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Blau Syndrome

Blau Syndrome (Mendelian) — Comprehensive Disease Characteristics Report

2026-04-22
Falcon MONDO:0008523 Model: Edison Scientific Literature 32 citations

Blau Syndrome (Mendelian) — Comprehensive Disease Characteristics Report

Target disease: Blau syndrome (familial juvenile systemic granulomatosis; sporadic counterpart often termed early-onset sarcoidosis). (brichova2024blausyndromechallenging pages 1-2, shi2025longtermprognosisof pages 1-2)

Evidence base note: The synthesis below is derived from aggregated disease-level publications (case series/cohorts, mechanistic studies, and ClinicalTrials.gov records), not from EHR-only sources. (brichova2024blausyndromechallenging pages 1-2, shi2025longtermprognosisof pages 1-2, NCT06660329 chunk 1)

1. Disease Information

1.1 Overview (current understanding)

Blau syndrome is a rare, typically pediatric-onset, systemic autoinflammatory granulomatous disorder classically defined by the triad of granulomatous dermatitis, symmetric arthritis/tenosynovitis, and recurrent uveitis. (brichova2024blausyndromechallenging pages 1-2, shi2025longtermprognosisof pages 1-2)

1.2 Key identifiers (best available from retrieved sources)

1.3 Synonyms / alternative names

2. Etiology

2.1 Disease causal factors

Primary cause: heterozygous variants in NOD2, producing a dominantly inherited autoinflammatory granulomatous disorder. (brichova2024blausyndromechallenging pages 1-2, shi2025longtermprognosisof pages 1-2)

Key concept (mechanistic genotype class): Blau-associated NOD2 variants behave as gain-of-function with constitutive pro-inflammatory signaling (see §6). (matsuda2022potentialbenefitsof pages 1-2, ueki2023tofacitinibasuppressor pages 1-2)

2.2 Risk factors

  • Genetic risk factor (causal): pathogenic NOD2 variants—especially in the exon 4 hotspot (see §4). (brichova2024blausyndromechallenging pages 2-4)
  • Environmental risk factors: No consistent environmental exposures are established as causal in the retrieved sources; however, immune priming signals (e.g., IFN-γ–driven pathways) are mechanistically implicated as triggers/accelerants (see §6). (ueki2023tofacitinibasuppressor pages 1-2)

2.3 Protective factors

No protective genetic or environmental factors were identified in the retrieved sources.

2.4 Gene–environment interactions

Direct gene–environment interaction evidence is limited. Mechanistic work supports a model in which inflammatory cytokine milieus (notably IFN-γ) upregulate NOD2 expression and exacerbate inflammatory outputs specifically in mutant-NOD2 cells. (ueki2023tofacitinibasuppressor pages 1-2, ueki2023tofacitinibasuppressor pages 3-5)

3. Phenotypes (clinical features)

3.1 Core phenotypes and frequencies (recent cohort statistics)

The largest quantitative phenotype set in the retrieved evidence is a 47-patient pediatric cohort from a Chinese tertiary center (publication date May 2025). Key baseline frequencies: * Arthritis: 93.6% (44/47). (shi2025longtermprognosisof pages 1-2) * Rash/dermatitis: 72.3% (34/47). (shi2025longtermprognosisof pages 1-2) * Uveitis: 31.9%. (shi2025longtermprognosisof pages 1-2) * Fever: 34%. (shi2025longtermprognosisof pages 1-2) * Classic triad present: ~30%. (shi2025longtermprognosisof pages 1-2) * Vasculitis: 27.7%; interstitial lung disease: 17.0%; hypertension: 8.5%; cardiac enlargement: 6.4%; deafness: 6.4%; microscopic hematuria: 4.3%. (shi2025longtermprognosisof pages 1-2)

In this cohort, arthritis commonly involved ankles (90.9%), wrists (72.3%), and knees (70.2%) among those with arthritis. (shi2025longtermprognosisof pages 2-4)

A separate 13-patient Chinese cohort (10-year experience; publication date Feb 2026) reported: arthritis 100% (13/13), ocular involvement 92.3% (12/13), joint deformity 76.9% (10/13), and full triad 69.2% (9/13). (zhang2026clinicalfeaturestreatment pages 1-2)

3.2 Age of onset and course

Blau syndrome is typically early childhood-onset. In the 47-patient cohort, median onset was 13.64 months (range 1–51 months). (shi2025longtermprognosisof pages 1-2)

