Artemis deficiency is included in the most severe phenotype, T-B- SCID and it is inherited as an autosomal recessive trait. The disease is characterized by a profound deficiency of both T cell and B cell immunity. It is caused by a mutation of Artemis gene which codes for a novel V(D)J ...
The zeta chain-associated protein kinase of 70 kD, ZAP-70, is involved in T cell receptor signaling and is critical for T cell differentiation and function. Deficiency of ZAP-70 causes a combined immunodeficiency. Affected children present within the first two years of life with a history of ...
Reticular dysgenesis is the most severe form of inborn SCID. It is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune ...
A common complication in allogenic bone marrow transplants and in some cases, it involves the oral mucosa. Therefore, the appropriate diagnosis and timely treatment is essential to prevent local complications which interfere with normal oral functions and facilitate infection spread.
Immunoglobulins are special concentrated antibody preparations which provide immediate short-term protection against disease for individuals who are at high risk of experiencing severe disease or of developing serious complications from the disease.
A small organ in your upper chest, under your breastbone. Before birth and during childhood, the thymus helps the body make a type of white blood cell. These cells help protect you from infections.
A disk-shaped structure, found in the blood of mammals and important for its role in blood coagulation; platelets, which are formed by detachment of part of the cytoplasm of a megakaryocyte, lack a nucleus and DNA but contain active enzymes and mitochondria.
Defects in the JAK3 gene (Janus kinase 3) are a cause of autosomal recessive T-cell negative/B-cell positive severe combined immunodeficiency (T-B+ SCID), a condition characterized by the absence of circulating mature T-lymphocytes and NK cells, normal to elevated numbers of nonfunctional ...
