PEDBASE.org - The Pediatric Database - Detailed information of JOB SYNDROME

JOB SYNDROME

DEFINTION:

A disorder of neutrophil oxidative metabolism characterized by extremely high serum IgE levels, chronic eczema, and recurrent skin and sinopulmonary tract infections.

EPIDEMIOLOGY:

incidence: rare
age of onset:
- first 8 weeks of life
risk factors:
- familial - ?
  - chrom.#: ?
  - gene: ?

PATHOGENESIS:

1. Genetic Defect

genetic defect -> deficiency of suppressor T cells -> overactive T helper cells stimulate IgE production -> excessive production of nonprotective IgE with concurrent inadequate synthesis of protective IgG -> recurrent infections and abscesses - most common organisms isolated from lesions and abscesses:
- major - S. aureus, C. albicans
- minor - H. flu, S. pneumoniae, enteric gram - bacteria, herpesvirus
decreased chemotaxis may be due to the secretion of chemotactic inhibitor substances from mononuclear cells

CLINICAL FEATURES:

1. Recurrent Infections

sinopulmonary - pneumonia, chronic cough
skin - abscesses in skin and deep-seated in subcutaneous tissue
- chronic eczema
others - osteomyelitis
- visceral abscesses

2. Other Manifestations

allergic rhinitis
arthritis
asthma
coarse facial features
keratoconjunctivitis
stunted growth

INVESTIGATIONS:

1. CBC

5,000-15,000 WBC's (20-30% eosinophils)
extreme elevation of IgE
- IgE specificity to S. aureus and C. albicans
- immune complexes containing IgE found

2. Neutrophil Function

chemotaxis -decreased in neutrophils & monocytes in some patients
superoxide release - normal
bacterial killing - normal

3. Imaging Studies

1. MRI/CT/Bone Scans

for abscess detection

4. Others

absent delayed hypersensitivity on skin tests to recall antigens in vivo

MANAGEMENT:

1. Supportive

management of infections with antibiotics, antiviral agents, and antifungal agents
may be a role for IV gamma globulin prophylaxis
drain abscesses

Pediatric Database - JOB SYNDROME

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