Job Syndrome

What is Job Syndrome?

This syndrome is a very rare immune deficient disorder with an occurrence of approximately one  in a million. Currently there are only about 250 cases reported in the medical literature. There are probably many more living hidden in the dirt and dust of third world countries.

Job syndrome is categorized by an atypically high level of an immune system protein known as immunoglobulin E or IgE in the blood. IgE generates an immunity reaction against any foreign substance in the human body, such as parasitic worms, and plays a role in allergies. It is not known why individuals with this syndrome have such an extraordinary level of IgE.

Job syndrome can distress any individual female or male of any age group and race but is overwhelming in children between the ages of one to ten and can lead to the slow death of the individual.

Job Syndrome Symptoms

The symptoms and signs listed below have been mention in some of the medical literature:

  • Recurrent suppurative infections
  • Lymphadenitis
  • Pulmonary infections
  • Conjunctivitis
  • Underdeveloped mid-face
  • Coarse facial features
  • Prominent nose
  • Osteoporosis
  • Premature fusion of skull bones
  • Osteogenesis imperfecta
  • Guilt
  • Depression
  • Increased number of eosinophils in blood
  • Mouth fungal infections
  • Chronic eczemoid rash
  • Nail bed fungal infections
  • Nasal discharge
  • Fever
  • Leukocytosis
  • Large skin abscesses
  • Sinus infections that are recurrent
  • Recurrent bronchitis
  • Recurrent pneumonia
  • Reduced bone density
  • Frequent fractures
  • Persistent skin abscesses and infection
  • Recurrent sinus infections
  • Eczema

Symptoms of this condition normally occur close to birth and in early infancy, beginning with a distinctive rash. The infant will be prone to skin as well as lung infections by bacteria and viruses and the development of neurological symptoms. This syndrome also weakens bones, making them prone to fracture and can cause dental problems. Individuals might not lose their primary teeth when their adult teeth come in. Job syndrome is linked with joints hypermobility as well as scoliosis of the spine.

Job Syndrome Causes

The cause of Job syndrome is owed to the mutations or alterations in the STAT3 gene. This is the gene that delivers instruction for creating a protein that plays a vital role in numerous body systems. This protein is intricate in numerous cellular functions, as well as cell division and growth, movement of cells as well as cells self-destruction. To carry out these functions, the STAT3 protein fastens to DNA and aids in guiding the activity of precise genes.

Very little is known about how the STAT3 mutations affect the cells and tissues of the body. Deviations in this gene alter the meaning and assembly of the STAT3 protein, harming its capability to control the action of other genes. This defective protein interrupts cellular functioning such as the regulations of the immune system. The resulting immune system anomalies make individuals with Job syndrome extremely susceptible to infections. This protein is involved also in the creation of cells that break down bone tissue, which helps clarify why STAT3 alterations cause the dental and skeletal anomalies distinctive of this syndrome.


When Job syndrome is not instigated by STAT3 modifications, the genetic cause of the syndrome is unknown.

Job Syndrome Diagnosis

If a physician suspects that a child or older individual might have this syndrome, there are several diagnostic tests that can be run in order to look for key signs. Because this condition is rare, a physician might miss it in the beginning unless she/he has had any experience with patients who have this syndrome. After the diagnosis of Job syndrome is made, the child’s parents might find it to be of help to discuss this condition with a counselor or specialist in genetics to learn as much as possible about the essentials of their child’s case. Normally patients with this syndrome need treatment or management from physicians in a number of different specialties and may also require some adjustments in order to reduce any risks of infections as well as fractures linked with this condition.

Physicians will often do an eye exam in order to look for any signs of the syndrome known as dry eye. Thru the physician exam, physicians will also be looking for osteomyelitis – acute or chronic bone infection, recurrent infections of the sinus and curvature of the spine. Abscesses of the lungs can be found using x-ray of the chest. Other diagnostic tests may include:

  • Serum globulin electrophoresis – shows levels of IgE in the blood
  • Absolute eosinophil count
  • CT scan
  • X-ray of the sinuses
  • Total blood count with blood cell differential
  • Cultures of the infected site
  • Blood tests which allow the physician to explore elements of the immune system

Job Syndrome Treatment

The goal of treatment for this genetic disorder is to manage the recurrent infections that often occur. Antibiotic drugs are the most commonly used. Anti-viral drugs and anti-fungal medications may also be advantageous in many cases. Abscesses often will require surgery in order to be drained. Gamma globulin given intravenously may be used to help to temperately strengthen the immunity system during infections that are quite severe.

Individuals with eczema might benefit from lotions and creams that are able to moisturize the skin. They might also benefit from eluding anything that is identified to irritate their skin. Patients who suffer with bone fractures will be treated as needed with splinting, casting and medication for inflammation and pain. Those who have problems with teeth defects might need extra dental care.


The bulk of patients with Job syndrome have severe pulmonary and cutaneous infections and most individuals have numerous bone fractures as well as scoliosis. The mortality rate is high due to systemic infections.

Leave a Reply

© 2010-2016 All Rights Reserved. Privacy Policy
The information provided on this web site is just for educational purposes only and is not to be used as a substitute for medical advice, diagnosis or treatment.