Research

This page contains information about Current Research and Publications on Yao Syndrome and NOD2. You will find a curated list of the latest studies, findings, and case reports. This includes links to each publication, ensuring you stay informed on emerging information and concepts.

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Frontiers - Research Topic

Updated: 12/3/25

Basic, clinical, and translational studies of Yao syndrome and other NOD2 related diseases

They welcome the submission of Case Reports (Case Series are preferential), Brief Research Reports, Original Research, and Review Articles on the following sub-topics:

Mechanistic studies of YAOS at the immune and molecular levels
Human and animal study results on interactions between NOD2 and other NOD-like receptors
NOD2-associated diseases: clinical, immune and molecular mechanisms, and therapeutic advances

Link

Current Research

Updated: 5/17/2026

NOD2-associated autoinflammatory disease with Pregnancy and Postpartum Flare-Ups: Treatment Challenges and Considerations

Publication Date:

April 6, 2026

Published:

JDDG

Nguyen, T.M., Nguyen, A.V. and Nguyen, G.H.

Authors:

Difficult-to-Treat Rheumatoid Arthritis With Concomitant Yao Syndrome With Response to Dual-Inhibitor Therapy

Publication Date:

March 1, 2026

Published:

PubMed

Aljundi, Nawar; Piranavan, Paramarajan

Authors:

An unusual presentation of dermatitis in a Yao syndrome patient

Publication Date:

February 1, 2026

Published:

PubMed

Alvi, Saira; Bloebaum, Liam; Hulse, Jack; Swanson, Allison; Oliver, Brittany; Rajpara, Anand

Authors:

Gastroenterological disorders in inborn errors of immunity. Part 1. Epidemiology, classification, symptoms, diagnosis, and treatment

Publication Date:

November 27, 2025

Published:

Europe PMC

Napiórkowska-Baran K, Treichel P, Koperska K, Kudrej O, Mućka N, Rajewska A, Wawrzeńczyk A, Bartuzi Z.

Authors:

Utilization of the All of Us Research Program in a study of genetics in Yao syndrome

Publication Date:

November 7, 2025

Published:

PubMed

Wu, Song; Deng, Zuoming; Uddin, Asif; Xin, Baozhong; Gorevic, Peter D; Yao, Qingping

Authors:

A review of inflammatory bowel diseases in humans and pets: treatment strategies

Publication Date:

October 15, 2025

Published:

Europe PMC

Abtahi Froushani SM, Hasani SJ, Ghaderi M, Mahmoudzadeh L.

Authors:

Gastrointestinal Manifestations of Yao Syndrome (NOD2-Associated Autoinflammatory Disease)

Publication Date:

October 1, 2025

Published:

PubMed

Damianos, John A; Nehra, Avinash K; Murray, Joseph A; Loftus, Edward V; Davis, John M; Nehra, Vandana

Authors:

Yao syndrome successfully treated with anakinra during pregnancy

Publication Date:

August 1, 2025

Published:

PubMed

Garrido Montes, Manuel; Garcia Morillo, Jose Salvador; Rodríguez Suárez, Santiago

Authors:

Genetically Transitional Disease and the Road to Personalized Medicine

Publication Date:

March 30, 2025

Published:

Genes

Yao Q, Gorevic PD, Gibson G.

Authors:

Yao Syndrome: An Overview of Genotypic Associations, Clinical Manifestations, Diagnosis, and Treatment

Publication Date:

January 1, 2025

Published:

PubMed

Khalid, Ayesha; Kaell, Alan

Authors:

Genetic variants in patients with recurrent pericarditis

Publication Date:

November 25, 2024

Published:

Journal of Cardiovascular Medicine

Imazio, Massimoa; Faletra, Flavioc; Zucco, Jessicac; Mio, Catiaa; Carraro, Matteoa; Gava, Alberto Mariaa; De Biasio, Marziab; Damante, Giuseppea; Collini, Valentinob

Authors:

Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series

Publication Date:

October 4, 2024

Published:

Frontiers in Immunology

Williamson, Katrina A.; Samec, Matthew J.; Patel, Jenny A.; Orandi, Amir B.; Wang, Benjamin; Crowson, Cynthia S.; Loftus, Edward V.; Alavi, Afsaneh; Moyer, Ann M.; Davis, John M.

