bitten; no accompanying fever.  Saw a local dermatologist who put him on a 2-3 week course of doxycycline but no biopsy.
>>  
>> In addition, for the past 2 months, he has noted a migrating polyarticularl arthritis, predominantly involving his left MCPs, left elbow and left great toe.  Acutely worsened this week and increased swelling to the point of difficulty opening his hand.
>>  
>> Labs notable for CRP only slightly elevated at 5.9.
>>  
>> We have sent him to derm and rheum this week.  Derm biopsy so far with granulomatous dermatitis; and fluid aspiration with no crystals.  All cultures pending.
>>  
>> We are concerned for a reactive arthritis.  Possible mycobacterial infection.  Possible Lyme, although he was treated and cannot adequately test him, given Ig replacement.
>> 
>> He is on daily azithromycin/moxifloxacin/ethambutol for the MAC history.
>> 
>> We are considering adding back doxycycline and would like to avoid immunosuppression.  
>> 
>> Any thoughts  and advice  on workup and treatment are welcome. 
>> 
>> 
>> Charlotte 
>> 
>> 
>> 
>> 
>> Charlotte Cunningham-Rundles, MD, PhD
>> Departments of Medicine and Pediatrics
>> The David S Gottesman Professor
>> The Immunology Institute
>> Mount Sinai School of Medicine
>> 1425 Madison Avenue
>> New York, NY 10029
>> Phone: 212 659 9268
>> Fax: 212 987 5593
>> Email: Charlotte.Cunningham-Rundles at mssm.edu
>> 
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