Search Results: Autoinflammatory


Autoinflammatory disease
Kamis, 2026-08-20 01:21:10

Autoinflammatory diseases (AIDs) are a group of rare disorders caused by dysfunction of the innate immune system. These responses are characterized by...

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Cold urticaria
Kamis, 2026-04-09 05:16:02

widespread welting. Familial cold urticaria (also known as familial cold autoinflammatory syndrome, FCAS) is an autosomal dominant condition characterized by...

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Periodic fever syndrome
Jumat, 2026-04-24 01:10:03

system, people with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells. Instead, the autoinflammatory diseases are characterized...

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Daniel L. Kastner
Selasa, 2026-08-04 12:14:49

American physician and researcher specialising in the genetics of autoinflammatory disorders. He was a Distinguished Investigator at the National Institutes...

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Crohn's disease
Kamis, 2026-08-13 01:39:37

immune pathways, though it is not classified as a classic autoimmune or autoinflammatory disease. Instead, the prevailing model describes a breakdown in the...

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List of skin conditions
Jumat, 2026-08-14 00:58:08

syndrome (SAPHO syndrome) Steroid rosacea Tar acne Tropical acne Autoinflammatory syndromes are a group of inherited disorders characterized by bouts...

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Autoimmune disease
Rabu, 2026-08-12 21:05:40

part can be involved. Autoimmune diseases are a separate class from autoinflammatory diseases. Both are characterized by an immune system malfunction which...

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STING-associated vasculopathy with onset in infancy
Selasa, 2026-02-10 12:28:26

STING-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory vasculopathy associated with the stimulator of interferon genes (STING)...

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Familial Mediterranean fever
Minggu, 2026-08-09 18:48:13

Mediterranean fever (FMF) is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in the Mediterranean fever (MEFV) gene...

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Cryopyrin-associated periodic syndrome
Selasa, 2026-08-11 17:44:47

Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin 1β-mediated systemic inflammation...

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VEXAS syndrome
Rabu, 2026-07-15 15:33:55

VEXAS syndrome is an adult-onset autoinflammatory disease primarily affecting males, caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor...

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Schnitzler syndrome
Sabtu, 2026-01-31 16:35:25

and enlarged spleen and liver. Schnitzler syndrome is considered an autoinflammatory disorder and is generally treated with anakinra, which inhibits interleukin...

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Ankylosing spondylitis
Rabu, 2026-08-12 08:18:44

positive). The underlying mechanism is believed to be autoimmune or autoinflammatory. Diagnosis is based on symptoms with support from medical imaging and...

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CANDLE syndrome
Rabu, 2025-11-12 05:10:06

is an autosomal recessive disorder that presents itself via various autoinflammatory responses throughout the body, multiple types of skin lesions, and...

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NLRP3
Minggu, 2026-08-16 13:05:19

PYD domains-containing protein 3 [NALP3]; cryopyrin; cold induced autoinflammatory syndrome 1 (CIAS1), caterpillar-like receptor 1.1 (CLR1.1), and PYRIN-containing...

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Chronic spontaneous urticaria
Rabu, 2026-02-25 19:08:51

critical for detecting signs of systemic inflammation and ruling out autoinflammatory conditions as well as urticarial vasculitis with systemic involvement...

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Chronic recurrent multifocal osteomyelitis
Senin, 2026-08-03 14:54:06

related to SAPHO syndrome. Research now classifies CRMO as an inherited autoinflammatory disease but have yet to isolate the exact gene or other causes responsible...

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Yao syndrome
Senin, 2025-08-11 10:47:23

Yao syndrome (YAOS), formerly called NOD2-associated autoinflammatory disease, is an autoinflammatory syndrome involving episodes of fever and abnormal inflammation...

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Mediterranean Sea
Sabtu, 2026-08-15 05:16:13

Exclusive economic zone of Greece Familial Mediterranean fever – Genetic autoinflammatory disease History of the Mediterranean region Holy League (1571) – Catholic...

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Breast implant illness
Selasa, 2026-08-18 13:24:11

Breast implant illness (BII), also known as autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA), along with other terms, is a condition that...

