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3. Consensus report from the Food Allergy Research & Education (FARE) 2019 Oral Immunotherapy for Food Allergy Summit

Author

Pepper, Amber N., Assa’ad, Amal, Blaiss, Michael, Brown, Emily, Chinthrajah, Sharon, Ciaccio, Christina, Fasano, Mary Beth, Gupta, Ruchi, Hong, Nurry, Lang, David, Mahr, Todd, Malawer, Erin, Roach, Anita, Shreffler, Wayne, Sicherer, Scott, Vickers, Kathleen, Vickery, Brian P., Wasserman, Richard, Yates, Kimberley, and Casale, Thomas B.

Published
2020
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5. Methylotroph infections and chronic granulomatous disease

Author

Falcone, E. Liana, Petts, Jennifer R., Fasano, Mary Beth, Ford, Bradley, Nauseef, William M., Neves, Joao Farela, Simoes, Maria Joao, Tierce, Millard L., IV., de la Morena, M. Teresa, Greenberg, David E., Zerbe, Christa S., Zelazny, Adrian M., and Holland, Steven M.

Subjects
Chronic granulomatous disease -- Health aspects, RNA -- Health aspects, Health
Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent infections of the lung, skin, lymph nodes, and liver, as well as granulomatous inflammation affecting those organs and hollow [...]

Published
2016
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6. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Author

Kumble, Smitha, Levy, Amanda, Punetha, Jaya, Gao, Hua, Ah Mew, Nicholas, Anyane-Yeboa, Kwame, Benke, Paul, Berger, Sara, Bjerglund, Lise, Campos-Xavier, Belinda, Ciliberto, Michael, Cohen, Julie, Comi, Anne, Curry, Cynthia, Damaj, Lena, Denommé-Pichon, Anne-Sophie, Emrick, Lisa, Faivre, Laurence, Fasano, Mary Beth, Fiévet, Alice, Finkel, Richard, García-Miñaúr, Sixto, Gerard, Amanda, Gomez-Puertas, Paulino, Guillen Sacoto, Maria, Hoffman, Trevor, Howard, Lillian, Iglesias, Alejandro, Izumi, Kosuke, Larson, Austin, Leiber, Anja, Lozano, Reymundo, Marcos-Alcalde, Iñigo, Mintz, Cassie, Mullegama, Sureni, Møller, Rikke, Odent, Sylvie, Oppermann, Henry, Ostergaard, Elsebet, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Paulson, Anna, Platzer, Konrad, Posey, Jennifer, Potocki, Lorraine, Revah-Politi, Anya, Rio, Marlene, Ritter, Alyssa, Robinson, Scott, Rosenfeld, Jill, Santos-Simarro, Fernando, Anyane‐Yeboa, Kwame, Campos‐Xavier, Belinda, Denommé‐Pichon, Anne‐Sophie, García‐Miñaúr, Sixto, Gomez‐Puertas, Paulino, Marcos‐Alcalde, Iñigo, Pacio‐Míguez, Marta, Palomares‐Bralo, Maria, Revah‐Politi, Anya, Santos‐Simarro, Fernando, Sombra, Sérgio Sousa, Wéber, Mathys, Xie, Yili, Chung, Wendy K., Brown, Natasha, Tümer, Zeynep, Murdoch Children's Research Institute (MCRI), Copenhagen University Hospital, Baylor College of Medicine (BCM), Baylor University, Icahn School of Medicine at Mount Sinai [New York] (MSSM), CHU Pontchaillou [Rennes], Université Bourgogne Franche-Comté [COMUE] (UBFC), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Institut Gustave Roussy (IGR), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Centre de référence Maladies Rares CLAD-Ouest [Rennes], CIBER de Enfermedades Raras (CIBERER), GeneDx [Gaithersburg, MD, USA], Columbia University Irving Medical Center (CUIMC), University of Melbourne, University of Copenhagen = Københavns Universitet (KU), Spanish Ministry of Science / State Research Agency projects. Grant Numbers: DTS20-00024, RTC-2017-6494-1, RTI2018-094434-B-I00 SFARI and JPB Foundation, Raregenomics network, financed by the Consejería de Educación de la C. de Madrid. Grant Number: S2017 / BMD-3721, European Comission JPIAMR projects CONNECT and AEPIC, National Center for Advancing Translational Sciences, National Institutes of Health. Grant Number: UL1TR001873, National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI). Grant Number: UM1 HG006542 Undiagnosed Diseases Network, European Social Fund, Rashid Family Fund, NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director. Grant Number: U01HG007709, ISCIII, Ministerio de Ciencia e Innovación. Grant Number: PI19/01681, Baylor Hopkins Center for Mendelian Genomics. Grant Numbers: NHGRI K08 HG008986, NHGRI/NLHBI UM1 HG006542, Centro Portugal Regional Operational Programme (CENTRO 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (ERDF). Grant Number: CENTRO-01-0247-FEDER-017800, Département de biologie et pathologie médicales [Gustave Roussy], Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and University of Copenhagen = Københavns Universitet (UCPH)