Progression can be organ-specific: skin manifestations may resolve in some individuals, while joint and eye disease can be progressive and lead to severe complications such as joint contracture and blindness (review-level statement). (matsuda2022potentialbenefitsof pages 1-2)

3.3 Quality-of-life impact

Visual morbidity is a major driver of disability: in a 2024 clinical genetics review/case series, >25% of patients were reported to suffer moderate-to-severe visual loss, although 10–20% may lack ocular involvement (review-level summary). (brichova2024blausyndromechallenging pages 1-2)

3.4 Suggested HPO terms (non-exhaustive)

(Provided as ontology suggestions for knowledge-base annotation) * Arthritis: HP:0001369 * Tenosynovitis / synovitis: HP:0100769 (synovitis) * Uveitis: HP:0000554 * Panuveitis: HP:0012113 * Granulomatous dermatitis: HP:0100710 (dermatitis) + modifier “granulomatous” (not always explicitly represented) * Rash: HP:0000988 * Fever: HP:0001945 * Interstitial lung disease: HP:0006530 * Vasculitis: HP:0002633 * Camptodactyly (commonly described in Blau): HP:0012385 (reported as ~60% in a recent review/case-series summary). (brichova2024blausyndromechallenging pages 1-2) * Hypertension: HP:0000822 * Hearing impairment: HP:0000365 * Hematuria: HP:0000790

4. Genetic / Molecular Information

4.1 Causal gene

NOD2 is the causal gene for Blau syndrome (dominant autoinflammatory granulomatous disease). (brichova2024blausyndromechallenging pages 1-2, shi2025longtermprognosisof pages 1-2)

4.2 Pathogenic variants and hotspots

A key practical point for molecular diagnosis is the NOD2 exon 4 hotspot, where the most recurrent Blau mutations occur. (brichova2024blausyndromechallenging pages 2-4)

Frequently cited pathogenic variants include: * NOD2 c.1001G>A p.(Arg334Gln) [R334Q] (brichova2024blausyndromechallenging pages 1-2) * NOD2 c.1000C>T p.(Arg334Trp) [R334W] (brichova2024blausyndromechallenging pages 1-2)

In the 47-patient Chinese cohort, 12 distinct NOD2 variants were identified; the authors report genotype–phenotype associations including that R334Q was associated with arthritis, rash, uveitis and fever, whereas R334W was associated with arthritis, rash and fever. (shi2025longtermprognosisof pages 1-2)

A 2024 case series emphasized that the pathogenicity interpretation of novel or VUS findings can be challenging, highlighting examples such as a novel NOD2 variant absent in gnomAD and an additional NLRC4 truncating VUS that likely did not explain the phenotype. (brichova2024blausyndromechallenging pages 6-8)

4.3 Variant classification and interpretation challenges

A 2024 diagnostic genetics case series used ACMG/AMP frameworks and highlighted difficulties in assigning causality when variants of uncertain significance (VUS) or dual diagnoses confound classic clinical interpretation. (brichova2024blausyndromechallenging pages 2-4, brichova2024blausyndromechallenging pages 8-10)

4.4 Functional consequences (current understanding)

Functional studies and reviews in the retrieved evidence emphasize that Blau-associated NOD2 mutations can cause ligand-independent/constitutive NF-κB transcriptional activity, consistent with gain-of-function inflammatory signaling. (matsuda2022potentialbenefitsof pages 1-2, ueki2023tofacitinibasuppressor pages 1-2)

5. Environmental Information

No reproducible external environmental/toxic/lifestyle risk factors were identified in the retrieved evidence set. The disease biology is primarily driven by Mendelian NOD2 variation, though immune stimuli (e.g., IFN-γ signaling) likely influence disease activity (see §6). (ueki2023tofacitinibasuppressor pages 1-2)

