Journal Article

STAT3 Mutations in the Hyper-IgE Syndrome

DeLeo, Frank R, Schäffer, Alejandro A, Demidowich, Andrew, Frucht, David M, Kuhns, Douglas B, Gallin, John I, Holland, Steven M, Whitney, Adeline R, Freeman, Alexandra F, Brodsky, Nina, Turner, Maria L, Woellner, Cristina, Uzel, Gulbu, Welch, Pamela A, Elloumi, Houda Z, Malech, Harry L, Grimbacher, Bodo, Puck, Jennifer M, Musser, James M, Kobayashi, Scott D, Davis, Joie, Darnell, Dirk N, Hsu, Amy P, Anderson, Victoria L, Voyich, Jovanka M

2007

Overview

Identifying the gene that underlies the hyper-IgE immune syndrome — also known as Job's syndrome — has been a challenge. Affected persons typically have extremely high levels of IgE and are susceptible to cold staphylococcal abscesses, pneumonia, and eczema. The cause of this disease is now established: mutations in STAT3. Identifying the gene that underlies the hyper-IgE immune syndrome has been a challenge. The cause of this disease is now established: mutations in STAT3 . The syndrome described as Job's syndrome by Davis et al. in 1966 1 and as hyperimmunoglobulinemia E by Buckley et al. in 1972 2 was originally characterized by recurrent cold staphylococcal abscesses, pneumonia, eczema, hyperextensibility, and extreme elevation of IgE levels. Since then, additional features of the hyper-IgE syndrome have been recognized, including scoliosis, pathologic fractures, pneumatoceles, delayed dental deciduation, 3 , 4 coronary-artery aneurysms, 5 brain lesions, and Chiari's malformations. 6 Pneumonia in patients with the hyper-IgE syndrome is typically caused by infections with Staphylococcus aureus , Haemophilus influenzae , or Streptococcus pneumoniae and leads to pneumatoceles, 3 providing portals for fatal infections with bacteria and . . .

• Publisher: Massachusetts Medical Society
• Subject: Adult / Aged / Aged, 80 and over / Biological and medical sciences / Cytokines / Cytokines - blood / Female / Gene expression / Gene Expression Profiling / General aspects / Humans / Immunodeficiencies / Immunodeficiencies. Immunoglobulinopathies / Immunopathology / Interleukin-6 - physiology / Job Syndrome - genetics / Leukocytes / Leukocytes - immunology / Male / Medical sciences / Mutation, Missense / Oligonucleotide Array Sequence Analysis / Pedigree / Sequence Analysis, DNA / Sequence Deletion / Software / STAT3 Transcription Factor - genetics / Streptococcus infections