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Filipovich, Alexandra H.

A5110881926 | I1285204247

Mayo Clinic

Cincinnati Children's Hospital Medical Center

Citations 2

PAX1 is essential for development and function of the human thymus

Science Immunology | February 29, 2020 | Volume: 5 | Issue: 44 | Pages: No page available

10.1126/sciimmunol.aax1036 | PMID 32111619

PAX1deficiency causes a syndromic form of SCID by altering differentiation of thymic epithelial cells and other pharyngeal pouch tissues.
Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

Science | July 23, 2015 | Volume: 349 | Issue: 6246 | Pages: 436-440

10.1126/science.aaa1663 | PMID 26206937

Trafficking from bedside to bench Typically in translational research, a discovery in cell or molecular biology is later exploited to improve patient care. Occasionally, information flows in the opposite direction. Lo et al. found that patients with an autoimmune disorder caused by deficiency of a protein called LRBA responded dramatically to the drug abatacept (see the Perspective by Sansom). Abatacept contains a segment of a potent inhibitory immune receptor, CTLA4. Experiments prompted by this observation revealed the relationship between the two proteins: LRBA controls the intracellular trafficking and degradation of CTLA4. This information may further improve patient care, because other clinically approved drugs have the desired mechanism of action with potentially fewer side effects. Science , this issue p. 436 ; see also p. 377