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

[Waqar, Shaan]

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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