[CIS PIDD] [cis-pidd] C1q deficiency

Sat Jan 30 07:02:18 EST 2016

Dear Dominic,

I would suggest to make contact with Prof Margarita López Trascasa for
genetic evaluation.

Margarita López Trascasa

Unidad de Inmunología-Hospital Universitario La Paz - IdiPAZ - CIBERER

Profesor Asociado de Inmunología. Universidad Autónoma de Madrid

Hospital Infantil. Planta Sótano

Paseo de la Castellana, 261

28046 Madrid

Tel: 91 2071463; FAX: 91 7277095

e-mail: mltrascasa at salud.madrid.org; mlopeztrascasa at gmail.com

Have you evaluated parents' levels of complement components?

Best regards

Anete

2016-01-30 0:43 GMT-02:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:

> Thanks, Ashley. That would be helpful. Maybe others on the listserv would
> also be interested in what else included in the panel?
>
> Thanks,
>
> Dominic
>
> Dominic Co, MD PhD
> Assistant Professor
> Medical College of Wisconsin
> Milwaukee, WI
> dco at mcw.edu
> dominic.co at gmail.com
> On Friday, January 29, 2016, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
> wrote:
>
>> Hello Dominic,
>>
>>
>>
>> If you are able to send the complement for confirmation, can I suggest
>> you add a C2 function, in case it is a type II deficiency.  It may be
>> useful to add testing for circulating immune complexes as there is already
>> signs of autoimmune.
>>
>>
>>
>> We are working on a panel of 50 complement genes, but it is still in
>> research and validation.  I can verify that C1q is included if that would
>> be helpful.
>>
>>
>>
>> Regards,
>>
>> Ashley
>>
>>
>>
>> Ashley Frazer-Abel, PhD, D(ABMLI)
>>
>> Director, Complement Laboratory
>> 303.270.2546 Office
>> 303.270.2541 Laboratory
>> 303.270.2185 Fax
>>
>> 303.588.4334 Cell
>> *Frazer-AbelA at njhealth.org*
>> njlabs.org |njhealth.org
>>
>>
>>
>> *From:* CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
>> *Sent:* Friday, January 29, 2016 3:40 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: frazer-abela at njhealth.org.
>>
>> To unsubscribe click here:
>> http://cts.dundee.net/u?id=101576934.3a6799332c154abb0684b81204e3b045&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-3444710-101576934.3a6799332c154abb0684b81204e3b045 at lyris.dundee.net
>>
>> NOTICE: This email message is for the sole use of the intended
>> recipient(s) and may contain confidential and privileged information. Any
>> unauthorized review, use, disclosure or distribution is prohibited. If you
>> are not the intended recipient, please contact the sender by reply email
>> and destroy all copies of the original message.  
>>
>> ---
>>
>> You are currently subscribed to cis-pidd as: dominic.co at gmail.com.
>>
>> To unsubscribe click here:
>> http://cts.dundee.net/u?id=96396488.4ae23f2fa52ccfb3cee782cb12ef8e36&n=T&l=cis-pidd&o=3444729
>>
>> (It may be necessary to cut and paste the above URL if the line is broken)
>>
>> or send a blank email to
>> leave-3444729-96396488.4ae23f2fa52ccfb3cee782cb12ef8e36 at lyris.dundee.net
>>
>
>
> --
> Dominic
>
> ---
>
> You are currently subscribed to cis-pidd as: asgrumach at gmail.com.
>
> To unsubscribe click here:
> http://cts.dundee.net/u?id=96396408.3690f87a3fc89813986f6333f6643a2a&n=T&l=cis-pidd&o=3444967
>
> (It may be necessary to cut and paste the above URL if the line is broken)
>
> or send a blank email to
> leave-3444967-96396408.3690f87a3fc89813986f6333f6643a2a at lyris.dundee.net
>

-- 
Anete S Grumach, MD, PhD
Outpatient group of Recurrent Infections
Laboratory of Clinical Immunology
Profa Livre Docente do Depto Clínica Médica
Faculdade de Medicina ABC, São Paulo
anete at grumach.com
55.11.32845335

---
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=3445362
or send a blank email to leave-3445362-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160130/c2ea1eea/attachment-0001.html>