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C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.
No clinical trials have been registered for C1Q deficiency.
21 publications have been identified in PubMed for C1Q deficiency. Research spans Case Report / Case Series (48%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 10 | 48% |
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC
Genetic and Rare Diseases Info Center
Common questions about C1Q deficiency
7 |
33% |
Disease patterns and progression | 2 | 10% |
Research summaries | 1 | 5% |
New treatment approaches | 1 | 5% |
Triaille C (2026). [PMID: 42170328](https://pubmed.ncbi.nlm.nih.gov/42170328/). *J Hum Immun*. [Case Report / Case Series]
Mottaghipisheh H (2026). [PMID: 42147803](https://pubmed.ncbi.nlm.nih.gov/42147803/). *Case Reports Immunol*. [Case Report / Case Series]
Righes Marafiga J (2026). [PMID: 41544964](https://pubmed.ncbi.nlm.nih.gov/41544964/). *Progress in neurobiology*. [Basic Science / Preclinical]
Chao C (2025). [PMID: 39933844](https://pubmed.ncbi.nlm.nih.gov/39933844/). *BMJ case reports*. [Case Report / Case Series]
Dogra A (2025). [PMID: 40429614](https://pubmed.ncbi.nlm.nih.gov/40429614/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Parlar K (2025). [PMID: 40316395](https://pubmed.ncbi.nlm.nih.gov/40316395/). *Reumatologia clinica*. [Case Report / Case Series]
Carter-Cusack D (2025). [PMID: 39869647](https://pubmed.ncbi.nlm.nih.gov/39869647/). *PLoS genetics*. [Case Report / Case Series]
Lorenzo MN (2025). [PMID: 39178162](https://pubmed.ncbi.nlm.nih.gov/39178162/). *Archivos argentinos de pediatria*. [Case Report / Case Series]
Haque I (2025). [PMID: 40556690](https://pubmed.ncbi.nlm.nih.gov/40556690/). *Rheumatology advances in practice*. [Review / Meta-Analysis]
Markand S (2025). [PMID: 39314009](https://pubmed.ncbi.nlm.nih.gov/39314009/). *Current eye research*. [Basic Science / Preclinical]