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Complement component C1r/C1s deficiency

MedGen UID:
461624
•Concept ID:
C3150274
•
Disease or Syndrome
Synonym: C1r/C1s DEFICIENCY
 
Monarch Initiative: MONDO:0009005
OMIM®: 216950

Definition

Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. [from NCI]

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
•Concept ID:
C0003862
•
Sign or Symptom
Joint pain.
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Arthritis
MedGen UID:
2043
•Concept ID:
C0003864
•
Disease or Syndrome
Inflammation of a joint.
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Recurrent bronchitis
MedGen UID:
148159
•Concept ID:
C0741796
•
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
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Autoimmunity
MedGen UID:
2136
•Concept ID:
C0004368
•
Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
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Nephritis
MedGen UID:
14328
•Concept ID:
C0027697
•
Disease or Syndrome
The presence of inflammation affecting the kidney.
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Reduced circulating complement concentration
MedGen UID:
82898
•Concept ID:
C0272242
•
Disease or Syndrome
An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.
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Discoid lupus erythematosus
MedGen UID:
1811126
•Concept ID:
C5574816
•
Disease or Syndrome
Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVComplement component C1r/C1s deficiency

Recent clinical studies

Diagnosis

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 2023;14:1257525. Epub 2024 Feb 26 doi: 10.3389/fimmu.2023.1257525. PMID: 38469558Free PMC Article

Clinical prediction guides

Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene.
Amano MT, Ferriani VP, Florido MP, Reis ES, Delcolli MI, Azzolini AE, Assis-Pandochi AI, Sjöholm AG, Farah CS, Jensenius JC, Isaac L
Mol Immunol 2008 Mar;45(6):1693-702. Epub 2007 Nov 19 doi: 10.1016/j.molimm.2007.09.034. PMID: 18062908

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