Research & Literature

Childhood sarcoidosis: Louisiana experience.

Gedalia A, Khan TA, Shetty AK, et al.

Clinical rheumatology 2016; (35(7)):1879-84 doi:10.1007/s10067-015-2870-9.

Successful treatment with adalimumab for severe multifocal choroiditis and panuveitis in presumed (early-onset) ocular sarcoidosis.

Achille M, Ilaria P, Teresa G, et al.

International ophthalmology 2016; (36(1)):129-135 doi:10.1007/s10792-015-0135-x.

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.

Mensa-Vilaro A, Cham WT, Tang SP, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2016; (68(4)):1039-44 doi:10.1002/art.39519.

Crystal structure of NOD2 and its implications in human disease.

Maekawa S, Ohto U, Shibata T, et al.

Nature communications 2016; (7()):11813 doi:10.1038/ncomms11813.

A Case of Blau Syndrome with NOD2 E383K Mutation.

Harada J, Nakajima T, Kanazawa N

Pediatric dermatology 2016; (33(6)):e385-e387 doi:10.1111/pde.12908.

Coexistence of early onset sarcoidosis and partial interferon-γ receptor 1 deficiency.

Çakan M, Keskindemirci G, Aydoğmuş Ç, et al.

The Turkish journal of pediatrics 2016; (58(5)):545-549.

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

Sarens IL, Casteels I, Anton J, et al.

American journal of ophthalmology 2018; (187()):158-166 doi:10.1016/j.ajo.2017.08.017.

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

Lu L, Shen M, Jiang D, et al.

Seminars in arthritis and rheumatism 2018; (47(5)):727-731 doi:10.1016/j.semarthrit.2017.09.010.

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

Wang L, Rosé CD, Foley KP, et al.

Rheumatology (Oxford, England) 2018; (57(7)):1299-1304 doi:10.1093/rheumatology/key090.

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

Naik AU, Annamalai R, Biswas J

Indian journal of ophthalmology 2018; (66(10)):1483-1485 doi:10.4103/ijo.IJO_629_18.

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa.

Neves JF, Doffinger R, Barcena-Morales G, et al.

Frontiers in immunology 2018; (9()):2863 doi:10.3389/fimmu.2018.02863.

Ocular Features in Chinese Patients with Blau Syndrome.

Wu S, Zhong L, Sun Z, et al.

Ocular immunology and inflammation 2020; (28(1)):79-85 doi:10.1080/09273948.2019.1569239.

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

DeSouza PJ, Shah R

American journal of ophthalmology case reports 2019; (14()):92-94 doi:10.1016/j.ajoc.2019.03.006.

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.

Boyadzhiev M, Marinov L, Boyadzhiev V, et al.

Pediatric rheumatology online journal 2019; (17(1)):19 doi:10.1186/s12969-019-0322-9.

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

Poline J, Fogel O, Pajot C, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2020; (34(2)):340-348 doi:10.1111/jdv.15963.

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

Leong KF, Sato R, Oh GGK, et al.

Indian journal of dermatology 2019; (64(5)):400-403 doi:10.4103/ijd.IJD_44_18.

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

Velickovic J, Silan F, Bir FD, et al.

Autoimmunity 2019; (52(7-8)):256-263 doi:10.1080/08916934.2019.1671375.

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

Chen J, Luo Y, Zhao M, et al.

Arthritis research & therapy 2019; (21(1)):236 doi:10.1186/s13075-019-2017-5.

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

Chiu B, Chan J, Das S, et al.

Diagnostics (Basel, Switzerland) 2019; (9(4)) doi:10.3390/diagnostics9040160.

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

Zheng S, Lee PY, Huang Y, et al.

Frontiers in pediatrics 2019; (7()):480 doi:10.3389/fped.2019.00480.

The expanding pathways of autoinflammation: a lesson from the first 100 genes related to autoinflammatory manifestations.

Papa R, Picco P, Gattorno M

Advances in protein chemistry and structural biology 2020; (120()):1-44 doi:10.1016/bs.apcsb.2019.11.001.

Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosis.

Takada S, Saito MK, Kambe N

Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia 2020; (155(5)):537-541 doi:10.23736/S0392-0488.19.06524-6.

