Literature DB >> 6981344

Osteogenesis imperfecta tarda in a child with hyper-IgE syndrome.

E P Brestel, W G Klingberg, R W Veltri, J S Dorn.   

Abstract

A patient had recurrent pyogenic infections, chronic mucocutaneous candidiasis, and repeated long-bone fractures. Her disorder was diagnosed as hyper-IgE syndrome on the basis of clinical data, elevated levels of serum IgE, increased levels of IgE specific for Staphylococcus aureus, and impaired T-lymphocyte function. Roentgenograms confirmed the diagnosis of osteogenesis imperfecta tarda. The estimated likelihood of both conditions occurring in the same person is approximately one in 10 billion. The coincident finding of bone dysplasia in a patient with impaired T-lymphocyte function suggests a common mechanism for birth defects.

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Year:  1982        PMID: 6981344     DOI: 10.1001/archpedi.1982.03970450016003

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  4 in total

1.  Craniosynostosis in hyper-IgE-syndrome.

Authors:  P H Höger; E Boltshauser; W H Hitzig
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183

Review 2.  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

Review 3.  Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities.

Authors:  Hassan Hashemi; Masoumeh Mohebbi; Shiva Mehravaran; Mehdi Mazloumi; Hamidreza Jahanbani-Ardakani; Seyed-Hossein Abtahi
Journal:  J Res Med Sci       Date:  2017-04-26       Impact factor: 1.852

4.  Stat3 loss in mesenchymal progenitors causes Job syndrome-like skeletal defects by reducing Wnt/β-catenin signaling.

Authors:  Prem Swaroop Yadav; Shuhao Feng; Qian Cong; Hanjun Kim; Yuchen Liu; Yingzi Yang
Journal:  Proc Natl Acad Sci U S A       Date:  2021-06-29       Impact factor: 11.205

  4 in total

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