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

Wilson S. Robinson, Sandra Arnold, Christie Michael, John D. Vickery, Robert Schoumacher, Eniko K. Pivnick, Jewell C. Ward, Vijaya Nagabhushanam, Dukhee B. Lew

Research output: Contribution to journalReview article

8 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Article number14
JournalClinical and Molecular Allergy
Volume9
DOIs
StatePublished - Nov 29 2011

Fingerprint

Histoplasmosis
Job Syndrome
Immunoglobulins
src Homology Domains
Interleukin-17
Atopic Dermatitis
Infection
Immunoglobulin E
T-Lymphocytes
Skin

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology
  • Molecular Biology

Cite this

Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES). / Robinson, Wilson S.; Arnold, Sandra; Michael, Christie; Vickery, John D.; Schoumacher, Robert; Pivnick, Eniko K.; Ward, Jewell C.; Nagabhushanam, Vijaya; Lew, Dukhee B.

In: Clinical and Molecular Allergy, Vol. 9, 14, 29.11.2011.

Research output: Contribution to journalReview article

Robinson, Wilson S. ; Arnold, Sandra ; Michael, Christie ; Vickery, John D. ; Schoumacher, Robert ; 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). In: Clinical and Molecular Allergy. 2011 ; Vol. 9.
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AU - Schoumacher, Robert

AU - Pivnick, Eniko K.

AU - Ward, Jewell C.

AU - Nagabhushanam, Vijaya

AU - Lew, Dukhee B.

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