Job's Syndrome

Davis, StarkeyD.; Schaller, Jane G.; Wedgwood, RalphJ.; Harvard, M.D.

doi:10.1016/s0140-6736(66)90119-x

Cited by 537 publications

(140 citation statements)

References 7 publications

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“…Autosomal dominant hyper-IgE syndrome (AD-HIES), initially termed Job's syndrome (Davis et al 1966), is caused by heterozygous missense mutations or in-frame deletions in the DNA or SH2-binding domains of the transcription factor STAT3 Minegishi et al 2007). A few sporadic cases caused by de novo mutations have also been described.…”

Section: Stat3 Mutationsmentioning

confidence: 99%

Mendelian Genetics of Human Susceptibility to Fungal Infection

Lionakis

Netea

Holland

2014

Cold Spring Harbor Perspectives in Medicine

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Correspondence: lionakism@niaid.nih.gov A recent surge in newly described inborn errors of immune function-related genes that result in susceptibility to fungal disease has greatly enhanced our understanding of the cellular and molecular basis of antifungal immune responses. Characterization of single-gene defects that predispose to various combinations of superficial and deep-seated infections caused by yeasts, molds, and dimorphic fungi has unmasked the critical role of novel molecules and signaling pathways in mucosal and systemic antifungal host defense. These experiments of nature offer a unique opportunity for developing new knowledge in immunological research and form the foundation for devising immune-based therapeutic approaches for patients infected with fungal pathogens.

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Section: Stat3 Mutationsmentioning

confidence: 99%

Mendelian Genetics of Human Susceptibility to Fungal Infection

Lionakis

Netea

Holland

2014

Cold Spring Harbor Perspectives in Medicine

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“…She also had the lowest value of anti-pneumococcal polysaccharide IgA and among the lowest values for anti-S. aureus IgA in both serum and saliva (see below) and the lowest value of total IgA (54 mg/dl; normal range, 65-415 ng/ dl). Thus, she may have a more generalized inability to mount 30 S. C. Dreskin, P. K. Goldsmith, and J. I. Gallin o, other patients with history of recent (within 2 yr) infections; A, normal control subjects (NL) and patients with no history of recent S. aureus infections. The geometric mean and relative SE are shown for each group.…”

Section: Total Igsmentioning

confidence: 99%

Immunoglobulins in the hyperimmunoglobulin E and recurrent infection (Job's) syndrome. Deficiency of anti-Staphylococcus aureus immunoglobulin A.

Dreskin¹,

Goldsmith²,

Gallin³

1985

J. Clin. Invest.

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Patients with the hyperimmunoglobulin E and recurrent infection syndrome (HIE) characteristically have frequent skin and respiratory infections caused by Staphylococcus aureus. We have developed a set of enzyme-linked immunosorbent assays that use whole S. aureus (Wood's strain) immobilized on 0.22-um filters and highly specific, affinity-purified enzyme conjugates of goat anti-human IgE, anti-human IgD, anti-human IgG, anti-human IgA, and anti-human IgM. These reagents were used to determine S. aureus-specific immunoglobulin (Ig) levels. As previously published, 10 patients with HIE had markedly higher levels of anti-S. aureus IgE than did 5 patients with eczema and recurrent superficial S. aureus infections (P < 0.001). The HIE patients were also found to have a deficit of anti-S. aureus serum IgA as compared with 12 normal subjects, 12 patients with chronic granulomatous disease, 5 patients with chronic eczema and recurrent superficial S. aureus infections, and 3 patients with the Chediak-Higashi syndrome (P < 0.01 for each comparison). In addition, the HIE patients had an excess of anti-S. aureus IgM as compared with normal subjects (P < 0.01). An expected excess of anti-S. aureus IgG was absent. These abnormalities cannot be explained by variations of total serum Ig levels or by a general inability to produce antigen-specific IgA because levels of naturally occurring IgA antibody against Escherichia coli lipopolysaccharide and the antigens of the pneumococcal vaccine are normal. Parotid saliva from patients with HIE contained less salivary IgA per milligram of protein (P < 0.01) and less salivary anti-S. aureus IgA per milligram of protein (P < 0.05) than did normal controls. The incidence of infection at mucosal surfaces and adjacent lymph nodes correlated inversely with serum anti-S. aureus IgA (r = -0.647, P = 0.034), serum anti-S. aureus IgE (r = -0.731, P = 0.016), total serum IgE (r = -0.714, P = 0.020), and total serum IgD (r = -0.597, P = 0.049). These findings are evidence of a previously undescribed immunoregulatory defect in patients with HIE, which may contribute to the increased susceptibility to infection in this syndrome.

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“…Hyperimmunoglobulin-E syndrome (HIES) is a syndrome of recurrent staphylococcal abscesses, sinopulmonary infections, severe eczema and elevated levels of serum IgE [1,2] . Herein, we describe a patient with HIES and right-sided endocarditis due to Staphylococcus aureus.…”

Section: Introductionmentioning

confidence: 99%