Two siblings with monogenic lupus due to C1qC deficiency and case based review.

Monogenic lupus is an extremely rare clinical condition in children. Defects in the complement pathway are the most common causes of monogenic lupus. C1qC deficiency is one of the defects in this pathway and is even rarer. Herein, we present two cases of monogenic lupus diagnosed with C1qC deficiency in siblings. In addition, a literature search was conducted for articles on monogenic lupus due to C1qC deficiency. We found 14 articles. Our literature search identified 17 paediatric patients with monogenic lupus associated with C1qC deficiency. 10 (58%) of the reported patients were female. The median age at diagnosis of patients in the literature was 3 years. Mucocutaneous involvement was remarkable in all cases of C1qC deficiency. Joint involvement was reported in about half of the cases. Approximately half of the reported cases has suffered from recurrent infections. 38% of the cases have had CNS involvement and 25% of these had nephritis. While both of our patients had mucocutaneous involvement, one of our patients had recurrent EBV infection. ANA was positive, anti-dsDNA was negative, C3-C4 levels were normal in almost all cases in the reported cases. The anti-Sm and anti-SSA positivities of these cases were also remarkable. These laboratory findings were similar in our patients. The G34R mutation of the C1qC gene is the most common genetic defect identified to date. We found a GRCh38/Hg38 1p36.12 homozygous deletion in the C1qC gene in both of our patients. It is necessary to investigate the causes of monogenic lupus in patients with early-onset lupus, history of consanguineous marriages, and antibody positivity.