6. Mechanism / Pathophysiology

6.1 Upstream-to-downstream causal chain (evidence-supported)

  1. Triggering context / priming: IFN-γ signaling increases NOD2 expression in myeloid cells; this appears to be an important “priming” step in cellular models of Blau syndrome. (matsuda2022potentialbenefitsof pages 4-6, ueki2023tofacitinibasuppressor pages 1-2)
  2. Mutant receptor signaling: Blau-associated mutant NOD2 shows constitutive inflammatory signaling.
  3. Abstract-level quote: Blau-associated NOD2 mutants “spontaneously promoted NF-kB transcription ... even without the addition of MDP” (i.e., ligand-independent). (matsuda2022potentialbenefitsof pages 1-2)
  4. Cytokine amplification and granulomatous inflammation: In ex vivo/iPSC-derived models, inflammatory cytokine dysregulation in macrophages requires IFN-γ stimulation and can be corrected by anti-TNF therapy, implying a TNF-dependent amplification layer relevant to granulomatous pathology. (matsuda2022potentialbenefitsof pages 1-2)

6.2 Key molecular pathways (annotatable)

6.3 Immune cells and tissues (cell ontology suggestions)

Evidence in the retrieved set supports a central role for macrophage-lineage myeloid cells in mechanistic assays (patient iPSC-derived monocytic/macrophage-like cells) and granulomatous inflammation. (ueki2023tofacitinibasuppressor pages 3-5, matsuda2022potentialbenefitsof pages 1-2)

Suggested CL terms (ontology suggestions): * Macrophage: CL:0000235 * Monocyte: CL:0000576 * Neutrophil: CL:0000775 (supported indirectly by tear proteomics neutrophil granule signature in severe ocular disease). (galozzi2024proteomicprofilingof pages 1-2, galozzi2024proteomicprofilingof pages 4-6)

6.4 GO biological process suggestions (ontology suggestions)

  • NF-κB signaling: GO:0043122 (regulation of I-kappaB kinase/NF-kappaB signaling)
  • Response to interferon-gamma: GO:0034341
  • Cytokine-mediated signaling pathway: GO:0019221
  • Granuloma formation: can be proxied by terms related to “inflammatory response” (GO:0006954) and macrophage activation.

6.5 Recent mechanistic developments (2023–2024 priority)

JAK inhibition as upstream control of NOD2 expression: A 2023 mechanistic study tested tofacitinib in mutant-NOD2 contexts and concluded that it suppresses IFN-γ-induced NOD2 expression and downstream cytokines rather than directly shutting off mutant NOD2’s basal NF-κB activity. * Abstract quote: “Tofacitinib did not suppress the increased spontaneous transcriptional activity of NF-kB by mutant NOD2.” (ueki2023tofacitinibasuppressor pages 1-2) * Abstract quote: IFN-γ induction “led to the production of inflammatory cytokines by an autoinflammatory mechanism only in cells with mutant NOD2.” (ueki2023tofacitinibasuppressor pages 1-2)

7. Anatomical Structures Affected

7.1 Organ systems (evidence-supported)

7.2 UBERON term suggestions (ontology suggestions)

8. Temporal Development

8.1 Onset

Clinical manifestations often begin before age 4 (review-level) and can begin in infancy (median 13.64 months in the pediatric cohort). (brichova2024blausyndromechallenging pages 1-2, shi2025longtermprognosisof pages 1-2)

8.2 Progression patterns

The disease course is typically chronic with progressive risk for joint deformity and ocular complications; a 13-patient cohort reported joint deformity in 76.9%. (zhang2026clinicalfeaturestreatment pages 1-2)

9. Inheritance and Population

9.1 Inheritance

Autosomal dominant inheritance is typical; de novo/sporadic cases occur. * In the 47-patient pediatric cohort: familial 17% and sporadic 83%. (shi2025longtermprognosisof pages 2-4)

9.2 Epidemiology

Population prevalence/incidence estimates were not available in the retrieved evidence set (common limitation for ultra-rare Mendelian autoinflammatory diseases).

9.3 Sex ratio and demographics

In the 47-patient cohort, 26/47 were male and 21/47 female. (shi2025longtermprognosisof pages 1-2)

10. Diagnostics

10.1 Clinical criteria and confirmatory testing

Diagnosis is typically based on: 1. Clinical triad (dermatitis + arthritis/tenosynovitis + uveitis), and/or 2. Histopathology demonstrating non-caseating granulomas, and 3. Genetic confirmation of a pathogenic NOD2 variant. (shi2025longtermprognosisof pages 1-2, brichova2024blausyndromechallenging pages 2-4)

10.2 Genetic testing approach (real-world practice)

A practical approach used in a 2024 case series was to perform targeted Sanger sequencing of the NOD2 exon 4 hotspot in probands, supplemented by broader autoinflammatory gene panels and exome sequencing in select cases (e.g., atypical presentations, VUS, or phenocopies). (brichova2024blausyndromechallenging pages 2-4)