Authors:

Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients

Publication Date:

September 2, 2024

Published:

Frontiers in Immunology

Zhang J, Huang X and Shen M

Authors:

Canakinumab in Yao Syndrome: Insights From a Comprehensive Case Report and Literature Review

Publication Date:

June 1, 2024

Published:

PubMed

Ahmad, Anam; Kilian, Adam

Authors:

Genetically transitional disease: conceptual understanding and applicability to rheumatic disease

Publication Date:

February 28, 2024

Published:

Nat. Rev. Rheumatol.

Niewold, T.B., Aksentijevich, I., Gorevic, P.D., Gibson, G., Qingping, Y.

Authors:

The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review

Publication Date:

January 29, 2024

Published:

Frontiers in Immunology

Karamanakos, Anastasios; Vougiouka, Olga; Sapountzi, Evdoxia; Venetsanopoulou, Aliki I.; Tektonidou, Maria G.; Germenis, Anastasios E.; Sfikakis, Petros P.; Laskari, Katerina

Authors:

Editorial: Basic, clinical, and translational studies of Yao syndrome and other NOD2 related diseases

Publication Date:

January 1, 2024

Published:

PubMed

Davis, John M; McDonald, Christine; Yao, Qingping

Authors:

Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients

Publication Date:

January 1, 2024

Published:

PubMed

Zhang, Jingyuan; Huang, Xin; Shen, Min

Authors:

Clinical Disease States Related to Mutations of the NOD2 Gene: A Case Report and Literature Review

Publication Date:

May 5, 2023

Published:

Cureus

Walia J, Mujahid R.

Authors:

Effectiveness of canakinumab for the treatment of patients with Yao syndrome

Publication Date:

March 1, 2023

Published:

Journal of the American Academy of Dermatology

Yao, Qingping

Authors:

Treatment of refractory Yao syndrome with canakinumab

Publication Date:

August 28, 2022

Published:

JAAD Case Reports

Brailsford CJ, Khamdan F, Elston DM

Authors:

An autoinflammatory syndrome with compound heterozygous MEFV and NOD2/CARD15 gene mutations successfully treated with tocilizumab

Publication Date:

May 9, 2022

Published:

Rheumatology Advances in Practice

Jeanie Lee, Lilian Bizzocchi, Ruchi Jain, Clement E Tagoe

Authors:

Macroglobulinemia and autoinflammatory disease

Publication Date:

December 21, 2021

Published:

Rheumatology and Immunology Research

Navetta-Modrov, Brianne and Yao, Qingping

Authors:

Yao syndrome: A potential role and association of vasoactive intestinal peptide with NOD2

Publication Date:

April 13, 2021

Published:

Rheumatology and Immunology Research

Navetta-Modrov, Brianne, Ghebrehiwet, Berhane and Yao, Qingping

Authors:

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report

Publication Date:

July 27, 2017

Published:

Pediatric Rheumatology

Dziedzic, M., Marjańska, A., Bąbol-Pokora, K. et al.

Authors:

Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease

Publication Date:

July 20, 2015

Published:

RMD Open

Caso F, Galozzi P, Costa L, Sfriso P, Cantarini L, Punzi L.

Authors:

Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations

Publication Date:

April 1, 2013

Published:

Journal of the American Academy of Dermatology

Yao, Qingping; Su, Le-Chu; Tomecki, Kenneth J.; Zhou, Lan; Jayakar, Bijal; Shen, Bo

Authors:

A new category of autoinflammatory disease associated with NOD2 gene mutations

Publication Date:

September 14, 2011

Published:

Arthritis Res. Ther.