Subjects
Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], Dwarfism, Biology, Bioinformatics, Weight Gain, Short stature, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Neuroimaging, Seizures, variable expressivity, Intellectual disability, Genetics, medicine, Missense mutation, Humans, QRICH1, hypotonia, Genetics (clinical), 030304 developmental biology, 0303 health sciences, medicine.disease, Hypotonia, short stature, Scoliosis, variant, Autism spectrum disorder, Neurodevelopmental Disorders, intellectual disability, Muscle Hypotonia, medicine.symptom, 030217 neurology & neurosurgery
Abstract

De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability. The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum (ER) stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n=38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/intellectual disability (71%), non-specific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%), autism spectrum disorder (29%), seizures (24%) and scoliosis (18%). Minor structural brain abnormalities were reported in 52% of the individuals with brain imaging. Truncating or splice variants were found in 28 individuals and 10 had missense variants. Four variants were inherited from mildly affected parents. This study confirms that heterozygous QRICH1 variants cause a neurodevelopmental disorder including short stature and expands the phenotypic spectrum to include poor weight gain, scoliosis, hypotonia, minor structural brain anomalies, and seizures. Inherited variants from mildly affected parents are reported for the first time, suggesting variable expressivity. This article is protected by copyright. All rights reserved.

Published
2021

10. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Author

Kumble, Smitha, Levy, Amanda M., Punetha, Jaya, Gao, Hua, Ah Mew, Nicholas, Anyane‐Yeboa, Kwame, Benke, Paul J., Berger, Sara M., Bjerglund, Lise, Campos‐Xavier, Belinda, Ciliberto, Michael, Cohen, Julie S., Comi, Anne M., Curry, Cynthia, Damaj, Lena, Denommé‐Pichon, Anne‐Sophie, Emrick, Lisa, Faivre, Laurence, Fasano, Mary Beth, and Fiévet, Alice

Abstract

De novo variants in QRICH1 (Glutamine‐rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n = 38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/ID (71%), nonspecific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%), autism spectrum disorder (29%), seizures (24%) and scoliosis (18%). Minor structural brain abnormalities were reported in 52% of the individuals with brain imaging. Truncating or splice variants were found in 28 individuals and 10 had missense variants. Four variants were inherited from mildly affected parents. This study confirms that heterozygous QRICH1 variants cause a neurodevelopmental disorder including short stature and expands the phenotypic spectrum to include poor weight gain, scoliosis, hypotonia, minor structural brain anomalies, and seizures. Inherited variants from mildly affected parents are reported for the first time, suggesting variable expressivity. [ABSTRACT FROM AUTHOR]

Published
2022
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14. American Academy of Allergy, Asthma and Immunology response to the EAACI / GA 2 LEN / EDF / WAO guideline for the definition, classification, diagnosis, and management of Urticaria 2017 revision

Author

Wood, Robert A., primary, Khan, David A., additional, Lang, David M., additional, Fasano, Mary Beth, additional, Peden, David B., additional, Busse, Paula J., additional, Carter, Melody C., additional, Demain, Jeffrey G., additional, Dinakar, Chitra, additional, Grayson, Mitchell H., additional, Markovics, Sharon B., additional, Sicherer, Scott H., additional, Stone, Kelly D., additional, Sullivan, Kathleen E., additional, Williams, Paul V., additional, Fleisher, Thomas A., additional, and Casale, Thomas B., additional

Published
2018
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21. Velocardiofacial Syndrome

Author

Duke, Sanford G., McGuirt Jr, William F., Jewett, Tamison, and Fasano, Mary Beth

Subjects
Health
Published
2000

22. American Academy of Allergy, Asthma and Immunology response to the EAACI/GA2LEN/EDF/WAO guideline for the definition, classification, diagnosis, and management of Urticaria 2017 revision.