10.3 Diagnostic delays and misdiagnosis

Diagnostic delay is substantial: * Pediatric cohort: median diagnosis ~54.9 months with ~41.2 months delay. (shi2025longtermprognosisof pages 2-4) * 2024 case series: delays of 2–23 years (mean 9), with misdiagnosis as atopic dermatitis or juvenile idiopathic arthritis noted. (brichova2024blausyndromechallenging pages 11-13)

10.4 Differential diagnosis (evidence-based examples)

The 2024 diagnostic genetics report highlights challenges distinguishing Blau syndrome from other granulomatous or inflammatory conditions and emphasizes that biopsy and careful genetic interpretation may be required in atypical cases (e.g., neurological features mimicking neurosarcoidosis). (brichova2024blausyndromechallenging pages 2-4, brichova2024blausyndromechallenging pages 1-2)

10.5 Biomarkers and omics-based diagnostics (2024 development)

Tear proteomics (Aug 2024, IJMS) provides a candidate biomarker direction for ocular involvement. * 387 tear proteins identified; differential expression defined using fold-change thresholds and multiple testing correction. (galozzi2024proteomicprofilingof pages 2-4) * Candidate biomarkers upregulated in Blau vs controls include A2M and IGHG4 (e.g., IGHG4 FC ~10; A2M FC ~5–6.7 depending on comparison). (galozzi2024proteomicprofilingof pages 4-6) * In severe ocular disease, neutrophil granule proteins were markedly elevated compared with milder cases (e.g., MPO FC 16.50; AZU1 FC 24.84; DEFA3 FC 9.93). (galozzi2024proteomicprofilingof pages 4-6)

11. Outcome / Prognosis

11.1 Disease control rates under current treatment (cohort statistic)

In the 47-patient cohort, 72.3% achieved disease control at latest follow-up; TNF-α inhibitor-treated patients had higher remission rates (association reported in the cohort). (shi2025longtermprognosisof pages 1-2)

11.2 Major complications

Ocular involvement is a major morbidity driver with risk of vision loss (review-level). (brichova2024blausyndromechallenging pages 1-2)

Mortality and life expectancy statistics were not available in the retrieved evidence set.

12. Treatment

12.1 Current real-world management (cohort-based)

From the 47-patient pediatric cohort (May 2025): * Prednisolone + methotrexate: used in 95.7% (45/47). (shi2025longtermprognosisof pages 1-2) * TNF-α inhibitors: used in 42.6% (20/47). (shi2025longtermprognosisof pages 1-2) * Disease control at follow-up: 72.3% (34/47), with higher remission in TNFi-treated patients. (shi2025longtermprognosisof pages 1-2)

A 13-patient cohort described high TNFi uptake (12/13) with initial complete remissions on infliximab/etanercept/adalimumab in subsets and frequent relapse/secondary loss of efficacy over time (46.2% relapse/secondary loss reported). (zhang2026clinicalfeaturestreatment pages 1-2)

12.2 Mechanism-based therapeutic rationale (authoritative review)

A mechanistic review concluded that although multiple therapies (IL-1, IL-6, JAK inhibitors) have been reported, anti-TNF therapy plays a central role. (matsuda2022potentialbenefitsof pages 1-2)

Ex vivo mechanistic support: * “abnormal cytokine expression in macrophages … requires IFNg stimulation,” and “anti-TNF treatment corrects the abnormalities … even in the presence of IFNg.” (matsuda2022potentialbenefitsof pages 1-2)

12.3 Recent developments (2023–2024 priority)

JAK inhibitors / tofacitinib mechanistic study (Jun 2023): supports upstream blockade of IFN-γ-induced NOD2 expression and cytokines. * Quote: “Tofacitinib did not suppress the increased spontaneous transcriptional activity of NF-kB by mutant NOD2.” (ueki2023tofacitinibasuppressor pages 1-2) * Quote: Tofacitinib suppressed IFN-γ-induced NOD2 induction “thereby inhibiting the production of pro-inflammatory cytokines.” (ueki2023tofacitinibasuppressor pages 1-2)