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David B. Beck
Minggu, 2026-03-01 02:59:30

novel inflammatory disorder they called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome, or VEXAS syndrome. In 2021, Beck joined the New...

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Alopecia areata
Selasa, 2026-08-11 17:13:47

activation, which has been observed to exacerbate preexisting autoimmune or autoinflammatory conditions in at-risk populations. A small study observed hair loss...

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Systemic-onset juvenile idiopathic arthritis
Rabu, 2026-05-27 05:08:30

but a genetic predisposition may play a role. It is considered an autoinflammatory condition, rather than an autoimmune disease, due to the lack of evidence...

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RIPK1
Selasa, 2026-08-18 09:20:15

inhibitor that may be useful in the management of multiple sclerosis. An autoinflammatory disease characterised by recurrent fevers and lymphadenopathy has been...

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Rilonacept
Sabtu, 2025-07-19 14:10:34

treat cryopyrin-associated periodic syndromes, including familial cold autoinflammatory syndrome, and Muckle–Wells syndrome; deficiency of interleukin-1 receptor...

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List of primary immunodeficiencies
Rabu, 2026-03-11 16:32:19

Hidradenitis suppurativa Rather than predisposing for infections, most of the autoinflammatory disorders lead to excessive inflammation. Many manifest themselves...

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Adult-onset Still's disease
Rabu, 2026-05-06 07:52:12

Still's disease (AOSD) is a form of Still's disease, a rare systemic autoinflammatory disease characterized by the classic triad of fevers, joint pain, and...

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Immunology
Sabtu, 2026-06-13 20:51:59

conditions, primary immunodeficiencies and systemic autoimmune and autoinflammatory conditions. As part of their training fellows may do additional rotations...

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Qatar Genome Programme
Senin, 2026-03-09 18:12:17

integrating genomic data and variant annotations are also underway for autoinflammatory diseases The allele frequencies of population-scale genomes are also...

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Deficiency of the interleukin-1–receptor antagonist
Kamis, 2025-07-17 00:05:45

interleukin-1–receptor antagonist (DIRA) is an autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in IL1RN, the gene encoding the interleukin...

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Anakinra
Selasa, 2026-08-11 17:14:53

Clinical Commissioning Policy: Anakinra to treat periodic fevers and autoinflammatory disorders (all ages) allowing Anakinra to be commissioned as a first-line...

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Febrile neutrophilic dermatosis
Rabu, 2026-07-29 12:29:48

cutaneous conditions Periodic fever syndrome, also known as autoinflammatory diseases or autoinflammatory syndromes Mustafa NM, Lavizzo M (2008). "Sweet syndrome...

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Pyroptosis
Senin, 2026-07-20 21:24:26

to tissue damage. Pyroptosis is associated with diseases including autoinflammatory, metabolic, and cardiovascular diseases, as well as cancer and neurodegeneration...

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FCAS
Minggu, 2026-06-14 04:28:40

FCAS may refer to: Familial cold autoinflammatory syndrome, a genetic disease Fellow of the Casualty Actuarial Society, a U.S. professional society The...

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OAS1
Minggu, 2025-10-05 17:52:47

susceptibility to viral infection, while gain-of-function variants can cause autoinflammatory immunodeficiency. Alternatively spliced transcript variants encoding...

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Inflammation
Selasa, 2026-08-11 14:40:52

with inflammation include: Acne vulgaris Asthma Autoimmune diseases Autoinflammatory diseases Celiac disease Chronic prostatitis Colitis Diverticulitis...

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Lupus
Selasa, 2026-08-18 00:22:15

1007/s10875-024-01696-8. PMID 38619739. An J, Marwaha A, Laxer RM (September 2024). "Autoinflammatory Diseases: A Review". The Journal of Rheumatology. 51 (9): 848–861....

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AIDS (disambiguation)
Selasa, 2026-08-11 03:12:34

and Defence Service, a fictional organisation in the film Bad Taste Autoinflammatory diseases, a group of disorders of the innate immune system AIDS (aeronautics)...

