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OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Clin Immunol
August 2024
Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany; RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany. Electronic address:
OTULIN encodes an eponymous linear deubiquitinase (DUB) essential for controlling inflammation as a negative regulator of the canonical NF-κB signaling pathway via the regulation of M1-Ub dynamics. Biallelic loss-of-function (LOF) mutations in OTULIN cause an autosomal recessive condition named Otulin-Related Autoinflammatory Syndrome (ORAS), also known as Otulipenia or AutoInflammation, Panniculitis, and Dermatosis Syndrome (AIPDS). Monoallelic OTULIN LOF, also known as OTULIN Haploinsufficiency (OHI) or Immunodeficiency 107 (IMD107), has been linked to an incompletely penetrant, dominantly inherited susceptibility to invasive Staphylococcal infections.
View Article and Find Full Text PDFOTULIN haploinsufficiency predisposes to environmentally directed inflammation.
Front Immunol
June 2024
Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunology, KU Leuven, Leuven, Belgium.
Recently, OTULIN haploinsufficiency was linked to enhanced susceptibility to infections accompanied by local necrosis and systemic inflammation. The pathogenesis observed in haploinsufficient patients differs from the hyperinflammation seen in classical OTULIN-related autoinflammatory syndrome (ORAS) patients and is characterized by increased susceptibility of dermal fibroblasts to alpha toxin-inflicted cytotoxic damage. Immunological abnormalities were not observed in OTULIN haploinsufficient patients, suggesting a non-hematopoietic basis.
View Article and Find Full Text PDFOTULIN deficiency: focus on innate immune system impairment.
Front Immunol
May 2024
Central South University, Xiangya Hospital, Pediatric Department, Changsha, Hunan, China.
OTULIN deficiency is a complex disease characterized by a wide range of clinical manifestations, including skin rash, joint welling, lipodystrophy to pulmonary abscess, and sepsis shock. This disease is mechanistically linked to mutations in the gene, resulting in an immune disorder that compromises the body's ability to effectively combat pathogens and foreign stimuli. The gene is responsible for encoding a deubiquitinating enzyme crucial for hydrolyzing Met1-poly Ub chains, and its dysfunction leads to dysregulated immune responses.
View Article and Find Full Text PDFOTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Res Sq
March 2024
Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany.
encodes an eponymous linear deubiquitinase (DUB), which through the regulation of M1-Ub dynamics, is essential for controlling inflammation as a negative regulator of the canonical NF-B signaling pathway. Biallelic loss-of-function (LOF) mutations in cause an autosomal recessive condition named Otulin-Related Autoinflammatory Syndrome (ORAS), also known as Otulipenia or AutoInflammation, Panniculitis, and Dermatosis Syndrome (AIPDS). Monoallelic LOF, also known as OTULIN Haploinsufficiency (OHI) or Immunodeficiency 107 (IMD107), has been linked to an incompletely penetrant, dominantly inherited susceptibility to invasive Staphylococcal infections.
View Article and Find Full Text PDFOTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers.
J Clin Immunol
April 2024
Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.
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