Research & Literature

The NAIP-NLRC4 inflammasome in innate immune detection of bacterial flagellin and type III secretion apparatus.

Zhao Y, Shao F

Immunological reviews 2015; (265(1)):85-102 doi:10.1111/imr.12293.

Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites.

Liang J, Alfano DN, Squires JE, et al.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2017; (20(6)):498-505 doi:10.1177/1093526616686890.

NLRC4 inflammasomopathies.

Romberg N, Vogel TP, Canna SW

Current opinion in allergy and clinical immunology 2017; (17(6)):398-404 doi:10.1097/ACI.0000000000000396.

The NLRC4 Inflammasome.

Duncan JA, Canna SW

Immunological reviews 2018; (281(1)):115-123 doi:10.1111/imr.12607.

Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome.

Weiss ES, Girard-Guyonvarc'h C, Holzinger D, et al.

Blood 2018; (131(13)):1442-1455 doi:10.1182/blood-2017-12-820852.

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.

Sanchez GAM, Reinhardt A, Ramsey S, et al.

The Journal of clinical investigation 2018; (128(7)):3041-3052.

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

De Benedetti F, Gattorno M, Anton J, et al.

The New England journal of medicine 2018; (378(20)):1908-1919 doi:10.1056/NEJMoa1706314.

Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)-LRR oligomerization interface.

Moghaddas F, Zeng P, Zhang Y, et al.

The Journal of allergy and clinical immunology 2018; (142(6)):1956-1967.e6 doi:10.1016/j.jaci.2018.04.033.

Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome.

Barsalou J, Blincoe A, Fernandez I, et al.

Frontiers in immunology 2018; (9()):2162 doi:10.3389/fimmu.2018.02162.

Macrophage Activation Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in Childhood Inflammatory Disorders: Diagnosis and Management.

Henderson LA, Cron RQ

Paediatric drugs 2020; (22(1)):29-44 doi:10.1007/s40272-019-00367-1.

Molecular mechanisms activating the NAIP-NLRC4 inflammasome: Implications in infectious disease, autoinflammation, and cancer.

Kay C, Wang R, Kirkby M, Man SM

Immunological reviews 2020; (297(1)):67-82 doi:10.1111/imr.12906.

Human Autoinflammatory Diseases Mediated by NLRP3-, Pyrin-, NLRP1-, and NLRC4-Inflammasome Dysregulation Updates on Diagnosis, Treatment, and the Respective Roles of IL-1 and IL-18.

Alehashemi S, Goldbach-Mansky R

Frontiers in immunology 2020; (11()):1840 doi:10.3389/fimmu.2020.01840.

Exclusive enteral nutrition mediates gut microbial and metabolic changes that are associated with remission in children with Crohn's disease.

Diederen K, Li JV, Donachie GE, et al.

Scientific reports 2020; (10(1)):18879 doi:10.1038/s41598-020-75306-z.

Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood.

Welzel T, Benseler SM, Kuemmerle-Deschner JB

Frontiers in immunology 2021; (12()):516427 doi:10.3389/fimmu.2021.516427.

Consensus-Based Guidelines for the Recognition, Diagnosis, and Management of Hemophagocytic Lymphohistiocytosis in Critically Ill Children and Adults.

Hines MR, von Bahr Greenwood T, Beutel G, et al.

Critical care medicine 2022; (50(5)):860-872 doi:10.1097/CCM.0000000000005361.

Canakinumab improves patient-reported outcomes in children and adults with autoinflammatory recurrent fever syndromes: results from the CLUSTER trial.

Lachmann HJ, Lauwerys B, Miettunen P, et al.

Clinical and experimental rheumatology 2021; (39 Suppl 132(5)):51-58 doi:10.55563/clinexprheumatol/e92f7o.

NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.

Bardet J, Laverdure N, Fusaro M, et al.

Journal of clinical medicine 2021; (10(19)) doi:10.3390/jcm10194369.

First Description of Late-Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.

Ionescu D, Peñín-Franch A, Mensa-Vilaró A, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2022; (74(4)):692-699 doi:10.1002/art.41999.

Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus.

Steiner A, Reygaerts T, Pontillo A, et al.

Journal of clinical immunology 2022; (42(2)):325-335 doi:10.1007/s10875-021-01175-4.

The Role of Interleukin 18/Interleukin 18-Binding Protein in Adult-Onset Still's Disease and Systemic Juvenile Idiopathic Arthritis.

Girard-Guyonvarc'h C, Harel M, Gabay C

Journal of clinical medicine 2022; (11(2)) doi:10.3390/jcm11020430.

Variants in autoinflammatory diseases-related genes in a family with cold-induced autoinflammatory syndrome.

Prados-Castaño M, Montes-Cano MA, Muñoz-Garcia R, et al.

Clinical and experimental rheumatology 2022; (40(8)):1510-1516 doi:10.55563/clinexprheumatol/jbov4v.

Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease.

Wang J, Ye Q, Zheng W, et al.

Annals of the rheumatic diseases 2022; (81(8)):1173-1178 doi:10.1136/annrheumdis-2021-221708.

Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.

Miyazawa H, Wada T

Frontiers in immunology 2022; (13()):930141 doi:10.3389/fimmu.2022.930141.

