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)

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)

Properdin deficiency was demonstrated in three generations of a large Swiss family. The concentration of circulating properdin in affected males was

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Clinical and experimental immunology 1999-11, Vol.118 (2), p.278-284
Hauptverfasser: SPÄTH, P. J, SJÖHOLM, A. G, WADELIUS, C, TRUEDSSON, L, FREDRIKSON, G. N, MISIANO, G, SCHERZ, R, SCHAAD, U. B, UHRING-LAMBERT, B, HAUPTMANN, G, WESTBERG, J, UHLEN, M
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
Aged
Aged, 80 and over
Biological and medical sciences
Child
Child, Preschool
Codon, Terminator - genetics
Complement Activation - genetics
Complement C4 - genetics
complement deficiency
Female
Humans
IgG2 allotype
Immunodeficiencies
Immunodeficiencies. Immunoglobulinopathies
immunoglobulin G2
Immunoglobulin Gm Allotypes - genetics
Immunopathology
Male
Medical sciences
Meningitis, Meningococcal - genetics
Meningitis, Meningococcal - immunology
meningococcal meningitis
Middle Aged
Neisseria meningitidis
Original
Pedigree
Polymorphism, Genetic - genetics
properdin
Properdin - deficiency
Properdin - genetics
Sequence Analysis, DNA
Switzerland
X‐chromosome
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Properdin deficiency was demonstrated in three generations of a large Swiss family. The concentration of circulating properdin in affected males was
ISSN:0009-9104
1365-2249
DOI:10.1046/j.1365-2249.1999.01056.x