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Adenosine deaminase 2 deficiency. Deficiency of Adenosine deaminase 2 ( DADA2) is a monogenic disease associated with systemic inflammation and vasculopathy that affects a wide variety of organs in different patients. As a result, it is hard to characterize a patient with this disorder. Manifestations of the disease include but are not limited ...
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 10–20% of all cases of autosomal recessive forms of severe combined immunodeficiency (SCID) after excluding disorders related to inbreeding. [ 1][ 2] ADA deficiency can present ...
Haemophilia. Haemophilia ( British English ), or hemophilia ( American English) [ 6] (from Ancient Greek αἷμα (haîma) 'blood' and φιλία (philía) 'love of'), [ 7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. [ 2][ 3] This results in people bleeding for ...
The researchers found that the high genetic risk group had a 14.7-fold risk reduction in incidences of early-onset coronary artery disease, a 2.5-fold risk reduction in early-onset ischemic stroke ...
By Manas Mishra and Puyaan Singh. (Reuters) -The European Union's drugs regulator has rejected Eisai and Biogen's Leqembi treatment for early Alzheimer's disease, saying the risk of serious brain ...
August 12, 2024 at 7:22 AM. (Reuters) -Ascendis Pharma's said on Monday the U.S. Food & Drug Administration had approved its therapy to treat adult patients with a hormone disorder. Ascendis ...
De la Chapelle syndrome [ 1] Human karyotype 46 XX. Specialty. Medical genetics. XX male syndrome, also known as de la Chapelle syndrome, is a rare condition in which an individual with a 46,XX karyotype develops a male phenotype. [ 2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [ 3][ 4 ...
The NKX2-5 transcription factor may help myocytes endure cytotoxic stress, however further exploration in this field is required. [8] NK-2 homeobox genes are a family of genes that encode for numerous transcription factors that go on to aid in the development of many structures including the thyroid, colon, and heart.