Tag: Immunodeficiency
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Structure of DNA repair protein XRCC4 aka X-ray repair cross-complementing protein 4
XRCC4 protein is a TETRAMER that resembles the shape of a DUMBBELL containing two globular ends separated by a long, thin stalk. The tetramer is composed of two dimers, and each dimer is made up of two similar subunits. The first subunit (L) contains amino acid residues 1 – 203 and has a longer stalk than the second…
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The transforming growth factor beta receptors
a family of serine/threonine kinase receptors involved in TGF beta signaling pathway
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Adenosine deaminase deficiency (ADA deficiency) was discovered in 1972 and recognized as the first immunodeficiency disorder
Adenosine deaminase deficiency (ADA deficiency) is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts for about 10–15% of all cases of autosomal recessive forms of severe combined immunodeficiency (SCID) among non-inbred populations. ADA deficiency can present in infancy, childhood, adolescence, or adulthood. Age of onset and severity is related to some 29 known genotypes associated with the disorder. It occurs…
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Adenosine
Adenosine (symbol A) is an organic compound that occurs widely in nature in the form of diverse derivatives. The molecule consists of an adenine attached to a ribose via a β-N9–glycosidic bond. Adenosine is one of the four nucleoside building blocks of RNA (and its derivative deoxyadenosine is a building block of DNA), which are essential for all life. Its derivatives include the energy carriers adenosine mono-, di-, and triphosphate, also…