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Paradoxical dominant negative activity of an immunodeficiency-associated activating variant.
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encodes three regulatory subunits of class IA phosphoinositide 3-kinase (PI3K), each associating with any of three catalytic subunits, namely p110α, p110β, or p110δ. Constitutional mutations cause diseases with a genotype-phenotype relationship not yet fully explained: heterozygous loss-of-function mutations cause SHORT syndrome, featuring insulin resistance and short stature attributed to reduced p110α function, while heterozygous activating mutations cause immunodeficiency, attributed to p110δ activation and known as APDS2. Surprisingly, APDS2 patients do not show features of p110α hyperactivation, but do commonly have SHORT syndrome-like features, suggesting p110α hypofunction.
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Department of Rheumatology, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Fort Lauderdale, USA.
Systemic lupus erythematosus (SLE) is a prevalent autoimmune condition worldwide resulting from the loss of tolerance against self-antigens. The constitutional symptoms of SLE are well-known, including fatigue, fever, myalgia, weight loss, arthralgia, arthritis, malar rash, and photosensitivity. These symptoms often overshadow the impacts SLE can have on all body systems, with the renal system frequently impacted.
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Foot tuberculosis is rarely reported in the literature, with most tuberculosis of the foot being an uncommon manifestation of skeletal tuberculosis. Early diagnosis and timely medical and surgical intervention can significantly reduce morbidity. A 23-year-old male presented with persistent swelling and pain in his right foot for six months, accompanied by a discharging sinus over the affected area in the last week, making weight-bearing increasingly difficult.
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Section of Endocrinology and Investigative Medicine, Imperial College London, London, UK.
The hypothalamic-pituitary-gonadal axis is regulated by the gonadotropin-releasing hormone pulse generator in the hypothalamus. This is comprised of neurons that secrete kisspeptin in a pulsatile manner to stimulate the release of GnRH, and, in turn, downstream gonadotropins from the pituitary gland, and subsequently sex steroids and gametogenesis from the gonads. Many reproductive disorders in both males and females are characterized by hypothalamic dysfunction, including functional disorders (such as age-related hypogonadism, obesity-related secondary hypogonadism, hyperprolactinemia, functional hypothalamic amenorrhea and polycystic ovary syndrome), structural pathologies (such as craniopharyngiomas or radiation or surgery-related hypothalamic dysfunction), and pubertal disorders (constitutional delay of growth and puberty and congenital hypogonadotropic hypogonadism).
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