Leucocytes in Job's Syndrome

White, LonR.; Iannetta, Antoinette; Kaplan, EdwardL.; Davis, StarkeyD.; Wedgwood, RalphJ.

doi:10.1016/s0140-6736(69)91577-3

Cited by 19 publications

(7 citation statements)

References 11 publications

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“…It was initially disputed that Job's syndrome was a variant of chronic granulomatous disease (CGD), as both disorders presented with abscesses and had a neutrophil function defect. However, unlike CGD, the nitrazolium blue test was found to be normal in Job's syndrome ( 4). Following this discovery, elevated levels of IgE and a defect of neutrophil chemotaxis were identified in the two Job's‐syndrome girls ( 5).…”

Section: Job's Syndromementioning

confidence: 86%

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Hyperimmunoglobulin‐E syndrome with recurrent infection: A review of current opinion and treatment

Erlewyn-Lajeunesse

2000

Pediatric Allergy Immunology

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Hyperimmunoglobulin E (hyper-IgE) syndrome with recurrent infection is a rare idiopathic primary immunodeficiency. It consists of a severe dermatitis with recurrent abscess formation, respiratory tract infections and very high titres of serum immunoglobulin E (IgE). Hyper-IgE syndrome is also associated with skeletal abnormalities. Variability of presentation makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiencies. The aim of this article is to review the literature in order to consider the clinical findings, etiology and treatment of this syndrome.

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Section: Job's Syndromementioning

confidence: 86%

“…The defect of neutrophil chemotaxis has been demonstrated by various assays, in response to endotoxin‐activated serum, C5a, sodium caseinate and fmet‐leu‐phe. Other assays of neutrophil function, including oxidative burst assay using the nitroblue tetrazolium (NBT) test are normal ( 4).…”

Section: Aetiologymentioning

confidence: 99%

Hyperimmunoglobulin‐E syndrome with recurrent infection: A review of current opinion and treatment

Erlewyn-Lajeunesse

2000

Pediatric Allergy Immunology

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“…Good and coworkers discovered that X-linked chronic granulomatous disease (CGD) was caused by an inborn error of phagocytic cells resulting in a failure to destroy the bacteria taken up by phagocytosis [16]. At the time, some argued that Job’s syndrome was a variant of CGD [17], but this view was overturned in 1969, when Wedgwood demonstrated normal nitroblue tetrazolium (NBT) reduction, indicating that superoxide anion production in phagocytes was normal after phagocytosis in the leukocytes of patients with Job’s syndrome, at odds with the characteristic features of CGD [18]. Job’s syndrome was subsequently recognized as a distinct condition, different from CGD.…”

Section: The History Of Ige and Hies In Human Diseasesmentioning

confidence: 99%

Human hyper-IgE syndrome: singular or plural?

et al. 2018

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Spectacular progress has been made in the characterization of human hyper-IgE syndrome (HIES) over the last 50 years. HIES is a primary immunodeficiency defined as an association of atopy in a context of very high serum IgE levels, characteristic bacterial and fungal diseases, low-level clinical and biological inflammation, and various non-hematopoietic developmental manifestations. Somewhat arbitrarily, three disorders were successively put forward as the underlying cause of HIES: autosomal dominant (AD) STAT3 deficiency, the only disorder corresponding to the original definition of HIES, and autosomal recessive (AR) DOCK8 and PGM3 deficiencies, in which atopy and high serum IgE levels occur in a context of manifestations not seen in patients with typical HIES. Indeed, these three disorders disrupt different molecular pathways, affect different cell types, and underlie different clinical phenotypes. Surprisingly, several other inherited inborn errors of immunity in which serum IgE levels are high, sometimes almost as high as those in HIES patients, are not considered to belong to the HIES group of diseases. Studies of HIES have been further complicated by the lack of a high serum IgE phenotype in all mouse models of the disease other than two Stat3 mutant strains. The study of infections in mutant mice has helped elucidate only some forms of HIES and infection. Mouse models of these conditions have also been used to study non-hematopoietic phenotypes for STAT3 deficiency, tissue-specific immunity for DOCK8 deficiency, and cell lineage maturation for PGM3 deficiency. We review here the history of the field of HIES since the first clinical description of this condition in 1966, together with the three disorders commonly referred to as HIES, focusing, in particular, on their mouse models. We propose the restriction of the term "HIES" to patients with an AD STAT3-deficiency phenotype, including the most recently described AR ZNF341 deficiency, thus excluding AR DOCK8 and PGM3 deficiencies from the definition of this disease.

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“…The impaired neutrophil chemotaxis has been assayed in response to endotoxin-activated serum, C5a, sodium caseinate, and fMet-Leu-phe,[30] but oxidative burst assay using nitroblue tetrazolium test was normal. [24] As IFN-γ has a critical role in inflammatory reactions as a major activator of neutrophil, the defect of IFN-γ may be responsible for impaired chemotaxis of neutrophil that is important in the pathogenesis of at least recurrent abscesses and undue susceptibility to bacterial and fungal infections seen in this syndrome.…”

Section: Pathogenesismentioning

confidence: 99%

Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

et al. 2017

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The hyperimmunoglobulin E syndromes (HIESs) are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE), recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. A fundamental immunologic defect in HIES is not clearly elucidated but abnormal neutrophil chemotaxis due to decreased production or secretion of interferon γ has main role in the immunopathogenesis of syndrome, also distorted Th1/Th2 cytokine profile toward a Th2 bias contributes to the impaired cellular immunity and a specific pattern of infection susceptibility as well as atopic-allergic constitution of syndrome. The ophthalmic manifestations of this disorder include conjunctivitis, keratitis, spontaneous corneal perforation, recurrent giant chalazia, extensive xanthelasma, tumors of the eyelid, strabismus, and bilateral keratoconus. The diagnosis of HIES is inconclusive, dependent on the evolution of a constellation of complex multisystemic symptoms and signs which develop over the years. Until time, no treatment modality is curative for basic defect in HIES, in terms of cytokines/chemokines derangement. Of note, bone marrow transplant and a monoclonal anti-IgE (omalizumab) are hoped to be successful treatment in future.

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Leucocytes in Job's Syndrome

Cited by 19 publications

References 11 publications

Hyperimmunoglobulin‐E syndrome with recurrent infection: A review of current opinion and treatment

Hyperimmunoglobulin‐E syndrome with recurrent infection: A review of current opinion and treatment

Human hyper-IgE syndrome: singular or plural?

Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

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