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Urticarial dermatoses
Minggu, 2024-02-18 05:42:53

vasculitis Schnitzler syndrome NLRP3-associated autoinflammatory disease (NLRP3-AID) NLRP12-associated autoinflammatory disease (NLRP12-AID) PLAID syndrome FCAS4...

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Interleukin 1 beta
Sabtu, 2026-05-16 02:37:54

cleavage site. Increased production of IL-1β causes a number of different autoinflammatory syndromes, most notably the monogenic conditions referred to as Cryopyrin-Associated...

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Laiko General Hospital
Sabtu, 2026-07-04 08:52:43

the National and Kapodestrian University of Athens – Rare systemic autoinflammatory and autoimmune diseases 1st Propaedeutic Pathology Clinic and Special...

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Pyoderma gangrenosum
Rabu, 2026-08-12 21:09:53

pyoderma gangrenosum and acne syndrome (PAPA syndrome), a type of autoinflammatory disorder, is associated with mutations in the proline-serine-threonine...

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Hidradenitis suppurativa
Selasa, 2026-08-11 09:38:26

gain-of-function disease, chronic granulomatous disease, and selected autoinflammatory syndromes. Precocious puberty is more common among children and adolescents...

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Amyloidosis
Kamis, 2026-08-13 07:34:41

PA, et al. (September 2015). "Recommendations for the management of autoinflammatory diseases". Annals of the Rheumatic Diseases. 74 (9): 1636–44. doi:10...

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Majeed syndrome
Senin, 2025-11-17 08:09:31

dyserythropoietic anemia and a neutrophilic dermatosis. It is classified as an autoinflammatory bone disorder. The condition is found in people with two defective...

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PAPA syndrome
Minggu, 2026-08-02 12:12:30

This protein is part of an inflammatory pathway associated with other autoinflammatory diseases such as familial Mediterranean fever, hyperimmunoglobulinemia...

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Kawasaki disease
Minggu, 2026-08-16 12:49:05

response to some infectious pathogen, as an autoimmune process, or as an autoinflammatory disease (i.e. involving innate rather than adaptive immune pathways)...

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Dira
Kamis, 2022-10-20 00:27:11

Racer Deficiency of the interleukin-1–receptor antagonist (DIRA), autoinflammatory syndrome Dirac (dress) or dirá, Somali garment dira, also transliterated...

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Tumor necrosis factor
Jumat, 2026-08-07 11:17:40

death, such as RIPK1, are being evaluated for their efficacy against autoinflammatory diseases. TNF was initially discovered as an agent that kills tumors...

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List of syndromes
Rabu, 2026-07-29 11:14:17

Autoimmune polyendocrine syndrome type 3 Autoimmune polyendocrine syndrome Autoinflammatory syndromes Avellis syndrome Axenfeld syndrome Axial spondyloarthritis...

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ROSAH syndrome
Selasa, 2026-07-28 03:33:09

(2022). "Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course...

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Autoimmune/inflammatory syndrome induced by adjuvants
Kamis, 2025-10-16 10:42:52

(1 November 2017). "Evidence Refuting the Existence of Autoimmune/Autoinflammatory Syndrome Induced by Adjuvants (ASIA)". The Journal of Allergy and Clinical...

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Interleukin-1 receptor antagonist
Senin, 2026-01-26 12:38:22

Biallelic deleterious mutations in the IL1RN gene results in a rare autoinflammatory disease called deficiency of the interleukin-1–receptor antagonist...

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List of Indian inventions and discoveries
Rabu, 2026-08-19 00:16:09

discovery of PgeF enzyme opens doors for new antibiotics and insights into autoinflammatory diseases Zaynich, is a breakthrough Antimicrobial resistance (AMR)...

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Canakinumab
Selasa, 2026-06-16 03:12:24

for gout in the US. CAPS is a spectrum of autoinflammatory syndromes including Familial Cold Autoinflammatory Syndrome (FCAS), Muckle–Wells syndrome (MWS)...

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Prurigo nodularis
Sabtu, 2026-07-18 01:46:46

Prurigo nodularis (PN) is a chronic, inflammatory skin disease characterized by intense pruritus and symmetrically distributed, firm papules or nodules...