Biomarker development (Aug 2024): tear proteomics identifies candidate ocular biomarkers and highlights neutrophil granule proteins in severe disease. (galozzi2024proteomicprofilingof pages 4-6)

12.4 Experimental/clinical trials (ClinicalTrials.gov)

  • NCT06660329 (posted 2024; start 2024-10-01): “Efficacy and Safety of Tofacitinib in Refractory Blau Syndrome,” Phase 4, open-label single-group, estimated n=30 pediatric participants; primary outcome is remission/low disease activity at 6 months; includes longitudinal inflammatory markers/cytokines including TNFα and IFNγ. URL: https://clinicaltrials.gov/study/NCT06660329 (NCT06660329 chunk 1)
  • NCT06688838 (posted 2024-11-14): retrospective cohort comparing glucocorticoid+DMARDs vs +TNFi vs +tofacitinib, estimated n=24. URL: https://clinicaltrials.gov/study/NCT06688838 (NCT06688838 chunk 1)

12.5 MAXO term suggestions (ontology suggestions)

  • Systemic glucocorticoid therapy
  • Methotrexate therapy
  • Tumor necrosis factor inhibitor therapy
  • Janus kinase inhibitor therapy
  • Interleukin-1 inhibitor therapy
  • Interleukin-6 receptor inhibitor therapy
  • Ophthalmologic monitoring and uveitis-directed therapy

13. Prevention

Because Blau syndrome is a Mendelian dominant disorder, prevention focuses on genetic counseling and cascade testing in families with known pathogenic NOD2 variants; no primary prevention strategies are established in the retrieved evidence set. (brichova2024blausyndromechallenging pages 2-4)

14. Other Species / Natural Disease

No naturally occurring non-human Blau syndrome analogs were identified in the retrieved evidence set.

15. Model Organisms / Experimental Models

15.1 Human cell models (strongest evidence in retrieved set)

A 2023 mechanistic study used patient-derived induced pluripotent stem cell (iPSC)–derived monocytic/myeloid cells to test IFN-γ induction of NOD2 and cytokine production and to examine tofacitinib effects. (ueki2023tofacitinibasuppressor pages 3-5, ueki2023tofacitinibasuppressor pages 1-2)

15.2 Suggested model utility

Such iPSC-derived myeloid models are useful for: * probing IFN-γ–priming of mutant-NOD2 inflammatory outputs; * testing JAK inhibition as a strategy to block cytokine-driven induction of NOD2 expression. (ueki2023tofacitinibasuppressor pages 3-5, ueki2023tofacitinibasuppressor pages 1-2)

Key visual evidence

The 2024 Genes case series includes a family-variant figure and a clinical feature table useful for knowledge-base validation and phenotype capture. (brichova2024blausyndromechallenging media 5971238a, brichova2024blausyndromechallenging media 2378c737)

