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Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)

Type 1 hyper IgE syndrome (HIES), also known as Job's Syndrome, is an autosomal dominant disorder due to defects in STAT3 signaling and Th17 differentiation. Symptoms may present during infancy but diagnosis is often made in childhood or later. HIES is characterized by immunologic and non-immun...

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Autores principales: Robinson, Wilson S, Arnold, Sandra R, Michael, Christie F, Vickery, John D, Schoumacher, Robert A, Pivnick, Eniko K, Ward, Jewell C, Nagabhushanam, Vijaya, Lew, Dukhee B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3248830/
https://www.ncbi.nlm.nih.gov/pubmed/22126402
http://dx.doi.org/10.1186/1476-7961-9-14
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author Robinson, Wilson S
Arnold, Sandra R
Michael, Christie F
Vickery, John D
Schoumacher, Robert A
Pivnick, Eniko K
Ward, Jewell C
Nagabhushanam, Vijaya
Lew, Dukhee B
author_facet Robinson, Wilson S
Arnold, Sandra R
Michael, Christie F
Vickery, John D
Schoumacher, Robert A
Pivnick, Eniko K
Ward, Jewell C
Nagabhushanam, Vijaya
Lew, Dukhee B
author_sort Robinson, Wilson S
collection PubMed
description Type 1 hyper IgE syndrome (HIES), also known as Job's Syndrome, is an autosomal dominant disorder due to defects in STAT3 signaling and Th17 differentiation. Symptoms may present during infancy but diagnosis is often made in childhood or later. HIES is characterized by immunologic and non-immunologic findings such as recurrent sinopulmonary infections, recurrent skin infections, multiple fractures, atopic dermatitis and characteristic facies. These manifestations are accompanied by elevated IgE levels and reduced IL-17 producing CD3+CD4+ T cells. Diagnosis in young children can be challenging as symptoms accumulate over time along with confounding clinical dilemmas. A NIH clinical HIES scoring system was developed in 1999, and a more recent scoring system with fewer but more pathogonomonic clinical findings was reported in 2010. These scoring systems can be used as tools to help in grading the likelihood of HIES diagnosis. We report a young child ultimately presenting with disseminated histoplasmosis and a novel STAT3 variant in the SH2 domain.
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spelling pubmed-32488302011-12-31 Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES) Robinson, Wilson S Arnold, Sandra R Michael, Christie F Vickery, John D Schoumacher, Robert A Pivnick, Eniko K Ward, Jewell C Nagabhushanam, Vijaya Lew, Dukhee B Clin Mol Allergy Review Type 1 hyper IgE syndrome (HIES), also known as Job's Syndrome, is an autosomal dominant disorder due to defects in STAT3 signaling and Th17 differentiation. Symptoms may present during infancy but diagnosis is often made in childhood or later. HIES is characterized by immunologic and non-immunologic findings such as recurrent sinopulmonary infections, recurrent skin infections, multiple fractures, atopic dermatitis and characteristic facies. These manifestations are accompanied by elevated IgE levels and reduced IL-17 producing CD3+CD4+ T cells. Diagnosis in young children can be challenging as symptoms accumulate over time along with confounding clinical dilemmas. A NIH clinical HIES scoring system was developed in 1999, and a more recent scoring system with fewer but more pathogonomonic clinical findings was reported in 2010. These scoring systems can be used as tools to help in grading the likelihood of HIES diagnosis. We report a young child ultimately presenting with disseminated histoplasmosis and a novel STAT3 variant in the SH2 domain. BioMed Central 2011-11-29 /pmc/articles/PMC3248830/ /pubmed/22126402 http://dx.doi.org/10.1186/1476-7961-9-14 Text en Copyright ©2011 Robinson et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Robinson, Wilson S
Arnold, Sandra R
Michael, Christie F
Vickery, John D
Schoumacher, Robert A
Pivnick, Eniko K
Ward, Jewell C
Nagabhushanam, Vijaya
Lew, Dukhee B
Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)
title Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)
title_full Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)
title_fullStr Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)
title_full_unstemmed Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)
title_short Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)
title_sort case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (hies)
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3248830/
https://www.ncbi.nlm.nih.gov/pubmed/22126402
http://dx.doi.org/10.1186/1476-7961-9-14
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