[CIS PIDD] [cis-pidd] C1q deficiency

[CIS-PIDD]

Dominic,

Please consider also an antibody to C1q.  This is available in the Complement Lab at National Jewish.  Be careful that the lab staff sending this know that you want the antibody, not the protein.

Stan

Stanley J. Naides, M.D., F.A.C.P., F.A.C.R.
Medical Director, Immunology R&D | Interim Scientific Director, Immunology R&D
Quest Diagnostics | Action from Insight | 33608 Ortega Highway| San Juan Capistrano, CA 92675| phone: 949-728-4578| fax: 949-728-7852
stanley.j.naides at QuestDiagnostics.com<mailto:stanley.j.naides at QuestDiagnostics.com>
[cid:image003.jpg at 01D07839.4ADA64C0]

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Friday, January 29, 2016 2:40 PM
To: CIS-PIDD
Subject: [cis-pidd] C1q deficiency

I would like the opinion of the group regarding a 5 yo girl who presented with an SLE like syndrome whom I suspect of a C1q deficiency.

She presented 4/2015 with arthralgias, malar rash and on further workup was found to have:
- ANA > 1:2560, anti-dsDNA 5235, positive SS-A
- Coombs + anemia, leukopenia, lymphopenia
- C3: 25 (normal 84-168), C4: < 6 (normal 13-44)
- Renal Bx showed Class IV SLE nephritis with large blood, nephrotic range proteinuria (protein:creat ratio 4-8) and low albumin (3.3)

Received PCV13 about 2 weeks prior to presentation. Whole family was ill with GI bug around the time of presentation. She had a history of sinusitis that did not clear up with antibiotics, but has not had any other serious infections and has consistently been in 80%ile for ht/wt (until we started steroids and her wt is >99.9999%ile)

We treated her with steroids and mycophenolate, but though she has some initial improvement in complements in the first few months, her complements were still borderline (C3 – 80-90 (normal 89-168 in our lab), C4 – 8-9 (normal 13-44 in our lab) and protein:creat ratio hovered around 1. Repeat renal Bx shows persistent class IV nephritis, with no significant fibrosis, so we pulsed her and are starting Cytoxan.

However, in the meantime, we sent C1q/r/s and C2. C1r/s pending. C1q level at Quest < 3.6 (below assay limit, normal 5-8.6) and C2 level 1.4 (normal 1.6-3.6 in our lab).

I am planning to repeat complement studies at National Jewish to confirm.

My questions:
1. Does anyone know of a lab that does clinical sequencing of C1q?
2. What would you suggest for treatment if cytoxan doesn't work for her nephritis. I've seen FFP infusions and BMT, though BMT seems a little extreme.

Thanks in advance for any insight you can offer,

Dominic

Dominic Co, MD PhD
Assistant Professor
Medical College of Wisconsin
Milwaukee, WI



---

You are currently subscribed to cis-pidd as: stanley.j.naides at questdiagnostics.com<mailto:stanley.j.naides at questdiagnostics.com>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396902.7a624ee46c47ff7122f19426f405b03b&n=T&l=cis-pidd&o=3444710

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3444710-96396902.7a624ee46c47ff7122f19426f405b03b at lyris.dundee.net<mailto:leave-3444710-96396902.7a624ee46c47ff7122f19426f405b03b at lyris.dundee.net>

______________________________________________________________________
The contents of this message, together with any attachments, are intended only for the use of the person(s) to which they are addressed and may contain confidential and/or privileged information. Further, any medical information herein is confidential and protected by law. It is unlawful for unauthorized persons to use, review, copy, disclose, or disseminate confidential medical information. If you are not the intended recipient, immediately advise the sender and delete this message and any attachments. Any distribution, or copying of this message, or any attachment, is prohibited.

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3445738
or send a blank email to leave-3445738-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160130/3e7ea091/attachment-0001.html>
-------------- next part --------------
A non-text attachment was scrubbed...
Name: image003.jpg
Type: image/jpeg
Size: 7680 bytes
Desc: image003.jpg
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160130/3e7ea091/attachment-0001.jpg>