Blau syndrome with atrophoderma vermiculata-like appearance: a case report.

NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.

Clinical features, treatment strategies, and long-term outcomes of Blau syndrome: a 10-year experience from a Chinese cohort.

Potential benefits of JAK inhibitor therapy in Blau syndrome: a case report.

A case report: Guillain-Barré syndrome probably associated with TNF inhibitor in Blau syndrome.

Blau syndrome treated with a combination of Tripterygium wilfordii and corticosteroids: a case description.

Exploring the role of NOD2 variants in pediatric undifferentiated recurrent fever: a clinical and functional perspective.

Flow Cytometric Expression of Nucleotide-Binding Oligomerization Domain Containing 2 (NOD2) Protein: An Effective Screening Tool for Blau Syndrome.

Severe tenosynovitis with rapidly fluctuating power Doppler activity, a clue for the diagnosis of Blau syndrome: a case report.

Vasculitis in autoinflammatory diseases.

Resolving the field: a role for Nod2 in T cells.

Case report and review of the literature: a unique presentation of Blau syndrome in a Palestinian family.

Paediatric Ocular Sarcoidosis - Clinical Profiles from a Tertiary Eye Care Centre in South India.

Patterns and Outcomes of Childhood Non-Infectious Uveitis: A Retrospective Cohort and Review of Literature.

Expanding the Cutaneous Presentation of Blau Syndrome, Response to Treatment, and Correlation With Genetics.

[A rare clinical presentation of a patient with Blau syndrome confirmed by genetic analysis].

Straight A's: protein acylation in the S-activation and autophagic degradation of NOD-like receptors.

Blau Syndrome (Juvenile Systemic Granulomatosis): State-Of-The-Art Review.

Biopsy-proven granulomatous neuromyopathy in a case of Blau syndrome.

Long-term prognosis of 47 pediatric patients with Blau syndrome in China.

Case Report: Blau Syndrome With Thrombocytopenia.

Retinal Vasculitis in Familial Blau Syndrome.

Blau syndrome with skin rash and tenosynovitis.

Effective Treatment of Janus Kinase 1/3 Inhibitor in Blau Syndrome From a Multicenter Retrospective Study in Central China.

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

Treatment of uveitis in Blau syndrome: A systematic review and meta-analysis.

[Monogenic autoinflammatory uveitis].

Blau syndrome mimics Takayasu's arteritis: Report of 2 cases with literature review.

Comprehensive clinical phenotype, genotype and therapy in Yao syndrome.

Towards New Anti-Inflammatory Agents: Design, Synthesis and Evaluation of Molecules Targeting XIAP-BIR2.

Mycobacterium paratuberculosis: A HERV Turn-On for Autoimmunity, Neurodegeneration, and Cancer?

Proteomic Profiling of Tears in Blau Syndrome Patients in Identification of Potential Disease Biomarkers.

Blau syndrome-the skin as a warning sign.

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases.

Pulmonary granulomas confirmed in Blau syndrome using TBLC specimens: Case report.

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

Role and molecular mechanism of NOD2 in chronic non-communicable diseases.

Sarcoidosis-Lymphoma Syndrome and Common Variable Immunodeficiency Disorder: Finding the Zebra and Overcoming Health Disparity Barriers.

Blau syndrome presenting as lipoma arborescens.

Late-Onset Panuveitis in a Chinese Girl with Sporadic Blau Syndrome: A Case Report.

Blau Syndrome With Delayed Cutaneous Manifestations: A Case Report.

Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome.

Intravitreal Fluocinolone Acetonide 0.19 mg Implant in a Patient with Resistant Blau Syndrome: A Case Report.

Long-Term Visual Outcome of Patients with Blau Syndrome.

A Successful Prevention of Reintubation Using the Mechanical Insufflation-Exsufflation in a Critically Ill Patient With Impaired Airway Mucus Expectoration: A Case Report.

Sarcoid Uveitis in Children.

Molecular diagnostic yield for Blau syndrome in previously diagnosed juvenile idiopathic arthritis with uveitis or cutaneous lesions.

Case Report: Methotrexate and hydroxychloroquine in combination for the treatment of NOD2-mutation-associated Blau syndrome.

Efficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study.

Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study.

Management of Blau syndrome: review and proposal of a treatment algorithm.

Ocular sarcoidosis in adults and children: update on clinical manifestation and diagnosis.

A diagnostic challenge: misdiagnosing Blau syndrome as juvenile dermatomyositis in a pediatric patient.

Autoinflammatory gene mutations associated with eosinophilia and asthma.

Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India - Case series and review of literature.

Blau syndrome with hypertension and hepatic granulomas: a case report and literature review.

Tofacitinib, a suppressor of NOD2 expression, is a potential treatment for Blau syndrome.

