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

[Giclas, Patsy]

Dear Dr Waqar,
There is an association, as you say, with C1r deficiency and SLE, and also with increased risk of infection.  Before going to genetic assays it might be helpful to measure C1 function by a specific assay.  C1r deficiency is very rare and is usually seen along with C1s deficiency, since the two proteins are produced by genes that lie together on chromosome 12p13.  The low C8 is a bit troubling as well.  C8 has three subunits (alpha, beta and gamma) that are all required for function.  The alpha and beta units are on chromosome 1p32 and  gamma is 9q34.3.  If any one of these is missing, the result of protein measurement looks like "low C8" level, but could be a functional deficiency related to one of the subunits being absent.  The best way to determine this is to look at the function of the C8 by itself.

Patricia C. Giclas, PhD
Professor, Pediatric allergy and Immunology
Advisor, Complement Laboratory
National Jewish Health
1400 Jackson St, Denver CO 80206
303-398-1217
Giclasp at njhealth.org

On 8/28/14 9:05 AM, "Waqar, Shaan" <SWaqar at NSHS.edu<mailto: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

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