Author

Wood, Robert A., Khan, David A., Lang, David M., Fasano, Mary Beth, Peden, David B., Busse, Paula J., Carter, Melody C., Demain, Jeffrey G., Dinakar, Chitra, Grayson, Mitchell H., Markovics, Sharon B., Sicherer, Scott H., Stone, Kelly D., Sullivan, Kathleen E., Williams, Paul V., Fleisher, Thomas A., and Casale, Thomas B.

Subjects
URTICARIA, IMMUNOGLOBULIN E, MANAGEMENT, ALLERGIES, DIAGNOSIS, ASTHMA
Abstract

The article offers information on the EAACI/GA2LEN/EDF/WAO guideline update on urticaria which was published in the July 2018 issue of Allergy. Topics discussed include a strong recommendation to use provocation threshold measurements in management of patients with chronic inducible urticaria (CIU); mentions a number of therapeutic interventions for chronic urticaria, including doxepin; and also mentions the guideline states the use of omalizumab in pregnancy has been proven to be safe.

Published
2019
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31. Report of 8 Cases and Review of the Literature

Author

Fasano, Mary Beth, primary, Sullivan, Kathleen E., additional, Sarpong, Sampson B., additional, Wood, Robert A., additional, Jones, Stacie M., additional, Johns, Carol J., additional, Lederman, Howard M., additional, Bykowsky, Michael J., additional, Greene, Jeffrey M., additional, and Winkelstein, Jerry A., additional

Published
1996
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38. The Roles of Vaccination and Amantadine Prophylaxis in Controlling an Outbreak of Influenza A (H3N2) in a Nursing Home

Author

Arden, Nancy H., Patriarca, Peter A., Fasano, Mary Beth, Lui, Kung-Jong, Harmon, Maurice W., Kendal, Alan P., and Rimland, David

Abstract

• An outbreak caused by influenza A/Philippines/2/82 (H3N2)—like viruses occurred in a partially vaccinated nursing home population in January 1985. During the first six days of the outbreak, 14 (25%) of 55 residents developed influenzalike illness. The risk of illness was most strongly associated with undetectable levels of antibody against the epidemic strain, with unvaccinated case-patients having more severe illnesses and a higher rate of hospitalization than vaccinated case-patients (5/8 vs 0/6). During the period of amantadine hydrochloride prophylaxis (100 mg/d) from days 7 to 35, only two (5%) of the remaining 41 residents became ill, even though 11 (27%) had no detectable antibody. Serum amantadine levels obtained on day 35 ranged from 117 to 737 ng/mL (mean 309 ng/mL), similar to therapeutic levels documented in younger adults who have taken the standard regimen of 200 mg/d; there were few clinically significant side effects. These findings illustrate the benefits of influenza vaccination and support the use of amantadine hydrochloride at a dosage of 100 mg daily for outbreak control among elderly persons.(Arch Intern Med 1988;148:865-868)

Published
1988
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41. Desensitization for the management of clopidogrel hypersensitivity: initial clinical experience.

Author

Walker NE, Fasano MB, and Horwitz PA

Subjects
Adult, Aged, Clopidogrel, Coronary Disease drug therapy, Dose-Response Relationship, Drug, Drug Hypersensitivity physiopathology, Exanthema chemically induced, Exanthema physiopathology, Female, Humans, Male, Middle Aged, Platelet Aggregation drug effects, Platelet Aggregation Inhibitors immunology, Platelet Aggregation Inhibitors therapeutic use, Stroke drug therapy, Ticlopidine adverse effects, Ticlopidine immunology, Ticlopidine therapeutic use, Time Factors, Desensitization, Immunologic methods, Drug Hypersensitivity prevention & control, Platelet Aggregation Inhibitors adverse effects, Ticlopidine analogs & derivatives
Abstract

Platelet activation and aggregation play an important role in the pathogenesis of arterial thrombosis in coronary, cerebral and peripheral vascular beds. The antiplatelet agent clopidogrel has become a mainstay of treatment for patients with acute coronary syndromes and stroke, and to reduce ischemic complications after percutaneous coronary and peripheral interventions. There are, however, increasing numbers of reports of hypersensitivity reactions to clopidogrel. We present here a protocol for clopidogrel desensitization in isolated cutaneous reactions. Eight patients have completed the protocol successfully. Three subsequently underwent coronary intervention, and all are currently tolerating a daily clopidogrel dose a median of 7.5 months after desensitization. Desensitization may allow for the safe use of clopidogrel in patients with a history of prior cutaneous hypersensitivity reactions.

Published
2006

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