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

[dmvascon at usp.br]

Dear Bob, good afternoon 

I would think initially in a STAT5b deficiency, that presents proportionate nanism with low IGF-1, not responsive to GH, autoimmunity due to disturbances of T cell apoptosis and immunodeficiency. They usually present chronic pulmonary disease. Depending on the mutation, there could be low phosphorylation of STAT5 after stimulation with IL2 in vitro. 

You can contact Kari Nadeau at Stanford for testing your patient. 

All the best, 

Dewton de Moraes Vasconcelos 
University of São Paulo School of Medicine 

----- Mensagem original -----


> De: "Robert P Nelson Jr" <ronelson at iupui.edu>

> Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>

> Enviadas: Sexta-feira, 19 de Outubro de 2012 13:15:20

> Assunto: [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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