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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.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Autoimmunity
MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Nephritis
MedGen UID:
14328
Concept ID:
C0027697
Disease or Syndrome
The presence of inflammation affecting the kidney.
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.
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.

Term Hierarchy

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

Recent clinical studies

Diagnosis

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

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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