Husami, Ammar
https://orcid.org/0000-0002-4287-2857
Mayo Clinic
Cincinnati Children's Hospital Medical Center
Citations 2
Clinical delineation of the PACS1‐related syndrome—Report on 19 patients
Schuurs-Hoeijmakers, Janneke , Landsverk, Megan , Foulds, Nicola , Kukolich, Mary K. , Gavrilova, Ralitza H. , Greville‐Heygate, Stephanie , Hanson‐Kahn, Andrea , Bernstein, Jonathan A. , Glass, Jennifer, Burrow, Thomas Andrew, Husami, Ammar , Collins, Kathleen , Wusik, Katie, Aa, Nathalie Van der, Kooy, R. Frank , Brown, Kate Tatton, Gadzicki, Dorothea, Kini, Usha , McGehee, Frank T., Selby, Katherine, Tarailo‐Graovac, Maja , Allen, Margot Van, Stavropoulos, Dimitri J. , Marshall, Christian R. , Merico, Daniele , Gregor, Anne , Zweier, Christiane , Chu, Yoyo W. Y., Vries, Bert B.A. de , Brunner, Han G. , study, DDD, Chitayat, David A. , Collins, Kathleen , Álvarez, Sara , Fernández‐Jaén, Alberto , Allen, Margot I. Van, Karnebeek, Clara van , Hopkin, Robert J. , Chung, Hon-Yin B , Devriendt, Koenraad , Hurles, Matthew E. , study, DDD, Kooy, Frank , de Vries, Bert B A
American Journal of Medical Genetics Part A | February 4, 2016 | Volume: 170 | Issue: 3 | Pages: 670-675
We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific mutation gives rise to a recognizable intellectual disability syndrome. There is a distinctive facial appearance (19/19), characterized by full and arched eyebrows, hypertelorism with downslanting palpebral fissures, long eye lashes, ptosis, low set and simple ears, bulbous nasal tip, wide mouth with downturned corners and a thin upper lip with an unusual “wavy” profile, flat philtrum, and diastema of the teeth. Intellectual disability, ranging from mild to moderate, was present in all. Hypotonia is common in infancy (8/19). Seizures are frequent (12/19) and respond well to anticonvulsive medication. Structural malformations are common, including heart (10/19), brain (12/16), eye (10/19), kidney (3/19), and cryptorchidism (6/12 males). Feeding dysfunction is presenting in infancy with failure to thrive (5/19), gastroesophageal reflux (6/19), and gastrostomy tube placement (4/19). There is persistence of oral motor dysfunction. We provide suggestions for clinical work‐up and management and hope that the present study will facilitate clinical recognition of further cases. © 2016 Wiley Periodicals, Inc.
Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy
Lo, Bernice , Zhang, Kejian , Lü, Wei , Zheng, Lixin , Zhang, Qian , Kanellopoulou, Chrysi, Zhang, Yu , Liu, Zhiduo , Fritz, Jill M. , Marsh, Rebecca , Husami, Ammar , Kissell, Diane, Nortman, Shannon, Chaturvedi, Vijaya, Haines, Hilary , Young, Lisa R. , Mo, Jun , Filipovich, Alexandra H., Bleesing, Jack , Mustillo, Peter , Stephens, Michael C., Rueda, Cesar M., Chougnet, Claire , McElwee, Joshua , Hughes, Jason D. , Karakoç-Aydıner, Elif , Matthews, Helen, Price, Susan , Su, Helen C. , Rao, V. Koneti , Lenardo, Michael J. , Jordan, Michael B. , Stephens, Michael, Liu, Zhiduo, Hoebe, Kasper H. N. , Su, Helen C
Science | July 23, 2015 | Volume: 349 | Issue: 6246 | Pages: 436-440
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