Hyper IgE Syndrome (job syndrome): quick overview
Hyper IgE Syndrome, also known as Job Syndrome, is a rare primary immunodeficiency disorder characterized by increased levels of immunoglobulin E (IgE) and various clinical manifestation. The syndrome is primarily caused by mutations in the STAT3 gene, leading to a compromised immune system. In this article, we will explore the mnemonic “HyPER IgE Syndrome” and delve into the clinical manifestations and genetic basis of this intriguing condition.The mnemonic “HyPER IgE Syndrome” serves as a useful tool to remember the key clinical features associated with Job Syndrome:
Hy – Hyperextensible Joints with Coarse Facial Features and Delayed Shedding of Primary Teeth:
Individuals with Hyper IgE Syndrome often present with hyperextensible joints, giving them increased flexibility in certain joints. They may also exhibit coarse facial features, which can include thick lips and a broad nose bridge. Delayed shedding of primary teeth is a common dental manifestation in affected individuals.
P – Pneumatocele is Common:
The term “pneumatocele” describes the existence of pockets filled with air inside the lung tissue. The lungs are more likely to develop pneumatoceles in people with Job syndrome, which can cause respiratory issues. to developing pneumatoceles, which can lead to respiratory complications.
E – Eosinophilia is Common:
Eosinophilia is the condition of having elevated levels of eosinophils in the blood. Eosinophils are a type of white blood cell involved in immune responses against parasites and certain infections. In Hyper IgE Syndrome, eosinophilia is a frequent finding.
R – Rash Resembles Atopic Dermatitis:
Affected individuals may develop a skin rash resembling atopic dermatitis, a chronic inflammatory skin condition. This rash can cause itching and discomfort.IgE – Increased Level of IgE (>2000):The hallmark of Hyper IgE Syndrome is the markedly elevated levels of immunoglobulin E (IgE) in the blood. A normal IgE level typically ranges from 20 to 100 IU/mL, while individuals with Job Syndrome often have levels exceeding 2000 IU/mL.
Syndrome – Staphylococcal (Abscess) Infection is Common:
One of the major difficulties experienced by people with Hyper IgE Syndrome is their propensity for recurring infections, especially those brought on by the Staphylococcus aureus bacteria. A common side effect of these diseases is the development of an abscess.
Genetics and STAT3 Gene Mutation:Hyper IgE Syndrome is primarily an autosomal dominant disorder, meaning that an affected individual only needs to inherit one mutated copy of the STAT3 gene from either parent to develop the condition. The STAT3 gene provides instructions for producing a protein that plays a crucial role in immune system regulation. Mutations in this gene lead to abnormal functioning of immune cells, including T cells and B cells, which results in the overproduction of IgE and a weakened immune response against infections.
Conclusion:
The rare immunodeficiency illness known as Hyper IgE Syndrome, sometimes known as Job Syndrome, is characterised by a variety of clinical signs and symptoms as well as high blood IgE levels. To help remember the essential features of this illness, the mnemonic “HyPER IgE Syndrome” is beneficial. For an early diagnosis and suitable care of those who suffer from Hyper IgE Syndrome, it is essential to comprehend the clinical manifestations and genetic underpinnings of the condition. To improve the quality of life for those who live with this complex ailment, more study is required into the disease process and potential therapeutic options.