Complement C1s deficiency in a male Caucasian patient with systemic lupus erythematosus: A case report

This study involves whole genome sequencing of a 34-year-old male with a rare deficiency in complement component C1s, linked to systemic lupus erythematosus (SLE). Genomic analysis revealed two novel mutations in the C1S gene, resulting in absent C1s protein and impaired classical complement pathway function. The goal was to confirm the C1s deficiency and identify the specific mutations causing this condition.

Type: Whole Genome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000988	This dataset includes two FASTQ files (R1 and R2) from an Illumina germline nuclear DNA whole-genome sequencing run of a single sample. The sample corresponds to a 34-year-old male with a rare deficiency in complement component C1s, linked to systemic lupus erythematosus (SLE). Genomic analysis revealed two novel mutations in the C1S gene.	Illumina NovaSeq 6000	1

Publications	Citations
Complement C1s deficiency in a male Caucasian patient with systemic lupus erythematosus: a case report. Kleer JS, Skattum L, Dubler D, Fischer I, Zgraggen A, Mundwiler E, Kim MJ, Trendelenburg M. Front Immunol 14: 2023 1257525	2