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hyperimmunoglobulin E (Job's syndrome)

Epidemiology: rare Pathology: 1) associated with primary immunodeficiency 2) phagocyte dysfunction -> reduced chemotaxis (some patients) 3) reduced suppressor T-cell activity - skewed T helper 1 (Th1) cell/Th2 cell ratio 4) involvement of chemokines Genetics: - most cases are sporadic - autosomal dominant & autosomal recessive forms - associated with defects in STAT3 Clinical manifestations: 1) chronic eczematoid or pruritic dermatitis 2) recurrent staphylococcal abscesses 3) sporadic & autosomal dominant - generally part of a multisystem disorder including - abnormalities of soft tissue, skeleton, & dentition - recurrent pneumonias with Staphylococcus aureus - bronchopleural fistulas - cyst formation - bronchiectasis - pneumatoceles - scoliosis 4) autosomal recessive - severe molluscum contagiosum & other viral infections - may develop severe neurological complications - lack skeletal or dental involvement - do not develop lung cysts 5) other variants - restrictive lung disease - sinusitis - mucocutaneous candidiasis - atopy - coarse facies Laboratory: 1) high serum levels of IgE & IgD a) serum IgE > 2000 IU/mL b) high serum anti S. aureus IgE 2) normal serum levels of IgA, IgG & IgM -> low or absent serum & salivary anti S. aureus IgA 3) sputum a) gram stain & culture 1] Staphylococcus aureus 2] Streptococcus pneumoniae 3] gram negative bacilli b) fungal stains & culture 1] Candida albicans 2] Aspergillus species 4) complete blood count -> mild eosinophilia Differential diagnosis: - allergic pulmonary aspergillosis - asthma, eosinophilia, elevated serum IgE, bronchiectasis - hyper IgE recurrent infection syndrome autosomal recessive Management: - prevention & management of infections - sustained systemic antibiotics & antifungals - topical therapy for eczema - drainage of abscesses - anti-staphylococcal antibiotic prophylaxis may be useful - interferons, immunoglobulin supplementation, & low-dose cyclosporine A of suggested benefit in selected patients, but generally not indicated

Related

IgE in serum immunoglobulin-E (IgE)

General

mixed cellular & humoral immune dysfunction phagocytic disorder syndrome

References

  1. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 747
  2. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 356
  3. Grimbacher B, Holland SM, Puck JM. Hyper-IgE syndromes. Immunol Rev. 2005 Feb;203:244-50. Review. PMID: 15661034