Job Syndrome

Excerpt

Hyper-IgE syndrome (HIES) is a rare, primary immunodeficiency distinguished by the clinical triad of atopic dermatitis, recurrent skin staphylococcal infections, and recurrent pulmonary infections. Furthermore, there are elevated IgE levels of early-onset in primary childhood.

David et al. first described reported "Job syndrome" in 1966 in two patients with eczema, recurrent pulmonary infections, and cold lung abscesses. Later, in 1972, Buckley et al. reported the association of this condition with increased serum immunoglobulin E (hyper-IgE) levels and a series of phenotypic features called HIES.

The HIES is classified into 2 types.

1. Type I: Autosomal dominant hyper-IgE syndrome (AD-HIES), in which patients have abnormalities in different systems, including the immune system, connective tissue, skeletal and vascular among others

2. Type II: Autosomal recessive hyper-IgE syndrome (AR-HIES), which also affects the immune system, manifesting in high IgE, recurrent skin and lung infections, sensitivity to viral infections such as molluscum contagiosum, and central nervous system (CNS) involvement, but does not have musculoskeletal alterations

Most recently, the International Union of Immunology Societies describes primary immunodeficiencies (PID) with well-defined syndromes as AD-HIES (Job syndrome) and 3 subtypes of AR-HIES that do not present skeletal or pneumatoceles alterations. These are further subdivided into TYK2 deficiency, DOCK8 deficiency, according to a molecular abnormality, and one of unknown origin.