C1QA
Overview
C1QA encodes the A-chain of complement component C1q, the recognition subunit of the classical complement pathway. Germline loss-of-function variants in C1QA cause C1Q deficiency, a rare autosomal recessive immunodeficiency characterized by susceptibility to systemic lupus erythematosus and recurrent infections including hemophagocytic lymphohistiocytosis (HLH).
Alterations observed in the corpus
- C1QA homozygous Q208* nonsense germline variant diagnostic of C1Q deficiency in a 2-year-old presenting with HLH; identified in the PIPseq pediatric precision-oncology cohort (Table 4) PMID:28007021
Cancer types (linked)
- C1Q deficiency identified in a pediatric patient presenting with HLH; germline finding with immunodeficiency implications rather than a primary malignancy driver PMID:28007021
Co-occurrence and mutual exclusivity
- No co-mutation data in this corpus.
Therapeutic relevance
- C1QA Q208* established diagnosis of C1Q deficiency; clinical management implications for immunodeficiency treatment rather than targeted oncology therapy PMID:28007021
Open questions
- Relationship between C1Q deficiency, complement pathway dysfunction, and increased cancer predisposition remains an open question.
Sources
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