Research & Literature

The emerging global epidemic of paediatric inflammatory bowel disease--causes and consequences.

Malmborg P, Hildebrand H

Journal of internal medicine 2016; (279(3)):241-58 doi:10.1111/joim.12413.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, et al.

The Journal of clinical investigation 2015; (125(11)):4196-211.

CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.

Cavalcante MP, Brunelli JB, Miranda CC, et al.

European journal of pediatrics 2016; (175(5)):735-40 doi:10.1007/s00431-015-2668-4.

The supportive care needs of parents with a child with a rare disease: results of an online survey.

Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ

BMC family practice 2016; (17()):88 doi:10.1186/s12875-016-0488-x.

Recurrent lipoatrophic panniculitis of children.

Torrelo A, Noguera-Morel L, Hernández-Martín A, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2017; (31(3)):536-543 doi:10.1111/jdv.13858.

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Damgaard RB, Walker JA, Marco-Casanova P, et al.

Cell 2016; (166(5)):1215-1230.e20 doi:10.1016/j.cell.2016.07.019.

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.

Torrelo A

Frontiers in immunology 2017; (8()):927 doi:10.3389/fimmu.2017.00927.

Clues in Histopathological Diagnosis of Panniculitis.

Llamas Velasco M, Pérez-Gónzalez YC, Kempf W, et al.

The American Journal of dermatopathology 2018; (40(3)):155-167 doi:10.1097/DAD.0000000000000985.

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

Baumbusch J, Mayer S, Sloan-Yip I

Journal of genetic counseling 2018; doi:10.1007/s10897-018-0294-9.

New data in causes of autoinflammatory diseases.

Kone-Paut I, Georgin-Laviallec S, Galeotti C, et al.

Joint bone spine 2019; (86(5)):554-561 doi:10.1016/j.jbspin.2018.11.003.

Vasculitis in Systemic Autoinflammatory Diseases.

Demir S, Sag E, Dedeoglu F, Ozen S

Frontiers in pediatrics 2018; (6()):377 doi:10.3389/fped.2018.00377.

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.

OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death.

Damgaard RB, Elliott PR, Swatek KN, et al.

EMBO molecular medicine 2019; (11(3)) doi:10.15252/emmm.201809324.

Expanding the clinical features of autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation by description of a novel patient.

Morán-Villaseñor E, Saez-de-Ocariz M, Torrelo A, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2019; (33(12)):2334-2339 doi:10.1111/jdv.15918.

Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS).

Ebstein F, Poli Harlowe MC, Studencka-Turski M, Krüger E

Frontiers in immunology 2019; (10()):2756 doi:10.3389/fimmu.2019.02756.

Adult height in patients with childhood-onset inflammatory bowel disease: a nationwide population-based cohort study.

Mouratidou N, Malmborg P, Sachs MC, et al.

Alimentary pharmacology & therapeutics 2020; (51(8)):789-800 doi:10.1111/apt.15667.

OTULIN protects the liver against cell death, inflammation, fibrosis, and cancer.

Damgaard RB, Jolin HE, Allison MED, et al.

Cell death and differentiation 2020; (27(5)):1457-1474 doi:10.1038/s41418-020-0532-1.

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Martín-Nalda A, Fortuny C, Rey L, et al.

Journal of clinical immunology 2020; (40(7)):987-1000 doi:10.1007/s10875-020-00794-7.

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.

[Transition from pediatric to adult care: Recommendations of the French network for autoimmune and autoinflammatory diseases (FAI2R)].

Georgin-Lavialle S, Hentgen V, Truchetet ME, et al.

La Revue de medecine interne 2021; (42(9)):633-638 doi:10.1016/j.revmed.2021.02.003.

Evaluation of the parents' anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support.

Kolemen AB, Akyuz E, Toprak A, et al.

Orphanet journal of rare diseases 2021; (16(1)):402 doi:10.1186/s13023-021-02046-2.

OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity.

Hoste E, Lecomte K, Annusver K, et al.

Nature communications 2021; (12(1)):5913 doi:10.1038/s41467-021-25944-2.

OTULIN inhibits RIPK1-mediated keratinocyte necroptosis to prevent skin inflammation in mice.

Schünke H, Göbel U, Dikic I, Pasparakis M

Nature communications 2021; (12(1)):5912 doi:10.1038/s41467-021-25945-1.

Deubiquitination of proteasome subunits by OTULIN regulates type I IFN production.

Tao P, Wang S, Ozen S, et al.

Science advances 2021; (7(47)):eabi6794 doi:10.1126/sciadv.abi6794.

Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS.

Zinngrebe J, Moepps B, Monecke T, et al.

EMBO molecular medicine 2022; (14(3)):e14901 doi:10.15252/emmm.202114901.

Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations.

Gezgin Y, Kırnaz B, Berdeli A

Molecular biology reports 2022; (49(6)):4643-4652 doi:10.1007/s11033-022-07312-5.

The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.

Romano M, Arici ZS, Piskin D, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2022; (74(7)):1102-1121 doi:10.1002/art.42139.

Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery.

