Literature DB >> 9709729

The face of Job.

W G Borges1, T Hensley, J C Carey, B A Petrak, H R Hill.   

Abstract

We evaluated facial features in 9 patients from 7 kindreds with Job syndrome. Consistent features included prominent forehead with deep-set eyes, increased width of the nose, a full lower lip, and thickening of the nose and ears. The mean alar width (Z score = +3.9) and outer canthal distance (Z score = +2.2) were significantly increased. A recognizable face of Job syndrome exists.

Entities:  

Mesh：

Year:  1998        PMID： 9709729     DOI： 10.1016/s0022-3476(98)70243-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  12 in total

1.  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

2.  Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome.

Authors:  N C Patel; J L Gallagher; T R Torgerson; A L Gilman
Journal:  J Clin Immunol       Date:  2015-05-12       Impact factor: 8.317

Review 3.  Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.

Authors:  Kelli W Williams; Joshua D Milner; Alexandra F Freeman
Journal:  Immunol Allergy Clin North Am       Date:  2015-08       Impact factor: 3.479

4.  Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases.

Authors:  Attila Kumánovics; Carl T Wittwer; Robert J Pryor; Nancy H Augustine; Mark F Leppert; John C Carey; Hans D Ochs; Ralph J Wedgwood; Ralph J Faville; Paul G Quie; Harry R Hill
Journal:  J Mol Diagn       Date:  2010-01-21       Impact factor: 5.568

5.  Reduced bone density in patients with autosomal dominant hyper-IgE syndrome.

Authors:  Oded Scheuerman; Vered Hoffer; Avner Herman Cohen; Cristina Woellner; Bodo Grimbacher; Ben-Zion Garty
Journal:  J Clin Immunol       Date:  2013-04-19       Impact factor: 8.317

Review 6.  The hyper-IgE syndromes.

Authors:  Alexandra F Freeman; Steven M Holland
Journal:  Immunol Allergy Clin North Am       Date:  2008-05       Impact factor: 3.479

7.  Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.

Authors:  Ellen D Renner; Stacey Rylaarsdam; Stephanie Anover-Sombke; Anita L Rack; Janine Reichenbach; John C Carey; Qili Zhu; Annette F Jansson; Julia Barboza; Lena F Schimke; Mark F Leppert; Melissa M Getz; Reinhard A Seger; Harry R Hill; Bernd H Belohradsky; Troy R Torgerson; Hans D Ochs
Journal:  J Allergy Clin Immunol       Date:  2008-07       Impact factor: 10.793

Review 8.  The hyper-IgE syndrome.

Authors:  R H Buckley
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 10.817

Review 9.  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 10.  An update on the hyper-IgE syndromes.

Authors:  Patrick F K Yong; Alexandra F Freeman; Karin R Engelhardt; Steven Holland; Jennifer M Puck; Bodo Grimbacher
Journal:  Arthritis Res Ther       Date:  2012-11-30       Impact factor: 5.156
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