Literature DB >> 3692884

A boy with recurrent infections, impaired PMN-chemotaxis, increased IgE concentrations and cranial synostosis--a variant of the hyper-IgE syndrome?

M Gahr1, W Müller, B Allgeier, C P Speer.   

Abstract

A patient with coarse facies, craniosynostosis, recurrent staphylococcal infections with pneumatocele formation is described. Laboratory features included moderately elevated serum IgE, cutaneous anergy, decreased numbers of T-suppressor cells and variable inhibition of neutrophil chemotaxis. The combination of clinical findings suggests the diagnosis hyper-IgE syndrome, though the total IgE serum concentration (800 U/ml) and the level of IgE-specific antibodies to staphylococci (9.4%, normal less than 5%) were only slightly elevated.

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Year:  1987        PMID: 3692884

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  6 in total

Review 1.  Hyper-IgE syndrome update.

Authors:  Kathryn J Sowerwine; Steven M Holland; Alexandra F Freeman
Journal:  Ann N Y Acad Sci       Date:  2012-01-23       Impact factor: 5.691

2.  Genetic linkage of hyper-IgE syndrome to chromosome 4.

Authors:  B Grimbacher; A A Schäffer; S M Holland; J Davis; J I Gallin; H L Malech; T P Atkinson; B H Belohradsky; R H Buckley; F Cossu; T Español; B Z Garty; N Matamoros; L A Myers; R P Nelson; H D Ochs; E D Renner; N Wellinghausen; J M Puck
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

3.  A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.

Authors:  Tobias Schwerd; Freia Krause; Stephen R F Twigg; Andrew O M Wilkie; Dirk Schmidt-Arras; Holm H Uhlig; Dominik Aschenbrenner; Yin-Huai Chen; Uwe Borgmeyer; Miryam Müller; Santiago Manrique; Neele Schumacher; Steven A Wall; Jonathan Jung; Timo Damm; Claus-Christian Glüer; Jürgen Scheller; Stefan Rose-John; E Yvonne Jones; Arian Laurence
Journal:  Bone Res       Date:  2020-06-11       Impact factor: 13.567

Review 4.  The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency.

Authors:  Aleksandra Szczawinska-Poplonyk; Zdzislawa Kycler; Barbara Pietrucha; Edyta Heropolitanska-Pliszka; Anna Breborowicz; Karolina Gerreth
Journal:  Orphanet J Rare Dis       Date:  2011-11-15       Impact factor: 4.123

5.  A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Authors:  Tobias Schwerd; Stephen R F Twigg; Dominik Aschenbrenner; Santiago Manrique; Kerry A Miller; Indira B Taylor; Melania Capitani; Simon J McGowan; Elizabeth Sweeney; Astrid Weber; Liye Chen; Paul Bowness; Andrew Riordan; Andrew Cant; Alexandra F Freeman; Joshua D Milner; Steven M Holland; Natalie Frede; Miryam Müller; Dirk Schmidt-Arras; Bodo Grimbacher; Steven A Wall; E Yvonne Jones; Andrew O M Wilkie; Holm H Uhlig
Journal:  J Exp Med       Date:  2017-07-26       Impact factor: 14.307

6.  A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.

Authors:  Tobias Schwerd; Freia Krause; Stephen R F Twigg; Andrew O M Wilkie; Dirk Schmidt-Arras; Holm H Uhlig; Dominik Aschenbrenner; Yin-Huai Chen; Uwe Borgmeyer; Miryam Müller; Santiago Manrique; Neele Schumacher; Steven A Wall; Jonathan Jung; Timo Damm; Claus-Christian Glüer; Jürgen Scheller; Stefan Rose-John; E Yvonne Jones; Arian Laurence
Journal:  Bone Res       Date:  2020-06-11       Impact factor: 13.567

  6 in total

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