Yao Q, Zhou L, Cusumano P, Bose N, Piliang M, Jayakar B, Su LC, Shen B

Authors:

The Immunopathogenesis of uveitis

Publication Date:

March 2, 2026

Published:

Europe PMC

Han J, Harper J, Copland DA, Maghsoudlou P.

Authors:

NOD2-Related Multisystem Inflammatory Disorders and Recent Advances

Publication Date:

February 12, 2026

Published:

Europe PMC

Wu D, Matsuda T, Xie D, Shen M, Dhar A, Davis JM, Shen B, Kambe N, Strober W, Yao Q.

Authors:

Evaluation of the Effect of IL-1 Antagonists on Pituitary Function

Publication Date:

January 11, 2026

Published:

Europe PMC

Aktas Koc F, Sariakcali B, Sahin A.

Authors:

Utilization of the All of Us Research Program in a study of genetics in Yao syndrome

Publication Date:

November 7, 2025

Published:

Journal of Allergy and Clinical Immunology

Wu S, Deng Z, Uddin A, Xin B, Gorevic PD, Yao Q

Authors:

A Comparative Study of Yao Syndrome and Primary Sjögren’s Syndrome

Publication Date:

October 27, 2025

Published:

ACR Convergence 2025

Bakshi N, Loh C, Wu S, Yao Q.

Authors:

NOD2-mediated immune dysregulation linking hidradenitis suppurativa and Yao syndrome: Insights from 2 cases

Publication Date:

October 1, 2025

Published:

PubMed

Akpala, Christeebella; Aghazadeh-Mohandesi, Nessa; Davis, John M; Alavi, Afsaneh

Authors:

Managing Yao Syndrome: A Case of Beneficial Treatment with Upadacitinib and Leflunomide

Publication Date:

September 1, 2025

Published:

PubMed

Hasbani, Georges El; Davis, John M

Authors:

Yao syndrome successfully treated with anakinra during pregnancy

Publication Date:

July 25, 2025

Published:

Medicina Clínica

Manuel Garrido Montes, Jose Salvador Garcia Morillo, Santiago Rodríguez Suárez

Authors:

Genotype-phenotype correlation in a cohort of pediatric patients with autoinflammatory diseases carrying NOD2 variants

Publication Date:

March 24, 2025

Published:

Frontiers in Immunology

Natale, Marco & Celani, Camilla & Federici, Silvia & Passarelli, Chiara & Perrone, Chiara & Marasco, Emiliano & De Benedetti, Fabrizio & Insalaco, Antonella

Authors:

Yao syndrome: a novel systemic autoinflammatory disease with cutaneous manifestations

Publication Date:

January 1, 2025

Published:

PubMed

Shakhashiro, Muna; Sadeghian, Shadi; Newcomer, Jack; Marzano, Angelo Valerio; Maronese, Carlo Alberto; Davis, John M; Alavi, Afsaneh

Authors:

Yao syndrome in a child with C2 deficiency

Publication Date:

November 1, 2024

Published:

PubMed

Cresoe-Ortiz, Samantha; Hall, Geoffrey; Randell, Rachel L; Lawrence, Monica G; Patel, Aarat; Peroutka, Christina; Yao, Qingping; Mousallem, Talal

Authors:

Comprehensive clinical phenotype, genotype and therapy in Yao syndrome

Publication Date:

September 19, 2024

Published:

Frontiers in Immunology

Nomani H, Wu S, Saif A, Hwang F, Metzger J, Navetta-Modrov B, Gorevic PD, Aksentijevich I and Yao Q

Authors:

Yao syndrome: a clinical observation of a non-paradigmatic autoinflammatory disease

Publication Date:

June 1, 2024

Published:

PubMed

Buján Bonino, Cecilia; Cánovas Seva, Carmen; Sáez Padilla, Jose; López-Pardo Rico, María; Loidi, Lourdes; Suárez Peñaranda, José Manuel; Rodríguez Granados, María Teresa

Authors:

Amyopathic dermatomyositis may be on the spectrum of autoinflammatory disease: A clinical review

