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

[Verbsky, James]

Bob

Any evidence of IBD, eczema, or chronic viral infections??  T cell mitogens??  I agree that this is unlikely to be IPEX, but as just mentioned Stat5 or CD25 could be analyzed as IPEX like syndromes if there are other associated illnesses.  IF these are not present and mitogens are normal..these are less likely.

Best

James


James W. Verbsky MD/PhD
Associate Professor of Pediatrics and Medical Microbiology and Genetics
Medical College of Wisconsin
Milwaukee, WI  53211
jverbsky at mcw.edu
414-266-6701 (phone)
414-266-6695 (fax)



-----Original Message-----
From: Nelson, Robert P Jr [mailto:ronelson at iupui.edu] 
Sent: Friday, October 19, 2012 11:15 AM
To: CIS-PIDD
Subject: [cis-pidd] another case, multiple autoimmune diseases

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.
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