[CIS PIDD] [cis-pidd] Question: Autoimmune disease and Genetic testing in C1r deficiency

[Sullivan, Kathleen]

Having a low level of a complement protein is not indicative of a deficiency.  With very rare exceptions a complement deficiency (particularly early complement components) should be associated with a CH50 of zero and absent function.  Complement is developmentally regulated and therefore low levels in an infant are more likely to due to developmental aspects than genetics.

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 Aug 28, 2014, at 11:05 AM, Waqar, Shaan <SWaqar at NSHS.edu> wrote:

> Dear group,
>  
> We recently evaluated a 14 month old boy for complement deficiency.  He was found to have low levels of C8 and CH50, and was subsequently found to have a C1r deficiency (49.5% with normal reference range being 61-162%). 
>  
> He has normal levels of C1q, C1s and Factors B, H, and I.
>  
> We know there is an association with complete C1r deficiency and the development of SLE and lupus-like syndromes, with cutaneous and renal manifestations.
>  
> We were looking for anticipatory guidance in patients with partial C1r deficiency.
>  
> We were also looking for input as to whether genetic testing would be necessary or change management.  We suspect heterozygous rather than homozygous C1r deficiency given the level of 49.5%.
>  
> I look forward to any additional input.
>  
> Thanking you,
> Sincerely,
>  
> Shaan Waqar
> Fellow
> ---
> The CIS-PIDD listserv is supported by:
> 
> 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=45409756
> 
> The information contained in this electronic e-mail transmission and any attachments are intended only for the use of the individual or entity to whom or to which it is addressed, and may contain information that is privileged, confidential and exempt from disclosure under applicable law. If the reader of this communication is not the intended recipient, or the employee or agent responsible for delivering this communication to the intended recipient, you are hereby notified that any dissemination, distribution, copying or disclosure of this communication and any attachment is strictly prohibited. If you have received this transmission in error, please notify the sender immediately by telephone and electronic mail, and delete the original communication and any attachment from any computer, server or other electronic recording or storage device or medium. Receipt by anyone other than the intended recipient is not a waiver of any attorney-client, physician-patient or other privilege.


---
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=45410804
or send a blank email to leave-45410804-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20140828/614717d4/attachment-0001.html>