When to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders.

Sacco KA, Notarangelo LD, Delmonte OM

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2023; (29(4)):457-462 doi:10.1016/j.cmi.2022.10.003.

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.

Li Y, Yu M, Lu M

Pediatric rheumatology online journal 2022; (20(1)):90 doi:10.1186/s12969-022-00728-0.

A Review of Current and Emerging Therapeutic Options for Hemophagocytic Lymphohistiocytosis.

Summerlin J, Wells DA, Anderson MK, Halford Z

The Annals of pharmacotherapy 2023; (57(7)):867-879 doi:10.1177/10600280221134719.

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.

Rare presentation and retrograde diagnosis of total colonic aganglionosis in a female infant: a case report.

Chakhunashvili K, Chakhunashvili DG, Kvirkvelia E, Gozalishvili E

Journal of medical case reports 2023; (17(1)):128 doi:10.1186/s13256-023-03832-1.

The 2022 EULAR/ACR points to consider at the early stages of diagnosis and management of suspected haemophagocytic lymphohistiocytosis/macrophage activation syndrome (HLH/MAS).

Shakoory B, Geerlinks A, Wilejto M, et al.

Annals of the rheumatic diseases 2023; (82(10)):1271-1285 doi:10.1136/ard-2023-224123.

Autoinflammatory Diseases: A Review.

An J, Marwaha A, Laxer RM

The Journal of rheumatology 2024; (51(9)):848-861 doi:10.3899/jrheum.2023-1209.

When parenteral nutrition is the answer: The case of pediatric intestinal rehabilitation.

Kaenkumchorn TK, Lampone O, Huebner K, et al.

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2024; (39(5)):991-1002 doi:10.1002/ncp.11179.

Macrophage Activation Syndrome in Children: Update on Diagnosis and Treatment.

Lee J, Bae KS, Rhim JW, et al.

Children (Basel, Switzerland) 2024; (11(7)) doi:10.3390/children11070755.

[Autoinflammatory diseases associated with IL-18].

Mertz P, Hentgen V, Boursier G, et al.

La Revue de medecine interne 2025; (46(3)):155-163 doi:10.1016/j.revmed.2024.08.003.

Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC).

Asna Ashari K, Parvaneh N, Mirnia K, et al.

Pediatric rheumatology online journal 2024; (22(1)):90 doi:10.1186/s12969-024-01020-z.

Characterization of Patients with Macrophage Activation Syndrome Secondary to Systemic Juvenile Idiopathic Arthritis.

Rogowska J, Kubicka J, Grabowska M, et al.

Clinical rheumatology 2025; (44(5)):2023-2029 doi:10.1007/s10067-025-07420-0.

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity.

Diab F, Louvrier C, Fabre M, et al.

Journal of clinical immunology 2025; (45(1)):111.

Serum Cytokine Profiling Differentiates Underlying Diseases in Cytokine Storm Syndrome.

Kaneko S, Hatano M, Shimbo A, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2026; (78(2)):463-474 doi:10.1002/art.43349.

Influenza vaccine uptake in juvenile idiopathic arthritis during the COVID-19 pandemic: a multi-centre cross-sectional study by PRES vaccination working party.

Maritsi D, Alpert N, Bizjak M, et al.

Pediatric rheumatology online journal 2025; (23(1)):103 doi:10.1186/s12969-025-01158-4.

An animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.

Wang Y, Gao JZ, Gurung P, et al.

Cellular & molecular immunology 2025; (22(12)):1567-1580 doi:10.1038/s41423-025-01355-x.

Transition of serum-free IL-18 levels in systemic juvenile idiopathic arthritis measured by a novel detection method.

Miwa Y, Kawamoto N, Miwa T, et al.

Cytokine 2026; (201()):157128 doi:10.1016/j.cyto.2026.157128.

Decoding variants of uncertain significance in systemic autoinflammatory diseases.

Boursier G, Carbone A, Savic S, Henry T

Nature reviews. Rheumatology 2026; (22(7)):429-446 doi:10.1038/s41584-026-01380-8.

Autoinflammation with infantile enterocolitis induced by a heterozygous variant (c.1357C > T) in the NLRC4 gene: a case report.

Wang X, Xiao Y, Ge T, et al.

Frontiers in pediatrics 2026; (14()):1822554 doi:10.3389/fped.2026.1822554.

The Silent Infection: Cytokine Blockade, Blunted Sepsis Physiology, and Soft Tissue Infection With NLRP12-Associated Autoinflammatory Syndrome.

Izadian Bidgoli A, Gomez Veliz A

Cureus 2026; (18(5)):e109484 doi:10.7759/cureus.109484.

Free IL-18 in NLRC4-associated autoinflammatory disease without macrophage activation syndrome.

Willemsen M, Schoonbrood THM, Rodriguez E, et al.

Rheumatology (Oxford, England) 2026; (65(7)) doi:10.1093/rheumatology/keag363.

Autoinflammation with infantile enterocolitis associated with a novel CARD domain mutation in NLRC4: a case report and literature review.

Mao Y, Xie Y

Frontiers in pediatrics 2026; (14()):1878056 doi:10.3389/fped.2026.1878056.