Publication Date:

March 31, 2024

Published:

Rheumatology and Immunology Research

Sharmeen, Saika, Christopher-Stine, Lisa, Salvemini, Joann N., Gorevic, Peter, Clark, Richard and Yao, Qingping

Authors:

Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome

Publication Date:

February 23, 2024

Published:

PubMed

Zhang, Jingyuan; Luo, Yi; Wu, Bingxuan; Huang, Xin; Zhao, Mengzhu; Wu, Na; Miao, Junke; Li, Ji; Zhu, Lei; Wu, Di

Authors:

Comprehensive clinical phenotype, genotype and therapy in Yao syndrome

Publication Date:

January 1, 2024

Published:

PubMed

Nomani, Hafsa; Wu, Song; Saif, Ashmia; Hwang, Frank; Metzger, Jane; Navetta-Modrov, Brianne; Gorevic, Peter D; Aksentijevich, Ivona; Yao, Qingping

Authors:

Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series

Publication Date:

January 1, 2024

Published:

PubMed

Williamson, Katrina A; Samec, Matthew J; Patel, Jenny A; Orandi, Amir B; Wang, Benjamin; Crowson, Cynthia S; Loftus, Edward V; Alavi, Afsaneh; Moyer, Ann M; Davis, John M

Authors:

Implications of combined NOD2 and other gene mutations in autoinflammatory diseases

Publication Date:

October 18, 2023

Published:

Frontiers in Immunology

Nomani H, Deng Z, Navetta-Modrov B, Yang J, Yun M, Aroniadis O, Gorevic P, Aksentijevich I and Yao Q

Authors:

Yao syndrome: Cyclical folliculitis, fevers, and abdominal pain

Publication Date:

March 12, 2023

Published:

JAAD Case Reports

Ilhan Esse, Colin Kincaid, Luke Horton, Justin D. Arnold, Natasha A. Mesinkovska

Authors:

Treatment of refractory Yao syndrome with canakinumab

Publication Date:

November 1, 2022

Published:

JAAD Case Reports

Brailsford, Caroline J.; Khamdan, Fatima; Elston, Dirk M.

Authors:

Inflammatory Bowel Disease: Focus on Enteropathic Arthritis and Therapy

Publication Date:

July 6, 2022

Published:

Rheumatology and Immunology Research

Barkhodari, Amir & Lee, Kate & Shen, Min & Shen, Bo & Yao, Qingping

Authors:

NOD2 versus MEFV: Differential diagnosis of Yao syndrome and familial Mediterranean fever

Publication Date:

December 31, 2021

Published:

Rheumatology and Immunology Research

Yao, Qingping; Shen, Min; Gorevic, Peter

Authors:

Yao syndrome in pregnancy

Publication Date:

October 1, 2021

Published:

RANZCOG

Mahenthiran R, Orefice R

Authors:

Coincidence of NOD2-Associated Autoinflammatory Disease (Yao Syndrome) and HCV Infection With Fatal Consequences

Publication Date:

December 29, 2018

Published:

JCR: Journal of Clinical Rheumatology

Trueb, Beat; Zhuang, Lei; Keller, Irene; Köckritz, Leona von; Kuchen, Stefan; Dufour, Jean-François; Villiger, Peter M.

Authors:

A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease

Publication Date:

March 1, 2017

Published:

The American Journal of Medicine

Yao Q, Shen B.

Authors:

NOD2-associated autoinflammatory disease: a large cohort study

Publication Date:

June 11, 2015

Published:

Rheumatology

Yao Q, Shen M, McDonald C, Lacbawan F, Moran R, Shen B

Authors:

Immunologic and Genetic Markers in Patients With Idiopathic Ocular Inflammation and a Family History of Inflammatory Bowel Disease

Publication Date:

July 12, 2012

Published:

Am J Ophthalmol

Abbasian J, Martin TM, Patel S, Tessler HH, Goldstein DA

Authors:

Research

Frontiers - Research Topic

Basic, clinical, and translational studies of Yao syndrome and other NOD2 related diseases

