[CIS PIDD] [cis-pidd] C1q deficiency

[CIS-PIDD]

Thanks, Kate. I meant to ask specifically if there is other
biochemical testing that others would suggest to confirm or deny c1q
deficiency. What features push you away from c1q deficiency? We were
planning on sequencing as well. I've never sent lab tests abroad, but will
look for that. Thanks for the links.

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:

> I’m not totally persuaded this is C1q deficiency but if it is the survival
> is poor and BMT is definitely on the table.  FFP can be tried as a
> replacement but it is big endeavor. The half life is not long.
>
> The recent cases have come from WES but two options on the link below.
>
>
> https://www.genetests.org/search/search.php?search=c1q&submit=Search&start=0
>
>
> 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 Jan 29, 2016, at 5:40 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org
> <javascript:_e(%7B%7D,'cvml','cis-pidd at lists.clinimmsoc.org');>> wrote:
>
> 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
>
>
>
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-- 
Dominic

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