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

PaÇ Kisaarslan A, SÖzerİ B, Şahİn N, et al.

Archives of rheumatology 2020; (35(1)):117-127 doi:10.5606/ArchRheumatol.2020.7060.

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

Matsuda T, Kambe N, Ueki Y, et al.

Annals of the rheumatic diseases 2020; (79(11)):1492-1499 doi:10.1136/annrheumdis-2020-217320.

Ocular manifestations of Blau syndrome.

Suresh S, Tsui E

Current opinion in ophthalmology 2020; (31(6)):532-537 doi:10.1097/ICU.0000000000000705.

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

Papatesta EM, Kossiva L, Tsolia M, Maritsi D

Cureus 2020; (12(10)):e11208 doi:10.7759/cureus.11208.

Distinguishing Blau Syndrome from Systemic Sarcoidosis.

Kaufman KP, Becker ML

Current allergy and asthma reports 2021; (21(2)):10 doi:10.1007/s11882-021-00991-3.

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

Okazaki F, Wakiguchi H, Korenaga Y, et al.

Pediatric rheumatology online journal 2021; (19(1)):18 doi:10.1186/s12969-021-00505-5.

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

Nishiyama M, Li HJ, Okafuji I, et al.

Children (Basel, Switzerland) 2021; (8(5)) doi:10.3390/children8050335.

A Novel Mutation in the NBD Domain of NLRC4 Causes Mild Autoinflammation With Recurrent Urticaria.

Wang L, Wen W, Deng M, et al.

Frontiers in immunology 2021; (12()):674808 doi:10.3389/fimmu.2021.674808.

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

Zhang S, Cai Z, Mo X, Zeng H

Pediatric rheumatology online journal 2021; (19(1)):160 doi:10.1186/s12969-021-00634-x.

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

Zhong Z, Ding J, Su G, et al.

Ophthalmology 2022; (129(7)):821-828 doi:10.1016/j.ophtha.2022.03.014.

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

Álvarez-Reguera C, Prieto-Peña D, Herrero-Morant A, et al.

Therapeutic advances in musculoskeletal disease 2022; (14()):1759720X221093211 doi:10.1177/1759720X221093211.

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

Matsuda T, Kambe N, Takimoto-Ito R, et al.

Frontiers in immunology 2022; (13()):895765 doi:10.3389/fimmu.2022.895765.

Monogenic disorders as mimics of juvenile idiopathic arthritis.

Furness L, Riley P, Wright N, et al.

Pediatric rheumatology online journal 2022; (20(1)):44 doi:10.1186/s12969-022-00700-y.

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

Kumrah R, Pilania RK, Menia NK, et al.

Frontiers in immunology 2022; (13()):932919 doi:10.3389/fimmu.2022.932919.

Early-onset recurrent panniculitis as a phenotype of NLRC4-associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant.

Gil-Lianes J, Gariup G, Iranzo-Fernández P, et al.

The Australasian journal of dermatology 2023; (64(2)):260-267 doi:10.1111/ajd.14005.

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

Zeng Q, Liu H, Li G, et al.

Pediatric rheumatology online journal 2023; (21(1)):23 doi:10.1186/s12969-023-00804-z.

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

Lassoued Ferjani H, Kharrat L, Ben Nessib D, et al.

European journal of pediatrics 2024; (183(1)):1-7 doi:10.1007/s00431-023-05204-9.

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

Jensen ME, Harrell K, McBride JD

Frontiers in immunology 2023; (14()):1279329 doi:10.3389/fimmu.2023.1279329.

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

Zhong Z, Dai L, Ding J, et al.

Rheumatology (Oxford, England) 2024; (63(SI2)):SI260-SI268 doi:10.1093/rheumatology/kead596.

Sarcoid Uveitis in Children.

Smith JR, Mochizuki M

Ocular immunology and inflammation 2023; (31(10)):1965-1970 doi:10.1080/09273948.2023.2282609.

Imaging Features of Pediatric Sarcoidosis.

Ozer G, Ozcan HN, Gocmen R, et al.

Radiographics : a review publication of the Radiological Society of North America, Inc 2024; (44(1)):e230098 doi:10.1148/rg.230098.

Long-Term Visual Outcome of Patients with Blau Syndrome.

