PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is an immune system disorder characterized by an allergic reaction to cold temperatures. Other immune system problems can also occur. The hallmark feature of PLAID is the development of a red, itchy rash (hives) when the skin is exposed to cool temperatures, which is known as cold urticaria.… Read More »
Comparatively speaking, your toilet seat is actually quite clean. Best Life1 went on a deep dive to discover the dirtiest areas in your home where bacteria may be lurking. These surfaces are likely touched each day without a second thought. Some are just teeming with bacteria. After years of being warned about the spread of… Read More »
Dutta AK. Schuurs-Hoeijmakers syndrome in a patient from India. Am J Med Genet A. 2019 Jan 28. doi: 10.1002/ajmg.a.61058. [Epub ahead of print] Gadzicki D, Döcker D, Schubach M, Menzel M, Schmorl B, Stellmer F, Biskup S, Bartholdi D. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. Clin Genet.… Read More »
Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25. Murdock DR, Jiang Y, Wangler M, Khayat MM,… Read More »