P
Peter Mustillo
Researcher at Nationwide Children's Hospital
Publications - 16
Citations - 901
Peter Mustillo is an academic researcher from Nationwide Children's Hospital. The author has contributed to research in topics: Immune dysregulation & Immune system. The author has an hindex of 5, co-authored 13 publications receiving 617 citations.
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Journal ArticleDOI
Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy
Bernice Lo,Kejian Zhang,Wei Lu,Lixin Zheng,Qian Zhang,Chrysi Kanellopoulou,Yu Zhang,Zhiduo Liu,Jill M. Fritz,Rebecca A. Marsh,Ammar Husami,Diane Kissell,Shannon Nortman,Vijaya Chaturvedi,Hilary Haines,Lisa R. Young,Jun Mo,Alexandra H. Filipovich,Jack J. Bleesing,Peter Mustillo,Michael C. Stephens,Cesar M. Rueda,Claire A. Chougnet,Kasper Hoebe,Joshua J McElwee,Jason D. Hughes,Elif Karakoc-Aydiner,Helen F. Matthews,Susan Price,Helen C. Su,V. Koneti Rao,Michael J. Lenardo,Michael B. Jordan +32 more
TL;DR: Patients with an autoimmune disorder caused by deficiency of a protein called LRBA responded dramatically to the drug abatacept, a CTLA4 (cytotoxic T lymphocyte antigen-4)–immunoglobulin fusion drug, and the relationship between the two proteins was revealed: LRBA controls the intracellular trafficking and degradation ofCTLA4.
Journal ArticleDOI
Coronavirus Disease 2019 in patients with inborn errors of immunity: an international study.
Isabelle Meyts,Giorgia Bucciol,Isabella Quinti,Bénédicte Neven,Alain Fischer,Elena Seoane,Eduardo López-Granados,Carla Gianelli,Angel Robles-Marhuenda,Pierre Yves Jeandel,Catherine Paillard,Vijay G. Sankaran,Vijay G. Sankaran,Yesim Yilmaz Demirdag,Vassilios Lougaris,Alessandro Aiuti,Alessandro Plebani,Cinzia Milito,Virgil A. S. H. Dalm,Kissy Guevara-Hoyer,Silvia Sánchez-Ramón,Liliana Bezrodnik,Federica Barzaghi,Luis Ignacio Gonzalez-Granado,Grant Hayman,Gulbu Uzel,Leonardo Oliveira Mendonça,Carlo Agostini,Giuseppe Spadaro,Raffaele Badolato,Annarosa Soresina,François Vermeulen,Cedric Bosteels,Bart N. Lambrecht,Michael A. Keller,Peter Mustillo,Roshini S. Abraham,Sudhir Gupta,Ahmet Ozen,Elif Karakoc-Aydiner,Safa Baris,Alexandra F. Freeman,Marco Yamazaki-Nakashimada,Selma Scheffler-Mendoza,Sara Elva Espinosa-Padilla,Andrew R. Gennery,Andrew R. Gennery,Stephen Jolles,Yazmin Espinosa,M. Cecilia Poli,Claire Fieschi,Fabian Hauck,Charlotte Cunningham-Rundles,Nizar Mahlaoui,Klaus Warnatz,Kathleen E. Sullivan,Stuart G. Tangye,Stuart G. Tangye +57 more
TL;DR: More than 30% of patients with IEI with SARS-CoV-2 infection had mild coronavirus disease 2019 (COVID-19) and risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients withIEI, including more younger patients.
Journal ArticleDOI
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.
Huie Jing,Qian Zhang,Yu Zhang,Brenna J. Hill,Christopher G. Dove,Erwin W. Gelfand,T. Prescott Atkinson,Gulbu Uzel,Helen F. Matthews,Peter Mustillo,David B. Lewis,Fotini D Kavadas,I. Celine Hanson,Ashish R Kumar,Raif S. Geha,Daniel C. Douek,Steven M. Holland,Alexandra F. Freeman,Helen C. Su +18 more
TL;DR: Observations support the concept that some DOCK8-immunodeficient patients have mutable mosaic genomes that can modulate disease phenotype over time, and only certain combinations of germline mutations supported secondary somatic repair.
Journal ArticleDOI
Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology.
Andrew J. Takeda,Timothy J. Maher,Yu Zhang,Stephen M. Lanahan,Molly L. Bucklin,Susan R Compton,Paul M. Tyler,William A. Comrie,Makoto Matsuda,Kenneth N. Olivier,Stefania Pittaluga,Joshua McElwee,Debra A. Long Priel,Douglas B. Kuhns,Roger L. Williams,Peter Mustillo,Matthias P. Wymann,V. Koneti Rao,Carrie L. Lucas +18 more
TL;DR: The authors identify PI3Kɣ mutations in a patient with immune dysregulation, and recapitulate the phenotypes in PI3kɣ-deficient mice by exposing them to natural microbiota from pet-shop mice.
Journal ArticleDOI
Tumor immune surveillance defect of X-linked severe combined immunodeficiency is not Epstein-Barr virus specific.
Peter Mustillo,Rajinder P.S. Bajwa,Amanda Termuhlen,Kathleen Nicol,Rebecca Scherzer,Ronald Jaffe,Alexandra H. Filipovich,Thomas G. Gross +7 more
TL;DR: This case illustrates that the cancer predilection associated with immunodeficient hosts may not be a specific immune defect in the recognition of viral specific antigens, and it could be a defect in immune surveillance necessary for elimination of cells with abnormalities in proliferation, function and/or apoptosis.