Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome. / Schejbel, Lone; Rosenfeldt, Vibeke; Marquart, Hanne; Valerius, Niels Henrik; Garred, Peter.

In: Clinical Immunology, Vol. 131, No. 3, 2009, p. 456-462.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Schejbel, L, Rosenfeldt, V, Marquart, H, Valerius, NH & Garred, P 2009, 'Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome', Clinical Immunology, vol. 131, no. 3, pp. 456-462. https://doi.org/10.1016/j.clim.2009.02.008

APA

Schejbel, L., Rosenfeldt, V., Marquart, H., Valerius, N. H., & Garred, P. (2009). Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome. Clinical Immunology, 131(3), 456-462. https://doi.org/10.1016/j.clim.2009.02.008

Vancouver

Schejbel L, Rosenfeldt V, Marquart H, Valerius NH, Garred P. Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome. Clinical Immunology. 2009;131(3):456-462. https://doi.org/10.1016/j.clim.2009.02.008

Author

Schejbel, Lone ; Rosenfeldt, Vibeke ; Marquart, Hanne ; Valerius, Niels Henrik ; Garred, Peter. / Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome. In: Clinical Immunology. 2009 ; Vol. 131, No. 3. pp. 456-462.

Bibtex

@article{48cdc1c0537411df928f000ea68e967b,
title = "Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome",
abstract = "Properdin is an initiator and stabilizer of the alternative complement activation pathway (AP). Deficiency of properdin is a rare X-linked condition characterized by increased susceptibility to infection with Neisseria meningitidis associated with a high mortality rate. We report properdin deficiency in a large Pakistani family. The index cases were found by screening for immunodeficiency due to a history of recurrent infections. This revealed absent AP activity, but normal classical and lectin pathway activity. Sequencing of the properdin gene (PFC) revealed a novel frameshift mutation. When all available relatives (n=24) were screened for the mutation, four affected males, four female carriers and a male heterozygous carrier were identified. He was subsequently diagnosed with Klinefelter syndrome. A questionnaire revealed a striking association between properdin deficiency and recurrent otitis media (P=0.0012), as well as recurrent pneumonia (P=0.0017). This study is the first to show a significant association between properdin deficiency and recurrent infections.",
author = "Lone Schejbel and Vibeke Rosenfeldt and Hanne Marquart and Valerius, {Niels Henrik} and Peter Garred",
note = "Keywords: Female; Genetic Predisposition to Disease; Heterozygote; Humans; Klinefelter Syndrome; Male; Mutation; Otitis Media; Pedigree; Pneumonia; Properdin; Questionnaires; Recurrence; Retrospective Studies",
year = "2009",
doi = "10.1016/j.clim.2009.02.008",
language = "English",
volume = "131",
pages = "456--462",
journal = "Clinical Immunology",
issn = "1521-6616",
publisher = "Academic Press",
number = "3",

}

RIS

TY - JOUR

T1 - Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome

AU - Schejbel, Lone

AU - Rosenfeldt, Vibeke

AU - Marquart, Hanne

AU - Valerius, Niels Henrik

AU - Garred, Peter

N1 - Keywords: Female; Genetic Predisposition to Disease; Heterozygote; Humans; Klinefelter Syndrome; Male; Mutation; Otitis Media; Pedigree; Pneumonia; Properdin; Questionnaires; Recurrence; Retrospective Studies

PY - 2009

Y1 - 2009

N2 - Properdin is an initiator and stabilizer of the alternative complement activation pathway (AP). Deficiency of properdin is a rare X-linked condition characterized by increased susceptibility to infection with Neisseria meningitidis associated with a high mortality rate. We report properdin deficiency in a large Pakistani family. The index cases were found by screening for immunodeficiency due to a history of recurrent infections. This revealed absent AP activity, but normal classical and lectin pathway activity. Sequencing of the properdin gene (PFC) revealed a novel frameshift mutation. When all available relatives (n=24) were screened for the mutation, four affected males, four female carriers and a male heterozygous carrier were identified. He was subsequently diagnosed with Klinefelter syndrome. A questionnaire revealed a striking association between properdin deficiency and recurrent otitis media (P=0.0012), as well as recurrent pneumonia (P=0.0017). This study is the first to show a significant association between properdin deficiency and recurrent infections.

AB - Properdin is an initiator and stabilizer of the alternative complement activation pathway (AP). Deficiency of properdin is a rare X-linked condition characterized by increased susceptibility to infection with Neisseria meningitidis associated with a high mortality rate. We report properdin deficiency in a large Pakistani family. The index cases were found by screening for immunodeficiency due to a history of recurrent infections. This revealed absent AP activity, but normal classical and lectin pathway activity. Sequencing of the properdin gene (PFC) revealed a novel frameshift mutation. When all available relatives (n=24) were screened for the mutation, four affected males, four female carriers and a male heterozygous carrier were identified. He was subsequently diagnosed with Klinefelter syndrome. A questionnaire revealed a striking association between properdin deficiency and recurrent otitis media (P=0.0012), as well as recurrent pneumonia (P=0.0017). This study is the first to show a significant association between properdin deficiency and recurrent infections.

U2 - 10.1016/j.clim.2009.02.008

DO - 10.1016/j.clim.2009.02.008

M3 - Journal article

C2 - 19328743

VL - 131

SP - 456

EP - 462

JO - Clinical Immunology

JF - Clinical Immunology

SN - 1521-6616

IS - 3

ER -

ID: 19440273