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Article

Carrier detection in families with properdin deficiency by microsatellite haplotyping.

The Journal of clinical investigation - 1 Jan 1993

Kölble K, Cant A J, Fay A C, Whaley K, Schlesinger M, Reid K B

Abstract excerpt

Human properdin deficiency is an X-linked disorder strongly predisposing to meningococcal disease which has been recorded in over 50 cases of various ethnic origins. Immunochemically, total deficiency (type I), partial deficiency (type II), and deficiency due to a dysfunctional molecule (type III) can be differentiated. It is therefore most likely that the causative molecular defects will show considerable...

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Source

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Identifiers

PMID: 8423238
DOI: 10.1172/JCI116207
PMCID: PMC330001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Carrier detection in families with properdin deficiency by microsatellite haplotyping.PMID 8423238Read ↗

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Properdin deficiency and meningococcal disease—identifying those most at riskSemantic proximity Read ↗

Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n)Semantic proximity Read ↗

Properdin deficiency: molecular basis and disease association.Semantic proximity Read ↗

Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchangeSemantic proximity Read ↗

[Properdin mutations a risk factor for meningitis].Semantic proximity Read ↗

Human properdin deficiency has a heterogeneous genetic background.Semantic proximity Read ↗

Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome.Semantic proximity Read ↗

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