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Pustular psoriasis
Sabtu, 2025-05-24 22:45:23

clindermatol.2005.10.009. PMID 16487882. Naik HB, Cowen EW (July 2013). "Autoinflammatory pustular neutrophilic diseases". Dermatol Clin. 31 (3): 405–25. doi:10...

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USP18
Minggu, 2026-08-16 16:59:26

increased responsiveness to type I interferons and life-threatening autoinflammatory disease in humans due to the negative regulatory function of USP18...

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Immunoproteasome
Selasa, 2025-05-27 07:04:59

encodes the LMP7 subunit, are involved in a variety of diseases and autoinflammatory disorders, the symptoms of which include skin rash, erythema, spiking...

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Behçet's disease
Senin, 2026-07-20 02:56:15

Behçet's disease or Behçet's syndrome (/bɛˈtʃɛt/; BD; sometimes written Behcet) is a type of inflammatory disorder which affects multiple parts of the...

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CD4
Kamis, 2026-04-09 15:19:40

vitiligo and type I diabetes mellitus. T-cells play a large part in autoinflammatory diseases. When testing a drug's efficacy or studying diseases, it is...

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Orange ribbon
Sabtu, 2026-06-27 01:28:28

inflammation and fevers, which are prevalent in flare-ups of autoinflammatory diseases. The Autoinflammatory Alliance logo has these colors, alongside a design...

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Adenosine deaminase 2 deficiency
Senin, 2026-01-26 13:01:19

Kendall JL, Springer JM (August 2020). "The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency". Current Rheumatology Reports...

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PSMB8
Selasa, 2026-06-09 12:18:34

(G197V) in the immunoproteasome subunit, β type 8 (PSMB8) suffered from autoinflammatory responses that included recurrent fever and nodular erythema together...

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Andreas Clemens
Senin, 2026-05-25 03:43:19

for Europe (2021–2023), Global Head of Medical Affairs Strategy for Autoinflammatory Diseases and Ocular Gene Therapy (2023–2024), and Executive Director...

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CARD14
Selasa, 2026-08-11 22:39:33

common sites of pathogenic mutations linked to psoriasis and other autoinflammatory conditions. The inhibitory domain regulates autoinhibition; for example...

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Crafoord Prize
Sabtu, 2026-08-08 10:36:15

2021 Polyarthritis Daniel L. Kastner "for establishing the concept of autoinflammatory diseases" 2022 Geosciences Andrew H. Knoll "for fundamental contributions...

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List of diagnoses characterized as pseudoscience
Rabu, 2026-08-12 22:39:00

Mark (November 2017). "Evidence Refuting the Existence of autoimmune/Autoinflammatory Syndrome Induced by Adjuvants (ASIA)". The Journal of Allergy and Clinical...

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Haploinsufficiency of A20
Senin, 2026-08-17 00:06:14

disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. Ann Rheum Dis 77(5):728-735 doi: 10.1136/annrheumdis-2017-212403...

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Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Selasa, 2026-08-11 19:15:10

Katherine A. (March 2023). "A path towards personalized medicine for autoinflammatory and related diseases". Nature Reviews Rheumatology. 19 (3): 182–189...

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Spondyloarthritis
Sabtu, 2026-07-18 10:59:15

explain HLA-B27's function. They suggest that HLA-B27's genesis may be autoinflammatory rather than autoimmune, as it plays a part in initiating innate immune...

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Axial spondyloarthritis
Senin, 2026-07-20 12:17:28

Axial spondyloarthritis (also often referred to as axSpA) is a chronic, immune-mediated disease predominantly affecting the axial skeleton (sacroiliac...

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UC San Diego Health
Kamis, 2026-07-09 12:51:21

arthritis, the identification of the genetic basis for familial cold autoinflammatory syndrome, the discovery of an early warning sign for autism, the connection...

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Relapsing polychondritis
Sabtu, 2025-10-04 18:44:17

diseases Psoriasis, atopic dermatitis, lichen ruber planus, vitiligo. Autoinflammatory diseases Familial Mediterranean fever. Others Primary biliary cirrhosis...