Blau syndrome with persistent fetal vasculature: a case report.

Imaging inflammation in early-onset sarcoidosis: granulomatous anterior uveitis in a 7-year-old girl.

Differential diagnosis of pulmonary sarcoidosis: a review.

Blau syndrome with NOD2 mutation in a 54-year-old man: A case report.

Yao syndrome: Cyclical folliculitis, fevers, and abdominal pain.

Sarcoidosis, Mycobacterium paratuberculosis and Noncaseating Granulomas: Who Moved My Cheese.

Recent advances in the development of RIPK2 modulators for the treatment of inflammatory diseases.

A Chinese girl of Blau syndrome with renal arteritis and a literature review.

Detection of Propionibacterium acnes in cutaneous lichenoid sarcoidosis in a patient with Blau syndrome.

[Clinical analysis of 49 cases of non-inflammasome related conditions].

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.

Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.

Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India.

Treatment of refractory Yao syndrome with canakinumab.

Monogenic disorders as mimics of juvenile idiopathic arthritis.

Potential Benefits of TNF Targeting Therapy in Blau Syndrome, a NOD2-Associated Systemic Autoinflammatory Granulomatosis.

Common condition with uncommon cause: fungal folliculitis in immunosuppressed patient with Blau syndrome.

Clinical and immunological study of Tofacitinib and Baricitinib in refractory Blau syndrome: case report and literature review.

Progress in the genetics of uveitis.

Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis.

Blau syndrome: An under-reported condition in India?

A Pro-Inflammatory Signature Constitutively Activated in Monogenic Autoinflammatory Diseases.

Manifestation of Panuveitis after Intraocular Surgery in a Child with Blau Syndrome.

Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome.

Multimodal imaging in pediatric uveitis.

Corneal Ulcers with NOD2 Mutations Presenting with Mixed Syndromic Phenotype.

Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients.

Thalidomide may be an effective drug for Blau syndrome: a case report.

Experience of Autoimmune and autoinflammatory diseases in a Turkish pediatric cohort with primary immunodeficiencies.

Structural localization of pathogenic mutations in the central nucleotide-binding domain (NBD) of nucleotide-binding oligomerization domain-2 (NOD2) protein and their inference in inflammatory disorders.

[A case of hydrocephalus during the course of sporadic Blau syndrome].

Ocular involvement in monogenic autoinflammatory disease.

IMMUNE-MEDIATED INTRAOCULAR INFLAMMATION. A REVIEW.

Blau syndrome: a case report from Palestine.

Warm, Sweetened Milk at the Twilight of Immunity - Alzheimer's Disease - Inflammaging, Insulin Resistance, M. paratuberculosis and Immunosenescence.

A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.

Anti-TNF treatment corrects IFN-γ-dependent proinflammatory signatures in Blau syndrome patient-derived macrophages.

Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosis.

Sustained Surface ICAM-1 Expression and Transient PDGF-B Production by Phorbol Myristate Acetate-Activated THP-1 Cells Harboring Blau Syndrome-Associated NOD2 Mutations.

Anterior Segment-Optical Coherence Tomography features in Blau syndrome.

Blau syndrome with pulmonary nodule in a child.

Prominent tenosynovitis on ultrasonography: A useful sign for the diagnosis of Blau syndrome.

First report of liver transplantation in Blau syndrome: The challenges faced in this rare granulomatous liver disease.

A novel mutation in early-onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes.

NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination.

Distinguishing Blau Syndrome from Systemic Sarcoidosis.

Sacroiliac involvement in Blau Syndrome.

Persistent Tenosynovitis, Steroid Dependency and a Hyperpigmented Scaly Macular Rash in a Child With Juvenile Idiopathic Arthritis.

T cell-intrinsic role for Nod2 in protection against Th17-mediated uveitis.

Ocular manifestations of Blau syndrome.

Chinese family with Blau syndrome: Mutated NOD2 allele transmitted from the father with de novo somatic and germ line mosaicism.

Systematic Assessment of Mycobacterium avium Subspecies Paratuberculosis Infections from 1911-2019: A Growth Analysis of Association with Human Autoimmune Diseases.

Overview of the rarest causes of fever in newborns: handy hints for the neonatologist.

Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.

Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.

Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature.

RIPK2 NODs to XIAP and IBD.

Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosis.

Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis.

Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report.

Clinical Profile in Genetically Proven Blau Syndrome: A Case Series from South India.

Designation of Autoinflammatory Skin Manifestations With Specific Genetic Backgrounds.

Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.

Camptodactlyly in Pediatric Practice: Blau Syndrome.

Computational model to analyze and characterize the functional mutations of NOD2 protein causing inflammatory disorder - Blau syndrome.