Structured summary table

Table (click to expand)
Domain Key points (with quantitative data where available) Best recent source (first author year) URL
Definition / triad Rare pediatric autoinflammatory granulomatous disease defined by the classic triad of granulomatous dermatitis, symmetric arthritis/tenosynovitis, and recurrent uveitis; early-onset sarcoidosis is generally considered the sporadic counterpart (brichova2024blausyndromechallenging pages 1-2, shi2025longtermprognosisof pages 1-2) Brichova 2024 https://doi.org/10.3390/genes15060799
Inheritance Usually autosomal dominant due to heterozygous gain-of-function NOD2 variants; Chinese pediatric cohort: 17% familial and 83% sporadic/de novo among 47 cases (brichova2024blausyndromechallenging pages 1-2, shi2025longtermprognosisof pages 2-4) Brichova 2024 https://doi.org/10.3390/genes15060799
Onset age Clinical manifestations typically begin before age 3–4 years; Chinese cohort median onset 13.64 months (range 1–51 months) (brichova2024blausyndromechallenging pages 1-2, shi2025longtermprognosisof pages 1-2) Shi 2025 https://doi.org/10.1186/s12887-025-05584-x
Key phenotype frequencies (Shi cohort, n=47) Arthritis 93.6% (44/47); rash/dermatitis 72.3% (34/47); fever 34%; uveitis 31.9%; full triad in ~30%; vasculitis 27.7%; interstitial lung disease 17.0%; hypertension 8.5%; cardiac enlargement 6.4%; deafness 6.4%; microscopic hematuria 4.3% (shi2025longtermprognosisof pages 1-2, shi2025longtermprognosisof pages 2-4) Shi 2025 https://doi.org/10.1186/s12887-025-05584-x
Diagnostic delay Chinese cohort: median diagnosis age 54.9 months with median diagnostic delay ~41.2 months; 2024 Czech series reports delays of 2–23 years (mean 9 years), underscoring frequent under-recognition/misdiagnosis (shi2025longtermprognosisof pages 2-4, brichova2024blausyndromechallenging pages 11-13) Shi 2025 https://doi.org/10.1186/s12887-025-05584-x
Causal gene / hotspot variants Causal gene: NOD2 (CARD15). Exon 4 is a mutational hotspot; p.Arg334Gln (R334Q) and p.Arg334Trp (R334W) are the best-known recurrent pathogenic variants. In the Chinese cohort, R334Q correlated with arthritis, rash, uveitis, fever; R334W with arthritis, rash, fever (brichova2024blausyndromechallenging pages 2-4, shi2025longtermprognosisof pages 1-2) Brichova 2024 https://doi.org/10.3390/genes15060799
Mechanism Core mechanism: Blau-associated NOD2 mutants show constitutive/ligand-independent NF-κB activation; IFN-γ acts as a priming signal by upregulating NOD2 in patient macrophage models; anti-TNF can correct IFN-γ-associated cytokine abnormalities ex vivo, supporting TNF dependence in downstream inflammation/granuloma biology (matsuda2022potentialbenefitsof pages 1-2, matsuda2022potentialbenefitsof pages 4-6, ueki2023tofacitinibasuppressor pages 1-2) Ueki 2023 https://doi.org/10.3389/fimmu.2023.1211240
Treatment outcomes In the 47-patient Chinese cohort, 95.7% (45/47) received prednisolone + methotrexate and 42.6% (20/47) received TNF inhibitors; 72.3% (34/47) achieved disease control at last follow-up, with higher remission rates in TNFi-treated patients (shi2025longtermprognosisof pages 1-2) Shi 2025 https://doi.org/10.1186/s12887-025-05584-x
JAK inhibitor rationale Tofacitinib did not suppress mutant-NOD2-driven basal NF-κB directly, but it suppressed IFN-γ-induced NOD2 expression and reduced downstream pro-inflammatory cytokine production in Blau iPSC-derived myeloid cells; this provides an upstream mechanistic rationale for JAK inhibition in refractory disease (ueki2023tofacitinibasuppressor pages 1-2, ueki2023tofacitinibasuppressor pages 3-5) Ueki 2023 https://doi.org/10.3389/fimmu.2023.1211240
Tear proteomics / biomarkers 2024 tear proteomics identified 387 proteins. In affected p.E383K carriers, A2M and IGHG4 were highlighted as candidate biomarkers; quantitative examples include A2M FC 5.03 (vs unaffected family) and 6.75 (vs controls), IGHG4 FC ~10.17 and ~10.28, haptoglobin FC 5.71, SERPINA3 FC 5.71. In the most severe ocular case, neutrophil-granule proteins were elevated, including MPO FC 16.50, AZU1 FC 24.84, DEFA3 FC 9.93 (galozzi2024proteomicprofilingof pages 1-2, galozzi2024proteomicprofilingof pages 2-4, galozzi2024proteomicprofilingof pages 4-6, galozzi2024proteomicprofilingof pages 12-14) Galozzi 2024 https://doi.org/10.3390/ijms25158387

Table: This table condenses the most actionable facts for Blau syndrome across definition, genetics, mechanism, phenotype frequencies, and treatment response. It emphasizes recent cohort and mechanistic studies that are useful for rapid knowledge-base population.

Limitations of this report (evidence availability)

  • Prevalence/incidence estimates and mortality/life expectancy were not available in the retrieved documents.
  • MONDO/Orphanet/ICD/MeSH identifiers were not retrievable from the current evidence set and should be added via dedicated ontology lookups.
  • PMIDs were not provided in the extracted tool context for these papers; DOI and publication dates are provided where available in-source.

References

  1. (brichova2024blausyndromechallenging pages 1-2): Michaela Brichova, Aneta Klimova, Jarmila Heissigerova, Petra Svozilkova, Manuela Vaneckova, Pavla Dolezalova, Dana Nemcova, Marcela Michalickova, Jana Jedlickova, Lubica Dudakova, and Petra Liskova. Blau syndrome: challenging molecular genetic diagnostics of autoinflammatory disease. Genes, 15:799, Jun 2024. URL: https://doi.org/10.3390/genes15060799, doi:10.3390/genes15060799. This article has 4 citations.

