Literature DB >> 10592927

[Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers].

P Schweizer1, H Kalhoff, G Horneff, V Wahn, L Diekmann.   

Abstract

We report a now three year old male patient with ectodermal dysplasia and a polysaccharide specific humoral immunodeficiency. Immunological investigations showed compromised production of IgA, IgM, and IgG2. Isohaemagglutinins still were not detectable at the age of three years. Repeated vaccination with polyvalent pneumococcal polysaccharide vaccine did not result in production of specific antibodies. Two brothers showed clinical signs of ectodermal dysplasia. The elder brother died from pneumococcal sepsis at the age of 3 years. The younger brother suffers from chronic inflammatory gastrointestinal disease with ulcerations in all parts of the gastrointestinal system. Thus, a possible association between polysaccharide specific humoral immunodeficiency and ectodermal dysplasia may be considered.

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Year:  1999        PMID: 10592927     DOI: 10.1055/s-2008-1043834

Source DB:  PubMed          Journal:  Klin Padiatr        ISSN: 0300-8630            Impact factor:   1.349


  3 in total

1.  Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels.

Authors:  Gital Karamchandani-Patel; Eric P Hanson; Rushani Saltzman; C Eve Kimball; Ricardo U Sorensen; Jordan S Orange
Journal:  Ann Allergy Asthma Immunol       Date:  2011-05-04       Impact factor: 6.347

2.  A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

Authors:  J Zonana; M E Elder; L C Schneider; S J Orlow; C Moss; M Golabi; S K Shapira; P A Farndon; D W Wara; S A Emmal; B M Ferguson
Journal:  Am J Hum Genet       Date:  2000-10-24       Impact factor: 11.025

Review 3.  X-linked immunodeficiencies.

Authors:  Hans D Ochs; Luigi D Notarangelo
Journal:  Curr Allergy Asthma Rep       Date:  2004-09       Impact factor: 4.806

  3 in total

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