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Presbycusis
Selasa, 2026-03-03 13:50:51

blood or other sera test for inflammatory markers such as those for autoinflammatory diseases. A hearing test administered by a medical doctor, otolaryngologist...

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Shapiro–Senapathy algorithm
Minggu, 2026-08-09 04:03:48

sclerosis, systemic lupus erythematosus, bloom syndrome, familial cold autoinflammatory syndrome, and dyskeratosis congenita. The Shapiro–Senapathy algorithm...

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Nakajo syndrome
Selasa, 2025-07-15 11:29:47

Kessler M, Emanuel PD, Gao L (February 2015). "Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis...

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Autoimmune disease in women
Senin, 2026-07-27 09:18:52

Behçet's disease (though whether this represents an autoimmune disease vs autoinflammatory disease remains unclear.) On closer inspection, some diseases initially...

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ATG16L1
Rabu, 2025-07-16 23:34:18

2012). "Autophagy in immunity: implications in etiology of autoimmune/autoinflammatory diseases". Autophagy. 8 (9): 1286–99. doi:10.4161/auto.21212. PMC 3442876...

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NOD-like receptor
Selasa, 2026-02-10 17:06:28

IL-18. NLRP3 mutations are responsible for the autoinflammatory disease familial cold autoinflammatory syndrome or Muckle–Wells syndrome. There are three...

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Regeneron Pharmaceuticals
Sabtu, 2026-07-25 22:38:28

in November 2020. Arcalyst (rilonacept) is used for specific, rare autoinflammatory conditions. Approved by the FDA in February 2008.[citation needed]...

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Tadamitsu Kishimoto
Minggu, 2026-06-28 02:58:49

and has been shown to be of great therapeutic value in a series of autoinflammatory diseases including Castleman's Disease, rheumatoid arthritis and juvenile...

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Andrea Ablasser
Kamis, 2026-03-19 08:05:17

Retrieved 27 July 2018. "New small molecules pave the way for treating autoinflammatory disease". ScienceDaily. Retrieved 27 July 2018. "Wissenschaftspreis...

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Vaccine hesitancy
Selasa, 2026-08-11 19:43:23

Literature review and meta-analysis, with reference to 'autoimmune/autoinflammatory syndrome induced by adjuvants' (ASIA)". Vaccine (Systematic Review...

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Mevalonate kinase deficiency
Minggu, 2026-03-15 04:03:14

(August 2016). "Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS". Nat Immunol. 17 (8): 914–21. doi:10.1038/ni...

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PSTPIP2
Kamis, 2025-12-18 19:08:05

of IL-13 The missense mutation I282N leads to a macrophage-mediated autoinflammatory disease called Lupo Pstpip2 (Pstpip2Lupo/Lupo ). It is characterized...

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Inborn errors of immunity
Kamis, 2026-07-02 17:15:07

7). Autoinflammatory disorders consisting of 56 defective genes causing 59 diseases. These diseases include various types of autoinflammatory diseases...

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1000minds
Senin, 2026-06-15 00:56:21

diagnosing and classifying rheumatoid arthritis, systemic sclerosis, gout, autoinflammatory disease, cryopyrin-associated periodic syndrome, dermatomyositis and...

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Multisystem inflammatory syndrome
Kamis, 2024-04-11 16:28:24

insult. Neonatal-onset multisystem inflammatory disease, a rare genetic autoinflammatory disease which causes uncontrolled systemic inflammation from early...

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Eldad Ben-Chetrit
Minggu, 2026-03-01 10:30:56

treatment of several autoinflammatory diseases (NEJM 2018) and headed a committee for renaming and revising the definition of autoinflammatory diseases (Ann...

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MDA5
Jumat, 2026-04-03 21:27:07

that MDA5 also interacts with cellular RNA and is able to induce an autoinflammatory response. MDA5 is able to detect long dsRNA, the genomic RNA of dsRNA...

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NLRC4
Kamis, 2025-07-17 01:06:02

complex. Humans bearing activating mutations in NLRC4 can develop an autoinflammatory syndrome characterized by acute fever, hepatitis, very high serum ferritin...