  2. (shi2025longtermprognosisof pages 1-2): Xinwei Shi, Jianghong Deng, Junmei Zhang, Xiaozhen Zhao, Yinan Zhao, Li Li, Fengqiao Gao, Weiying Kuang, Jiang Wang, Xiaohua Tan, Chao Li, Shipeng Li, and Caifeng Li. Long-term prognosis of 47 pediatric patients with blau syndrome in china. BMC Pediatrics, May 2025. URL: https://doi.org/10.1186/s12887-025-05584-x, doi:10.1186/s12887-025-05584-x. This article has 2 citations and is from a peer-reviewed journal.

  3. (NCT06660329 chunk 1): Hongmei Song. Efficacy and Safety of Tofacitinib in Refractory Blau Syndrome. Peking Union Medical College Hospital. 2024. ClinicalTrials.gov Identifier: NCT06660329

  4. (zhang2026clinicalfeaturestreatment pages 9-10): Jingyuan Zhang and Min Shen. Clinical features, treatment strategies, and long-term outcomes of blau syndrome: a 10-year experience from a chinese cohort. Advances in Rheumatology, Feb 2026. URL: https://doi.org/10.1186/s42358-026-00528-0, doi:10.1186/s42358-026-00528-0. This article has 0 citations.

  5. (brichova2024blausyndromechallenging pages 11-13): Michaela Brichova, Aneta Klimova, Jarmila Heissigerova, Petra Svozilkova, Manuela Vaneckova, Pavla Dolezalova, Dana Nemcova, Marcela Michalickova, Jana Jedlickova, Lubica Dudakova, and Petra Liskova. Blau syndrome: challenging molecular genetic diagnostics of autoinflammatory disease. Genes, 15:799, Jun 2024. URL: https://doi.org/10.3390/genes15060799, doi:10.3390/genes15060799. This article has 4 citations.

  6. (matsuda2022potentialbenefitsof pages 1-2): Tomoko Matsuda, Naotomo Kambe, Riko Takimoto-Ito, Yoko Ueki, Satoshi Nakamizo, Megumu K. Saito, Syuji Takei, and Nobuo Kanazawa. Potential benefits of tnf targeting therapy in blau syndrome, a nod2-associated systemic autoinflammatory granulomatosis. Frontiers in Immunology, May 2022. URL: https://doi.org/10.3389/fimmu.2022.895765, doi:10.3389/fimmu.2022.895765. This article has 27 citations and is from a peer-reviewed journal.

  7. (ueki2023tofacitinibasuppressor pages 1-2): Yoko Ueki, Riko Takimoto-Ito, Megumu K. Saito, Hideaki Tanizaki, and Naotomo Kambe. Tofacitinib, a suppressor of nod2 expression, is a potential treatment for blau syndrome. Frontiers in Immunology, Jun 2023. URL: https://doi.org/10.3389/fimmu.2023.1211240, doi:10.3389/fimmu.2023.1211240. This article has 16 citations and is from a peer-reviewed journal.

  8. (brichova2024blausyndromechallenging pages 2-4): Michaela Brichova, Aneta Klimova, Jarmila Heissigerova, Petra Svozilkova, Manuela Vaneckova, Pavla Dolezalova, Dana Nemcova, Marcela Michalickova, Jana Jedlickova, Lubica Dudakova, and Petra Liskova. Blau syndrome: challenging molecular genetic diagnostics of autoinflammatory disease. Genes, 15:799, Jun 2024. URL: https://doi.org/10.3390/genes15060799, doi:10.3390/genes15060799. This article has 4 citations.

  9. (ueki2023tofacitinibasuppressor pages 3-5): Yoko Ueki, Riko Takimoto-Ito, Megumu K. Saito, Hideaki Tanizaki, and Naotomo Kambe. Tofacitinib, a suppressor of nod2 expression, is a potential treatment for blau syndrome. Frontiers in Immunology, Jun 2023. URL: https://doi.org/10.3389/fimmu.2023.1211240, doi:10.3389/fimmu.2023.1211240. This article has 16 citations and is from a peer-reviewed journal.

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