Publications by authors named "Kate Del Bel"

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Early-preschool wheeze trajectories are predominantly nonallergic with distinct biologic and microbiome traits.
Zihang Lu, Charisse Petersen, Ruixue Dai, Myrtha E Reyna, Mojtaba Ahmadiankalati, Kate L Del Bel

J Allergy Clin Immunol· December 2025

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ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.
Maggie P Fu, Mehul Sharma, Pariya Yousefi, Sarah M Merrill, Ryan Tan, Kate L Del Bel

J Exp Med· October 2025

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Human germline biallelic loss-of-function variants cause severe allergic disease.
Mehul Sharma, Simran Samra, Yihui Liu, Alyssa James, Christina Michalski, Kate L Del Bel

medRxiv· August 2025

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Early prediction of pediatric asthma in the Canadian Healthy Infant Longitudinal Development (CHILD) birth cohort using machine learning.
Ping He, Theo J Moraes, Darlene Dai, Myrtha E Reyna-Vargas, Ruixue Dai, Kate L Del Bel

Pediatr Res· June 2024

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Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Duha Hejla, Stephanie Huynh, Simran Samra, Phillip A Richmond, Joshua Dalmann, Kate L Del Bel

Am J Med Genet A· June 2024

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Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L Del Bel, Loryn Byres

HGG Adv· January 2024

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Sensory neurons promote immune homeostasis in the lung.
Masato Tamari, Kate L Del Bel, Aaron M Ver Heul, Lydia Zamidar, Keisuke Orimo

Cell· January 2024

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Dominant negative variants in cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Arezoo Mohajeri, Maryam Vaseghi-Shanjani, Jill A Rosenfeld, Gui Xiang Yang, Henry Lu, Kate L Del Bel

J Med Genet· November 2023

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Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.
Adam P Sage, Hyun Kyung Lee, Joshua Dalmann, Susan Lin, Simran Samra, Kate L Del Bel

Am J Med Genet A· August 2023

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Delayed gut microbiota maturation in the first year of life is a hallmark of pediatric allergic disease.
Courtney Hoskinson, Darlene L Y Dai, Kate L Del Bel, Allan B Becker, Theo J Moraes

Nat Commun· August 2023

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Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Kate L Del Bel, Isabelle Meyts

J Exp Med· May 2023

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Breastfeeding enrichment of B. longum subsp. infantis mitigates the effect of antibiotics on the microbiota and childhood asthma risk.
Darlene L Y Dai, Charisse Petersen, Courtney Hoskinson, Kate L Del Bel, Allan B Becker

Med· February 2023

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A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.

Sci Immunol· January 2023

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Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
Catherine M Biggs, Anna Cordeiro-Santanach, Sergey V Prykhozhij, Adam P Deveau, Yi Lin, Kate L Del Bel

JCI Insight· December 2022

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Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Mehul Sharma, Maggie P Fu, Henry Y Lu, Ashish A Sharma, Bhavi P Modi, Kate L Del Bel

Blood· October 2022

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Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Nour Gazzaz, F Graeme Frost, Emily Alderman, Phillip A Richmond, Joshua Dalmann, Kate L Del Bel

Am J Med Genet A· October 2022

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Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
Hui-Lin Chin, Susan Lin, Joshua Dalmann, Bhavi Modi, Emily Alderman, Kate L Del Bel

Eur J Med Genet· March 2022

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A Novel Germline Heterozygous Variant Causing Severe Atopic Disease and Immune Dysregulation.
Henry Y Lu, Robert Sertori, Alejandra V Contreras, Mark Hamer, Melina Messing, Kate L Del Bel

Front Immunol· February 2022

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Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
Bhavi P Modi, Kate L Del Bel, Susan Lin, Mehul Sharma, Phillip A Richmond

Allergy Asthma Clin Immunol· January 2021

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Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.
Geraldine Blanchard-Rohner, Robert J Ragotte, Anne K Junker, Mehul Sharma, Kate L Del Bel

BMC Pediatr· January 2021

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Recurrent sterile abscesses in a case of X-linked neutropenia.
Catherine M Biggs, Bhavi Modi, Michelle Steinraths, Kate Del Bel, Persia Pourshahnazari

Pediatr Dermatol· July 2020

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A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.
Taylor Novice, Amina Kariminia, Kate L Del Bel, Henry Lu, Mehul Sharma

J Clin Immunol· February 2020

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IVIg and LPS Co-stimulation Induces IL-10 Production by Human Monocytes, Which Is Compromised by an FcγRIIA Disease-Associated Gene Variant.
Lisa K Kozicky, Susan C Menzies, Zheng Yu Zhao, Tariq Vira, Kiera Harnden, Kate L Del Bel

Front Immunol· October 2019

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JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
Kate L Del Bel, Robert J Ragotte, Aabida Saferali, Susan Lee, Suzanne M Vercauteren

J Allergy Clin Immunol· June 2017

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The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.
Robert J Ragotte, Anita Dhanrajani, Julian Pleydell-Pearce, Kate L Del Bel, Maja Tarailo-Graovac

Clin Immunol· February 2017

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