Blau syndrome following a bacterial infection.

Proposing BCG Vaccination for Mycobacterium avium ss. paratuberculosis (MAP) Associated Autoimmune Diseases.

Early onset sarcoidosis (Blau syndrome): erosive and often misdiagnosed.

Blau syndrome: a rare cause of exuberant granulomatous synovitis of the knee.

IMMUNE-MEDIATED INTRAOCULAR INFLAMMATION. A REVIEW.

Giant Cell Tumor of Tendon Sheath and Tendinopathy as Early Features of Early Onset Sarcoidosis.

Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.

Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).

Pediatric Sarcoidosis: A Review with Emphasis on Early Onset and High-Risk Sarcoidosis and Diagnostic Challenges.

Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome.

Cows Get Crohn's Disease and They're Giving Us Diabetes.

Blau syndrome with a rare mutation in exon 9 of NOD2 gene.

Blau Syndrome Associated with Nucleotide-binding Oligomerization Domain Containing 2 Mutation in a Baby from Malaysia.

Early-onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome.

Early-onset sarcoidosis presenting as a generalized papular eruption.

Somatic mosaicism in adult-onset TNF receptor-associated periodic syndrome (TRAPS).

An unusual cause of deforming erosive arthritis in an adult.

Sporadic Blau syndrome treated with adalimumab.

Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases.

An Original Description of Granulomatous Liver Cirrhosis in Blau Syndrome.

Blau Syndrome: Report of a Rare Entity with Congenital Ostium Secundum Atrial Septal Defect in a 7-year-old Chinese Girl.

Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine.

A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review.

Characterization of Blau syndrome panuveitis with wide-field fluorescein angiography.

Ocular Features in Chinese Patients with Blau Syndrome.

NOD2 Expression in Intestinal Epithelial Cells Protects Toward the Development of Inflammation and Associated Carcinogenesis.

A Case of Sporadic Blau Syndrome with an Uncommon Clinical Course.

Familial Blau syndrome:First molecularly confirmed report from India.

Autoinflammatory Disease-Associated Vasculitis/Vasculopathy.

S100A12 and vascular endothelial growth factor can differentiate Blau syndrome and familial Mediterranean fever from systemic juvenile idiopathic arthritis.

Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab.

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis.

Periodic fever syndromes.

Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype.

S100A12 and S100A8/9 proteins are biomarkers of articular disease activity in Blau syndrome.

Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab.

Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1.

The Challenge of Blau Syndrome.

Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center.

Widespread papular eruption in an infant.

PERIVASCULAR GRANULOMATA IN THE RETINA DEMONSTRATED BY EN FACE OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH BLAU SYNDROME.

The different roles of innate immune receptors in inflammation and carcinogenesis between races.

Blau syndrome with good Reponses to Tocilizumab: A case report and focused literature review.

A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome.

Identification of a novel missense mutation in the NOD2 gene in a Chinese child with early-onset sarcoidosis.

Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series.

A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function.

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

Oral Macrolides for the Dermatologic Manifestations of Blau Syndrome.

Two Chinese pedigrees of Blau syndrome with thirteen affected members.

Gene mutations and clinical phenotypes in Chinese children with Blau syndrome.

The challenge and promise of rare disease diagnosis in China.

Tumor Necrosis Factor Inhibitors Provide Longterm Clinical Benefits in Pediatric and Young Adult Patients with Blau Syndrome.

Pluripotent stem cell models of Blau syndrome reveal an IFN-γ-dependent inflammatory response in macrophages.

INTERMEDIATE UVEITIS ASSOCIATED WITH PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, AND CERVICAL ADENITIS SYNDROME.

Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome.

Nod2: The intestinal gate keeper.

Early diagnosis of early-onset sarcoidosis: a case report with functional analysis and review of the literature.

Monogenic Auto-inflammatory Syndromes: A Review of the Literature.

Granulomatous & histiocytic dermatitides.

The emerging role of interleukin (IL)-1 in the pathogenesis and treatment of inflammatory and degenerative eye diseases.

A familial case of Blau syndrome caused by a novel NOD2 genetic mutation.

Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity.

Casting the critical regions in nucleotide binding oligomerization domain 2 protein: a signature mediated structural dynamics approach.

Vasculitis in the autoinflammatory diseases.

A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome.

A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis.

Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis.

A Case of Blau Syndrome with NOD2 E383K Mutation.

Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant.

Early-onset sarcoidosis and juvenile idiopathic arthritis:A diagnostic dilemma.

Crystal structure of NOD2 and its implications in human disease.

NOD2 genetic variants and sarcoidosis-associated uveitis.

Primary immunodeficiencies associated with eosinophilia.

Intractable leg ulcers in Blau syndrome.