Human Tyk2 Kinase Deficiency: Another Primary Immunodeficiency Syndrome
نویسندگان
چکیده
منابع مشابه
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...
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Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly. Firstly, she was thought as Fanconi a...
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Although selective IgM deficiency (SIGMD) was described almost five decades ago, it was largely ignored as a primary immunodeficiency. SIGMD is defined as serum IgM levels below two SD of mean with normal serum IgG and IgA. It appears to be more common than originally realized. SIGMD is observed in both children and adults. Patients with SIGMD may be asymptomatic; however, approximately 80% of ...
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Primary non-Hodgkin lymphoma of liver is a very rare malignancy. Here we report a case of primary hepatic Burkitt’s lymphoma in a 34-year old man who was known case of acquired immunodeficiency syndrome (AIDS) and presented with weight loss, abdominal pain, and fever. Positive laboratory findings were mild anemia and elevated levels of lactate dehydrogenase (LDH) and alkaline phosphatase (AL...
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ژورنال
عنوان ژورنال: Immunity
سال: 2006
ISSN: 1074-7613
DOI: 10.1016/j.immuni.2006.10.007