• A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles
• A case of mother and child with CANDLE syndrome: Diagnosis and subsequent treatment with baricitinib
• A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy
• A De Novo <em>BSCL2</em> Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement
• A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation
• A Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma
• A Rare Mutation in <em>LMNB2</em> Associated with Lipodystrophy Drives Premature Cell Senescence
• A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence
• A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
• Acquired partial lipodystrophy and C3 glomerulopathy: Dysregulation of the complement system as a common pathogenic mechanism
• Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
• Amenorrhea, ptosis and high insulin requirement in a young girl
• Annular neutrophilic dermatoses
• Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis
• Atypical Progeroid Syndrome and Partial Lipodystrophy Due to <em>LMNA</em> Gene p.R349W Mutation
• Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
• Autoinflammatory syndromes in childhood
• Autologous micro-fragmented adipose tissue for the treatment of diffuse degenerative knee osteoarthritis: an update at 3 year follow-up
• Biological Treatments and Target Therapies for Pediatric Respiratory Medicine: Not Only Asthma
• CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation
• CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation
• Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C
• Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome
• Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature Syndrome: A Systemic Review
• Clinical analysis of 49 cases of non-inflammasome related conditions
• Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation
• Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene
• Dermatologic Manifestations of Noninflammasome-Mediated Autoinflammatory Diseases
• Development of a Validated Interferon Score Using NanoString Technology
• Diffuse, mottled hyperpigmentation and mutations in LMNA gene in a 5-year-old boy, his mother, and his grandmother: Atypical progeroid syndrome
• Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome
• Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS
• Drug-Induced Atypical Lipodystrophy
• Dysfunctional immunoproteasomes in autoinflammatory diseases
• Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrity
• Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS)
• Efficacy and Safety of Janus Kinase Inhibitors in Type I Interferon-Mediated Monogenic Autoinflammatory Disorders: A Scoping Review
• Efficacy, safety, bone and metabolic effects of HIV nucleoside reverse transcriptase inhibitor BMS-986001 (AI467003): a phase 2b randomised, controlled, partly blinded trial
• Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges
• Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies
• Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C &gt; T <em>LMNA</em> mutation
• Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation
• Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome
• Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome
• Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
• Histologic and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome
• HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease
• Human induced pluripotent stem cells generated from Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A)
• Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)
• Irisin levels in LMNA-associated partial lipodystrophies
• JAK-inhibitors. New players in the field of immune-mediated diseases, beyond rheumatoid arthritis
• JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
• Lamin A involvement in ageing processes
• Lipedema in a male patient: report of a rare case - management and review of the literature
• Looking at New Unexpected Disease Targets in <em>LMNA</em>-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice
• Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice
• Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes
• Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A
• Mice harboring a R133L heterozygous mutation in LMNA exhibited ectopic lipid accumulation, aging, and mitochondrial dysfunction in adipose tissue
• Misty mesentery : Mesenteric panniculitis and associated processes
• Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases
• Monogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi population
• Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE
• Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an <em>LMNA</em> p.R349W Variant
• Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant
• Mutations Involved in Premature-Ageing Syndromes
• Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes
• Nakajo-Nishimura Syndrome: The First African Case
• Neuropathological Alzheimer's Disease Lesions in Nasu-Hakola Disease with TREM2 Mutation: Atypical Distribution of Neurofibrillary Changes
• Neutrophilic panniculitis arising from hematogenous spread of methicillin-resistant Staphylococcus aureus
• Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant
• Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4
• Pancreatic Islet Responses to Metabolic Trauma
• Panniculitis: A Cardinal Sign of Autoinflammation
• 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)
• Periodic fever syndromes
• Periodontal Manifestations of Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature (CANDLE) Syndrome in an 11-Year-Old Patient
• POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies
• Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation
• Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis
• Preclinical, randomized phase 1, and compassionate use evaluation of REGN4461, a leptin receptor agonist antibody for leptin deficiency
• Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management
• Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report
• Secondary hypertriglyceridemia
• Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by <em>LMNA</em> p.G465D mutation: a first clinical characterization and two-year follow-up
• Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up
• Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms
• Spigelian hernia
• Successful treatment of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome with tofacitinib
• Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features
• The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
• The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS
• The complicated clinical course in a case of atypical lipodystrophy after development of neutralizing antibody to metreleptin: treatment with setmelanotide
• The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B
• The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation
• Toward a better understanding of type I interferonopathies: a brief summary, update and beyond
• Treatment of severe alopecia areata with baricitinib
• Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene
• Whole-exome sequencing identifies <em>ADRA2A</em> mutation in atypical familial partial lipodystrophy
• Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy