Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous...

معرفی یک مورد سندرم ازدیاد Hyper-IgE Syndrome) IgE)

Hyper IgE syndrome (Job’s syndrome) is a primary immunodeficiency disease with recurrent infections especially staphylococcal, coarse face, skeletal abnormality and significant increase in serum IgE level (IgE >2000IU/ml). We present a 16 years old boy admitted with chronic cough, dyspnea, eczema and pneumatocele. He had a history of chronic dermal infection since 1 month after birth. The dia...

Clinical Manifestations of Hyper IgE Syndromes

Over the last 4 years, three genetic etiologies of hyper IgE syndromes have been identified: STAT3, DOCK8, and Tyk2. All of these hyper IgE syndromes are characterized by eczema, sinopulmonary infections, and greatly elevated serum IgE. However, each has distinct clinical manifestations. Mutations in STAT3 cause autosomal dominant HIES (Job's syndrome), which is unique in its diversity of conne...

Establishing the role of tyrosine kinase 2 in cancer

Tyrosine kinase 2 (TYK2) is a member of the Janus family of non-receptor tyrosine kinases involved in cytokine signaling. TYK2 deficiency is associated with increased susceptibility to mycobacterial and viral infections, hyper IgE syndrome as well as with allergic asthma. However the precise role of TYK2 in oncogenesis and tumor progression is not clear yet. Tyk2-deficient mice are prone to dev...

Hyper-IgE syndrome