POLI HARLOWE, MARIA CECILIA BERTA
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POLI HARLOWE, MARIA CECILIA BERTA
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mpoli@alemana.cl
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57214078113

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2021 2021 2020 2020 2019 2019 2018 2018 0.0 0.0 0.5 0.5 1.0 1.0 1.5 1.5 2.0 2.0 2.5 2.5 3.0 3.0

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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

2018 , Ivan K. Chinn , Olive S. Eckstein , Erin C. Peckham-Gregory , Baruch R. Goldberg , Lisa R. Forbes , Sarah K. Nicholas , Emily M. Mace , Tiphanie P. Vogel , Harshal A. Abhyankar , Maria I. Diaz , Helen E. Heslop , Robert A. Krance , Caridad A. Martinez , Trung C. Nguyen , Dalia A. Bashir , Jordana R. Goldman , Asbjørg Stray-Pedersen , Luis A. Pedroza , POLI HARLOWE, MARIA CECILIA BERTA , Juan C. Aldave-Becerra , Sean A. McGhee , Waleed Al-Herz , Aghiad Chamdin , Zeynep H. Coban-Akdemir , Shalini N. Jhangiani , Donna M. Muzny , Tram N. Cao , Diana N. Hong , Richard A. Gibbs , James R. Lupski , Jordan S. Orange , Kenneth L. McClain , Carl E. Allen

Key Points Whole-exome sequencing may identify specific therapeutic opportunities for patients with HLH. HLH should be conceptualized as a critical illness phenotype driven by toxic activation of immune cells from different underlying mechanisms.

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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

2018 , Zeynep Coban-Akdemir , Janson J. White , Xiaofei Song , Shalini N. Jhangiani , Jawid M. Fatih , Tomasz Gambin , Yavuz Bayram , Ivan K. Chinn , Ender Karaca , Jaya Punetha , Cecilia Poli , Eric Boerwinkle , Chad A. Shaw , Jordan S. Orange , Richard A. Gibbs , Tuuli Lappalainen , James R. Lupski , Claudia M.B. Carvalho

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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

2020 , Sarah A. Cook , William A. Comrie , POLI HARLOWE, MARIA CECILIA BERTA , Morgan Similuk , Andrew J. Oler , Aiman J. Faruqi , Douglas B. Kuhns , Sheng Yang , Alexander Vargas-Hernández , Alexandre F. Carisey , Benjamin Fournier , D. Eric Anderson , Susan Price , Margery Smelkinson , Wadih Abou Chahla , Lisa R. Forbes , Emily M. Mace , Tram N. Cao , Zeynep H. Coban-Akdemir , Shalini N. Jhangiani , Donna M. Muzny , Richard A. Gibbs , James R. Lupski , Jordan S. Orange , Geoffrey D. E. Cuvelier , Moza Al Hassani , Nawal Al Kaabi , Zain Al Yafei , Soma Jyonouchi , Nikita Raje , Jason W. Caldwell , Yanping Huang , Janis K. Burkhardt , Sylvain Latour , Baoyu Chen , Gehad ElGhazali , V. Koneti Rao , Ivan K. Chinn , Michael J. Lenardo

An inherited disorder makes WAVEs The WAVE regulatory complex (WRC) is a multiunit complex that regulates actin cytoskeleton formation. Although other actin-regulatory proteins modulate human immune responses, the precise role for the WRC has not yet been established. Cook et al. studied five patients from four unrelated families who harbor missense variants of the gene encoding the WRC component HEM1. These patients presented with recurrent infections and poor antibody responses, along with enhanced allergic and autoimmune disorders. HEM1 was found to be required for the regulation of cortical actin and granule release in T cells and also interacted with a key metabolic signaling complex contributing to the disease phenotype. By linking these interactions to immune function, this work suggests potential targets for future immunotherapies. Science , this issue p. 202

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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

2021 , Francesco Saettini , POLI HARLOWE, MARIA CECILIA BERTA , Jaime Vengoechea , Sonia Bonanomi , Julio C. Orellana , Grazia Fazio , Fred H. Rodriguez , Loreani P. Noguera , Claire Booth , Valentina Jarur-Chamy , Marissa Shams , Maria Iascone , Maja Vukic , Serena Gasperini , Manuel Quadri , Amairelys Barroeta Seijas , Elizabeth Rivers , Mario Mauri , Raffaele Badolato , Gianni Cazzaniga , Cristina Bugarin , Giuseppe Gaipa , Wilma G. M. Kroes , Daniele Moratto , Monique M. van Oostaijen-ten Dam , Frank Baas , Silvère van der Maarel , Rocco Piazza , Zeynep H. Coban-Akdemir , James R. Lupski , Bo Yuan , Ivan K. Chinn , Lucia Daxinger , Andrea Biondi

Abstract Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia. We identified homozygous or compound-heterozygous variants in the gene for folliculin interacting protein 1 (FNIP1), leading to loss of the FNIP1 protein. B-cell metabolism, including mitochondrial numbers and activity and phosphatidylinositol 3-kinase/AKT pathway, was impaired. These defects recapitulated the Fnip1−/− animal model. Moreover, we identified either uniparental disomy or copy-number variants (CNVs) in 2 patients, expanding the variant spectrum of this novel inborn error of immunity. The results indicate that FNIP1 deficiency can be caused by complex genetic mechanisms and support the clinical utility of exome sequencing and CNV analysis in patients with broad phenotypes, including agammaglobulinemia and HCM. FNIP1 deficiency is a novel inborn error of immunity characterized by early and severe B-cell development defect, agammaglobulinemia, variable neutropenia, and HCM. Our findings elucidate a functional and relevant role of FNIP1 in B-cell development and metabolism and potentially neutrophil activity.

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Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

2019 , Aidé Tamara Staines Boone , Ivan K. Chinn , Carmen Alaez-Versón , Marco A. Yamazaki-Nakashimada , Karol Carrillo-Sánchez , María de la Luz Hortensia García-Cruz , POLI HARLOWE, MARIA CECILIA BERTA , M. Edith González Serrano , Edgar A. Medina Torres , David Muzquiz Zermeño , Lisa R. Forbes , Francisco J. Espinosa-Rosales , Sara E. Espinosa-Padilla , Jordan S. Orange , Saul Oswaldo Lugo Reyes

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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

2019 , Alejandra Aird , Macarena Lagos , Alexander Vargas-Hernández , Jennifer E. Posey , Zeynep Coban-Akdemir , Shalini Jhangiani , Emily M. Mace , Anaid Reyes , Alejandra King , Felipe Cavagnaro , Lisa R. Forbes , Ivan K. Chinn , James R. Lupski , Jordan S. Orange , POLI HARLOWE, MARIA CECILIA BERTA

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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

2018 , POLI HARLOWE, MARIA CECILIA BERTA , Frédéric Ebstein , Sarah K. Nicholas , Marietta M. de Guzman , Lisa R. Forbes , Ivan K. Chinn , Emily M. Mace , Tiphanie P. Vogel , Alexandre F. Carisey , BENAVIDES GONZALEZ, FELIPE ORLANDO , Zeynep H. Coban-Akdemir , Richard A. Gibbs , Shalini N. Jhangiani , Donna M. Muzny , Claudia M.B. Carvalho , Deborah A. Schady , Mahim Jain , Jill A. Rosenfeld , Lisa Emrick , Richard A. Lewis , Brendan Lee , Barbara A. Zieba , Sébastien Küry , Elke Krüger , James R. Lupski , Bret L. Bostwick , Jordan S. Orange

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