Current Research

NOD2-associated autoinflammatory disease with Pregnancy and Postpartum Flare-Ups: Treatment Challenges and Considerations

Difficult-to-Treat Rheumatoid Arthritis With Concomitant Yao Syndrome With Response to Dual-Inhibitor Therapy

An unusual presentation of dermatitis in a Yao syndrome patient

Gastroenterological disorders in inborn errors of immunity. Part 1. Epidemiology, classification, symptoms, diagnosis, and treatment

Utilization of the All of Us Research Program in a study of genetics in Yao syndrome

A review of inflammatory bowel diseases in humans and pets: treatment strategies

Gastrointestinal Manifestations of Yao Syndrome (NOD2-Associated Autoinflammatory Disease)

Yao syndrome successfully treated with anakinra during pregnancy

Genetically Transitional Disease and the Road to Personalized Medicine

Yao Syndrome: An Overview of Genotypic Associations, Clinical Manifestations, Diagnosis, and Treatment

Genetic variants in patients with recurrent pericarditis

Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series

Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients

Canakinumab in Yao Syndrome: Insights From a Comprehensive Case Report and Literature Review

Genetically transitional disease: conceptual understanding and applicability to rheumatic disease

The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review

Editorial: Basic, clinical, and translational studies of Yao syndrome and other NOD2 related diseases

Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients

Clinical Disease States Related to Mutations of the NOD2 Gene: A Case Report and Literature Review

Effectiveness of canakinumab for the treatment of patients with Yao syndrome

Treatment of refractory Yao syndrome with canakinumab

An autoinflammatory syndrome with compound heterozygous MEFV and NOD2/CARD15 gene mutations successfully treated with tocilizumab

Macroglobulinemia and autoinflammatory disease

Yao syndrome: A potential role and association of vasoactive intestinal peptide with NOD2

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report

Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease

Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations

A new category of autoinflammatory disease associated with NOD2 gene mutations

The Immunopathogenesis of uveitis

NOD2-Related Multisystem Inflammatory Disorders and Recent Advances

Evaluation of the Effect of IL-1 Antagonists on Pituitary Function

Utilization of the All of Us Research Program in a study of genetics in Yao syndrome

A Comparative Study of Yao Syndrome and Primary Sjögren’s Syndrome

NOD2-mediated immune dysregulation linking hidradenitis suppurativa and Yao syndrome: Insights from 2 cases

Managing Yao Syndrome: A Case of Beneficial Treatment with Upadacitinib and Leflunomide

Yao syndrome successfully treated with anakinra during pregnancy

Genotype-phenotype correlation in a cohort of pediatric patients with autoinflammatory diseases carrying NOD2 variants

Yao syndrome: a novel systemic autoinflammatory disease with cutaneous manifestations

Yao syndrome in a child with C2 deficiency

Comprehensive clinical phenotype, genotype and therapy in Yao syndrome

Yao syndrome: a clinical observation of a non-paradigmatic autoinflammatory disease

Amyopathic dermatomyositis may be on the spectrum of autoinflammatory disease: A clinical review

Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome

Comprehensive clinical phenotype, genotype and therapy in Yao syndrome

Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series

Implications of combined NOD2 and other gene mutations in autoinflammatory diseases

Yao syndrome: Cyclical folliculitis, fevers, and abdominal pain

Treatment of refractory Yao syndrome with canakinumab

Inflammatory Bowel Disease: Focus on Enteropathic Arthritis and Therapy

NOD2 versus MEFV: Differential diagnosis of Yao syndrome and familial Mediterranean fever

Yao syndrome in pregnancy

Coincidence of NOD2-Associated Autoinflammatory Disease (Yao Syndrome) and HCV Infection With Fatal Consequences

A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease

NOD2-associated autoinflammatory disease: a large cohort study

Immunologic and Genetic Markers in Patients With Idiopathic Ocular Inflammation and a Family History of Inflammatory Bowel Disease

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