[CIS PIDD] [cis-pidd] another case, multiple autoimmune diseases

[Sullivan, Kathleen]

There are not infrequently antibodies to factor H-like proteins.

On Oct 19, 2012, at 12:15 PM, Nelson, Robert P Jr wrote:


> Dear All,

> 14 yr old female with developmental delay, DM type 1, hypothyroidism, new onset Addison's, myasthenia gravis.  No evidence of thymoma.  APS-2 most likely.  Autoimmune regulator (AIRE) gene normal.  Don't think it is IPEX.  Now with variant of hemolytic uremic syndrome quite severe but responding to pulse solumedrol and plasmaperesis, CVVH support.  

> 

> Thoughts, suggestions for further work-up?  Thx.

> 

> Bob Nelson, M.D.  

> ________________________________________

> From: Nicole Chase [nchase.md at gmail.com]

> Sent: Friday, October 19, 2012 11:58 AM

> To: CIS-PIDD

> Cc: Miller, Elizabeth; jatkinso at DOM.wustl.edu

> Subject: Re: [cis-pidd] symptomatic C3Nef in otherwise healthy child

> 

> Hi Esther,

> 

> During fellowship, I helped care for a patient who developed meningococcal meningosepsis at age 18 (also with serogroup Y), with no prior history of infection, renal disease, or lipodystrophy. He was ultimately found to have a C4Nef. To my knowledge, he has done very well in the 2+ years since his initial presentation, with no new symptoms or serious infections. He has antibiotics with him to begin for signs/symptoms of illness.

> 

> His case is currently in press in Clinical Immunology. Drs. Elizabeth Miller and John Atkinson from Washington University in St. Louis performed the diagnostic experiments, and are cc'd on this reply. I believe that they did find evidence of a C3-NeF (low titer positive), and this was attributed to the presence of the C4Nef. (It is my understanding that patients who are diagnosed with a C3Nef may actually have a C4Nef, as this is not routinely screened for.)

> 

> Interestingly, our patient also had evidence of poor antibody response to polysaccharide antigens (eg, 2/23 pneumococcal serotypes post-vaccination, 1/4 meningococcal serotypes post-vaccination). I believe he is currently receiving yearly PPV23, MCV4, and HiB vaccines. (I cannot recall if we ever gave him PCV-13, based on his poor polysaccharide response.) It would be interesting to know if your patient had any similar findings.

> 

> Cheers,

> Nicki Chase

> 

> Nicole Chase, MD

> Midwest Immunology Clinic

> Plymouth, MN

> 

> On Fri, Oct 19, 2012 at 3:18 AM, Dr. Esther de Vries <esid at estherdevries.nl<mailto:esid at estherdevries.nl>> wrote:

> I follow a 7-year-old girl who since 1.5 years has had serious infectious problems (meningitis meningococcus serogroup Y, 2x pneumonia, recurrent otitis media), but was previously healthy. Investigation showed strongly reduced C3, normal C4 and strongly increased C3d on several occasions. C3 nephritic factor (C3Nef) was repeatedly found. She has no renal disease, she also did not develop this during follow-up, no lipodystrophy, and no other signs of auto-immunity. Her family history is unremarkable. She is now stable after vaccinations and being on antibiotic prophylaxis.

> 

> My question is: do you have patients like this? Any ideas as to prognosis?

> 

> Happy to receive your input! Thanks, Esther de Vries, Jeroen Bosch Hospital, 's-Hertogenbosch, the Netherlands.

> ---

> The CIS-PIDD listserv is supported by the Clinical Immunology Society

> The science & practice of human immunology

> 

> P: +1.414.224.8095<tel:%2B1.414.224.8095>

> E: info at clinimmsoc.org<mailto:info at clinimmsoc.org>

> 

> Not a member of CIS? Please visit www.clinimmsoc.org<http://www.clinimmsoc.org> to join!

> 

> You are currently subscribed to cis-pidd as: nchase.md at gmail.com<mailto:nchase.md at gmail.com>.

> To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183824415.5c37c121e015fe5170f92e74f077b7a2&n=T&l=cis-pidd&o=42013053

> or send a blank email to leave-42013053-183824415.5c37c121e015fe5170f92e74f077b7a2 at lists.clinimmsoc.org<mailto:leave-42013053-183824415.5c37c121e015fe5170f92e74f077b7a2 at lists.clinimmsoc.org>

> 

> 

> ---

> 

> The CIS-PIDD listserv is supported by:

> 

> [http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]

> The science & practice of human immunology

> 

> P: +1.414.224.8095

> E: info at clinimmsoc.org

> 

> Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup> to join!

> 

> You are currently subscribed to cis-pidd as: ronelson at iupui.edu<mailto:ronelson at iupui.edu>.

> To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183824688.f259da986c16f478bc98c1c82d273db2&n=T&l=cis-pidd&o=42014463

> 

> 

> ---

> The CIS-PIDD listserv is supported by the Clinical Immunology Society

> The science & practice of human immunology

> 

> P: +1.414.224.8095

> E: info at clinimmsoc.org

> 

> Not a member of CIS? Please visit www.clinimmsoc.org to join!

> 

> You are currently subscribed to cis-pidd as: sullivak at mail.med.upenn.edu.

> To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183824771.d123d252090ca5b0b32c510b919da279&n=T&l=cis-pidd&o=42014533

> or send a blank email to leave-42014533-183824771.d123d252090ca5b0b32c510b919da279 at lists.clinimmsoc.org


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



---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=42015276
or send a blank email to leave-42015276-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org