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The mystery of Job syndrome: Why this rare immune deficiency is so hard to ignore?
In the medical world, Job syndrome (also known as Buckley syndrome) is a rare immunodeficiency disease. According to current literature records, there are approximately 300 cases of this disease, which seriously affects the quality of life of patients, and the specific cause is still not fully understood. This article will explore in depth the characteristics, pathophysiology, diagnostic methods, treatment options, and historical background of this syndrome.
Symptoms
Job syndrome is characterized by recurrent "cold" Staphylococcus aureus infections due to impaired neutrophil recruitment. In addition, patients often have an unusual eczematous rash, severe lung infection that can lead to emphysematous cysts (which may be filled with air, pus, or scar tissue), and very high serum levels of the antibody IgE (> 2000 IU/mL or 4800 mcg/L).
“The symptoms of this disease, including unique facial and dental abnormalities, make life challenging for those who suffer from it.”
Pathophysiology
The pathogenesis of Job syndrome is mainly related to abnormal neutrophil chemotaxis, which is caused by a decrease in interferon gamma (IFN-γ) in T lymphocytes. The disease can be inherited in two ways: autosomal dominant and autosomal recessive. Defects in the autosomal dominant form of the STAT3 gene result in typical facial, dental, and skeletal abnormalities. A common mnemonic is FATED: rough or leonine facies, cold staphylococcal abscesses, retained deciduous teeth, elevated IgE levels, and skin problems (such as eczema).
“For many patients, facial features are often apparent by age 16 and include facial asymmetry, a prominent forehead and deep-set eyes.”
Diagnostic Methods
IgE levels above 2000 IU/mL are generally considered diagnostic of HIES. However, children younger than 6 months may have very low or even undetectable IgE levels. Eosinophilia is present in more than 90% of patients, making it a common diagnostic feature. In addition, genetic testing is also very important to determine genetic defects in STAT3 (Job syndrome), DOCK8 (DOCK8 immunodeficiency), PGM3 (PGM3 deficiency), SPINK5 (Netherton syndrome), and TYK2.
Treatment options
For most patients with hyper-IgE syndrome, long-term antibiotic therapy is the mainstay of treatment to prevent S. aureus infection. In addition, good skin care is also essential. High-dose intravenous immunoglobulin has also been proposed for the treatment of severe eczema and atopic dermatitis in patients with HIES.
Historical Background Job syndrome was first described in 1966 by Davis et al., who found chronic dermatitis and recurrent staphylococcal abscesses and pneumonia in two girls with red hair. Researchers named the disease Job because the biblical character Job's body was covered with ulcers. In 1972, Buckley et al described two boys with symptoms similar to Job syndrome with coarse facies, eosinophilia, and elevated serum IgE levels. These two syndromes are considered to be different manifestations of the same disease and both fall under the umbrella of HIES.Job syndrome is a rare immunodeficiency disease that brings great challenges to the lives of patients and their families. As medicine advances, will we be able to diagnose and treat this disease more effectively, thereby improving the quality of life of patients?
