Even though the cytokine dysregulation appears to play a role in its pathophysiology, the causative gene hasn’t yet been identified. In 1 study, no special polymorphisms or mutations were found in candidate genes in the toll-like receptor pathway. A significantly high number of immunoglobulin-related genes have been found to be up-regulated in this syndrome. Maybe the different patterns may facilitate understanding of its pathophysiology and, possibly, its identification.
The hyper-IgE syndromes have multiple genetic foundations. They don’t appear to have a propensity to develop food allergies and anaphylaxis. Autosomal recessive mutations inDOCK8 are connected with the autosomal recessive hyper-IgE syndrome in conjunction with severe atopic dermatitis, food allergies, and recurrent pneumonias. Dominant-negative mutations in the STAT3 gene have been linked to the timeless multisystem type of hyper-IgE syndrome. A novel STK4mutation was described in patients with autoimmune cytopenias having features overlapping with those of DOCK-8 lack hyper-IgE syndrome.
Hyper-IgE syndrome may be related to defective salivary activity, which accounts for the enhanced susceptibility of the patients to oral candidiasis.
Job syndrome (HIE syndrome, or hyper-IgE syndrome) occurs in individuals of varied ethnic backgrounds and doesn’t appear to be more prevalent in any particular population.
Many Job syndrome patients that are undergoing routine monitoring and receiving proper treatment will live past age 50 years. The mortality rate is raised due to systemic infections.
The huge majority of patients have severe cutaneous and pulmonary disease, and many patients have multiple bone fractures and scoliosis.
Dermatology focuses on the identification and treatment of conditions associated with skin, nails and hair. Your skin is the body’s largest organ, which covers and protects your entire body. Anything that disturbs, clogs or inflames your skin may cause symptoms like redness, swelling, itching and burning. Common skin conditions include psoriasis, psoriasis, ringworm, impetigo, vitiligo, psoriasis and skin tags.