Lynch F, Nisselle A, Stark Z, et al.

European journal of human genetics : EJHG 2022; (30(11)):1276-1282 doi:10.1038/s41431-022-01168-w.

Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey.

Israni M, Nicholson B, Mahlaoui N, et al.

Journal of clinical immunology 2023; (43(1)):206-216 doi:10.1007/s10875-022-01345-y.

How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty.

Schiller J, Towne MC, Epstein R, et al.

Journal of genetic counseling 2024; (33(2)):301-313 doi:10.1002/jgc4.1727.

OTULIN protects the intestinal epithelium from apoptosis during inflammation and infection.

Verboom L, Anderson CJ, Jans M, et al.

Cell death & disease 2023; (14(8)):534 doi:10.1038/s41419-023-06058-7.

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).

Papendorf JJ, Ebstein F, Alehashemi S, et al.

Frontiers in immunology 2023; (14()):1190104 doi:10.3389/fimmu.2023.1190104.

Myeloid OTULIN deficiency couples RIPK3-dependent cell death to Nlrp3 inflammasome activation and IL-1β secretion.

Doglio MG, Verboom L, Ruilova Sosoranga E, et al.

Science immunology 2023; (8(89)):eadf4404 doi:10.1126/sciimmunol.adf4404.

Effectiveness of family centred interventions for family caregivers: A systematic review and meta-analysis of randomized controlled trials.

Wang Z, Yu S, Liu Y, et al.

Journal of clinical nursing 2024; (33(5)):1958-1975 doi:10.1111/jocn.17091.

Caregiver burden among parents of children with type 1 diabetes: A qualitative scoping review.

Azimi T, Johnson J, Campbell SM, Montesanti S

Heliyon 2024; (10(6)):e27539 doi:10.1016/j.heliyon.2024.e27539.

Dominant negative OTULIN-related autoinflammatory syndrome.

Davidson S, Shibata Y, Collard S, et al.

The Journal of experimental medicine 2024; (221(6)) doi:10.1084/jem.20222171.

A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.

Takeda Y, Ueki M, Matsuhiro J, et al.

The Journal of experimental medicine 2024; (221(6)) doi:10.1084/jem.20231941.

Current genetic diagnostics in inborn errors of immunity.

von Hardenberg S, Klefenz I, Steinemann D, et al.

Frontiers in pediatrics 2024; (12()):1279112 doi:10.3389/fped.2024.1279112.

OTULIN-related conditions: Report of a new case and review of the literature using GenIA.

Caballero-Oteyza A, Crisponi L, Peng XP, et al.

Research square 2024; doi:10.21203/rs.3.rs-3950863/v2.

OTULIN deficiency: focus on innate immune system impairment.

Dou B, Jiang G, Peng W, Liu C

Frontiers in immunology 2024; (15()):1371564 doi:10.3389/fimmu.2024.1371564.

Caregiver Burden, Parenting Stress and Coping Strategies: The Experience of Parents of Children and Adolescents with Osteogenesis Imperfecta.

Aratti A, Zampini L

Healthcare (Basel, Switzerland) 2024; (12(10)) doi:10.3390/healthcare12101018.

Transition to Adult Care in Autoinflammatory Diseases: A Cohort of 111 French Patients.

Elhani I, Hentgen V, Quartier P, et al.

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2024; (30(7)):297-299 doi:10.1097/RHU.0000000000002132.

The effect of intolerance of uncertainty, sleep quality, and social support on caregiver burden in parents of children with chronic diseases: A cross-sectional study.

Doğaner F, Celen R

Journal of pediatric nursing 2025; (81()):e106-e112 doi:10.1016/j.pedn.2025.02.006.

Pediatric Pancreatic Panniculitis: An Uncommon Manifestation of Acute Pancreatitis.

Aravind A, Ishran B, Poddar U, et al.

ACG case reports journal 2025; (12(5)):e01696 doi:10.14309/crj.0000000000001696.

Alpha-1 Antitrypsin Deficiency-Associated panniculitis: A survey of lived experience.

Townsend J, Alluhibi R, Lynch N, et al.

PloS one 2025; (20(6)):e0326686 doi:10.1371/journal.pone.0326686.

Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: "It's the more negative ones that you remember".

Burbury L, Ayres S, Boyle J, et al.

Journal of genetic counseling 2025; (34(4)):e70102 doi:10.1002/jgc4.70102.

Fecal surrogate markers strongly correlate with endoscopic findings in pediatric onset inflammatory bowel disease: a retrospective study in Japan.

Yoshimura R, Kudo T, Toda M, et al.

Intestinal research 2026; (24(3)):492-503 doi:10.5217/ir.2025.00103.

The expected utility and psychological impacts of exome sequencing results in the DDD-Africa study.

Schnell S, Goliath Z, Shingwenyana B, et al.

Journal of genetic counseling 2026; (35(3)):e70251 doi:10.1002/jgc4.70251.

When cure is not enough: Parental anxiety, depression, and caregiver burden after HSCT for inborn errors of immunity.

Aydemir S, Durcan G, Nurhan E, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2026; (37(11)).