Kreps EO, Al Julandani D, Guly CM, et al.

Ocular immunology and inflammation 2024; (32(8)):1728-1732 doi:10.1080/09273948.2023.2293922.

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

Saigal K, Maleki A

Case reports in ophthalmology 2024; (15(1)):63-70 doi:10.1159/000535984.

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

Zhong L, Wang W, Tang X, et al.

Clinical rheumatology 2024; (43(3)):1171-1181 doi:10.1007/s10067-024-06876-w.

Blau Syndrome With Delayed Cutaneous Manifestations: A Case Report.

Panah E, Garfield E, Zahirsha Z, et al.

The American Journal of dermatopathology 2024; (46(6)):381-382 doi:10.1097/DAD.0000000000002715.

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

Brichova M, Klimova A, Heissigerova J, et al.

Genes 2024; (15(6)) doi:10.3390/genes15060799.

Granulomatous Tubulointerstitial Nephritis in a Kidney Allograft: Treatment with Interleukin-6 Receptor Antagonist Stabilises Kidney Function.

Doctor GT, Dudreuilh C, Perera R, Dorling A

Journal of clinical medicine 2024; (13(12)) doi:10.3390/jcm13123427.

[Monogenic autoinflammatory uveitis].

Lequain H, Kodjikian L, Meunier I, et al.

La Revue de medecine interne 2025; (46(6)):341-347 doi:10.1016/j.revmed.2025.03.001.

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

Maccora I, Wouters C, Rosè CD, et al.

Journal of autoimmunity 2025; (153()):103401 doi:10.1016/j.jaut.2025.103401.

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

Hu Y, Li P, Liu J, et al.

The Journal of rheumatology 2025; (52(8)):810-816 doi:10.3899/jrheum.2024-0822.

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

Shi X, Deng J, Zhang J, et al.

BMC pediatrics 2025; (25(1)):374 doi:10.1186/s12887-025-05584-x.

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

Wang OJE, Jacob M, Crawford RI, Lam JM

Pediatric dermatology 2025; (42(4)):728-734 doi:10.1111/pde.16001.

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

Nagy ZÁ, Bátor G, Vadvári Á, et al.

Orvosi hetilap 2025; (166(16)):623-630 doi:10.1556/650.2025.33281.

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

Mohandesi NA, Mittal S, Orandi AB, et al.

Pediatric dermatology 2025; (42(5)):956-960 doi:10.1111/pde.15994.

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

Pastore S, Carraro C, De Martino E, et al.

Frontiers in pediatrics 2025; (13()):1662832 doi:10.3389/fped.2025.1662832.

A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.

Wolfgramm S, Alehashemi S, Wendlandt M, et al.

Annals of the rheumatic diseases 2026; (85(4)):715-729 doi:10.1016/j.ard.2025.10.021.

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

Han X, Jin Y, Liu C, et al.

BMC pediatrics 2026; (26(1)):87 doi:10.1186/s12887-025-05987-w.

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

Wang Y, Yu XJ, Zhang Z

Frontiers in immunology 2025; (16()):1665949 doi:10.3389/fimmu.2025.1665949.

Familial Granulomatous Uveitis with Arthritis Suggestive of Blau Syndrome: A Multigenerational Case Series from India.

Jain P, Agrrawal V, Singla S, et al.

Ocular immunology and inflammation 2026; (34(4)):875-878 doi:10.1080/09273948.2026.2651789.

A Pediatric Case of Blau Syndrome with NOD2 p.Arg587Cys Mutation Successfully Managed with Infliximab: A Long-Term Follow-Up Study.

Sakono T, Mizuki Y, Takebayashi K, et al.

Ocular immunology and inflammation 2026; (34(6)):1371-1376 doi:10.1080/09273948.2026.2689371.

Ocular Involvement in Childhood-Onset Sarcoidosis: A Case Series.

Rees A, Noor M, Olatunji P, et al.

Ocular immunology and inflammation 2026; (34(7)):1561-1565 doi:10.1080/09273948.2026.2696523.

Uveitis despite adalimumab therapy in Blau syndrome.

Takasaki T, Watanabe M, Kawahara Y, Kaburaki T

BMJ case reports 2026; (19(10)) doi:10.1136/bcr-2026-275641.