[CIS PIDD] [cis-pidd] C1q deficiency

[CIS-PIDD]

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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