Name: C1 inhibitor deficiency | Acronym: C1ID
Alt. names: Complement component 4, partial deficiency of

Gene: SERPING1 | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1995

Last updated on: 2023-02-28 16:41:18 by

OMIM: 120790

Orphanet: 459353

MONDO: -

DOID: -

ClinGen:

Muir et al. (1984) described a partial deficiency of C4 in a kindred ascertained through a 26-year-old woman with systemic lupus erythematosus. Six healthy members of the family also had partial deficiency of C4. The inheritance pattern was autosomal dominant with involved persons in 4 sibships of 2 generations (and by inference in a third earlier generation) and with male-to-male transmission. This form of C4 deficiency differs from that in previously reported families in the mode of inheritance, in the marked reduction of C4 levels (2-5% of normal in the proband; 2.4-24.1% of normal in healthy relatives), and in the lack of linkage to HLA, BF and the C4 structural loci

Description of management option has not been reviewed yet.