Navigation überspringen
Universitätsbibliothek Heidelberg
Status: Bibliographieeintrag

Verfügbarkeit
Standort: ---
Exemplare: ---
heiBIB
 Online-Ressource
Verfasst von:Heinold, Andreas [VerfasserIn]   i
 Hanebeck, Benjamin [VerfasserIn]   i
 Daniel, Volker [VerfasserIn]   i
 Heyder, J. [VerfasserIn]   i
 Tran, Thuong Hien [VerfasserIn]   i
 Döhler, Bernd [VerfasserIn]   i
 Greil, Johann [VerfasserIn]   i
 Müller, Frank-Michael [VerfasserIn]   i
Titel:Pitfalls of “hyper”-IgM syndrome
Titelzusatz:a new CD40 ligand mutation in the presence of low IgM levels : a case report and a critical review of the literature
Verf.angabe:A. Heinold, B. Hanebeck, V. Daniel, J. Heyder, T.H. Tran, B. Döhler, J. Greil, F.-M. Müller
E-Jahr:2010
Jahr:28 October 2010
Umfang:6 S.
Illustrationen:Illustrationen
Fussnoten:Gesehen am 11.04.2023
Titel Quelle:Enthalten in: Infection
Ort Quelle:München : Urban & Vogel, 1973
Jahr Quelle:2010
Band/Heft Quelle:38(2010), 6 vom: Okt., Seite 491-496
ISSN Quelle:1439-0973
Abstract:Here, we report on a male infant with low serum IgG, IgA and IgM levels who suffered from Pneumocystis jirovecii and cytomegalovirus (CMV) pneumonia. The patient was tested to be HIV-negative. Absolute and relative numbers of lymphocyte subsets were normal, excluding the diagnosis of an X-linked agammaglobulinaemia (Bruton’s disease). Despite the decreased serum IgM level, an X-linked hyper-IgM syndrome (X-HIGM) was considered. X-HIGM is a rare immunodeficiency usually characterised by recurrent severe opportunistic infections, low serum IgG and IgA, but normal or increased serum IgM. The syndrome is caused by mutations of the CD40 ligand (CD40L) gene. In our patient, CD40L mutation analysis proved a novel mutation at codon 257 associated with non-detectable expression of CD40L on the surface of activated T cells. A literature search revealed that approximately 6.4% of X-HIGM patients had been found to have low serum IgM levels. Our statistical analysis of the IgM levels as reported by different studies arouses suspicion that many patients with low IgM levels may not have undergone diagnostic procedures for X-HIGM. In summary, in this report and critical review of the literature, we described a new mutation of CD40L and highlighted the pitfalls of the diagnosis of X-HIGM.
DOI:doi:10.1007/s15010-010-0061-9
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1007/s15010-010-0061-9
 DOI: https://doi.org/10.1007/s15010-010-0061-9
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:CD40 ligand
 Hyper-IgM
 Immunodeficiency
 Mutation
K10plus-PPN:1842026356
Verknüpfungen:→ Zeitschrift

Permanenter Link auf diesen Titel (bookmarkfähig):  https://katalog.ub.uni-heidelberg.de/titel/69064200   QR-Code
zum Seitenanfang