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Major histocompatibility complex, class I-related
Minggu, 2026-08-16 09:19:10

and joints. Both of these diseases are also known as autoimmune or autoinflammatory diseases due to the presence of specific autoantibodies. It is also...

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Blau syndrome
Minggu, 2026-05-31 09:17:52

Costa, Luisa; Sfriso, Paolo; Cantarini, Luca; Punzi, Leonardo (2015). "Autoinflammatory granulomatous diseases: From Blau syndrome and early-onset sarcoidosis...

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Xiao P. Peng
Senin, 2026-08-17 18:49:30

Peng XP, Schnappauf O, de Jesus AA, Aksentijevich I. "Chapter 70: Autoinflammatory Disorders." Manual of Molecular and Clinical Laboratory Immunology...

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Yehuda Shoenfeld
Sabtu, 2026-07-04 10:45:06

Rohan (2017-11-01). "Evidence Refuting the Existence of Autoimmune/Autoinflammatory Syndrome Induced by Adjuvants (ASIA)". The Journal of Allergy and Clinical...

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Itaconic acid
Kamis, 2026-08-13 03:02:01

the cryopyrin-associated periodic syndrome, i.e., CAPS. CAPS is an autoinflammatory disease due to any one of several mutations in the NLRP3 gene; these...

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Fever of unknown origin
Senin, 2026-04-27 22:08:34

Granulomatous diseases Granulomatous hepatitis Sarcoidosis Midline granuloma Autoinflammatory syndromes Adult-onset Still's disease Blau syndrome CAPS (Cryopyrin-associated...

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Prevotella
Jumat, 2026-08-14 01:41:13

Walle LV (2014-12-11). "Dietary modulation of the microbiome affects autoinflammatory disease". Nature. 516 (7530): 246–249. Bibcode:2014Natur.516..246L...

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Knee pain
Sabtu, 2026-06-20 13:18:33

chondrocyte injury. There is also a hereditary disease, familial cold autoinflammatory syndrome (FCAS), which often features knee pain, in addition to hives...

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PSTPIP1
Selasa, 2025-10-21 03:57:30

disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder". Hum. Mol. Genet. 11 (8): 961–9. CiteSeerX 10.1.1.588.1632...

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Hepatitis B vaccine
Jumat, 2026-07-31 07:23:32

Literature review and meta-analysis, with reference to 'autoimmune/autoinflammatory syndrome induced by adjuvants' (ASIA)". Vaccine (Review). 36 (38):...

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Thirumala-Devi Kanneganti
Selasa, 2026-08-11 19:37:09

her lab also established the importance of the NLRP3 inflammasome in autoinflammatory diseases, intestinal inflammation, neuroinflammation, cancer, and metabolic...

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NLRP2
Selasa, 2026-08-18 09:07:04

IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder". Immunity. 20 (3): 319–25. doi:10.1016/S1074-7613(04)00046-9...

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National Institute of Arthritis and Musculoskeletal and Skin Diseases
Rabu, 2026-03-25 16:36:34

Diseases Integrative Biology Research Program Scleroderma, Fibrosis, and Autoinflammatory Disease Program Systemic Autoimmune Disease Biology Program Bone Biology...

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Periodic fever, aphthous stomatitis, pharyngitis and adenitis
Sabtu, 2026-05-16 09:01:51

Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a medical condition, typically occurring in young children, in which high fever...

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Neurogenetics
Selasa, 2026-04-07 07:27:46

high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?". BMC Neurology...

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DPP9
Sabtu, 2025-10-11 22:04:27

2018). "Human DPP9 represses NLRP1 inflammasome and protects against autoinflammatory diseases via both peptidase activity and FIIND domain binding". The...

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MEFV
Selasa, 2025-09-30 08:46:13

(August 2016). "Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS". Nature Immunology. 17 (8): 914–921. doi:10...

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Mevalonate kinase
Minggu, 2025-09-28 05:47:39

Koné-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou I (June 2007). "Autoinflammatory gene mutations in Behçet's disease". Annals of the Rheumatic Diseases...

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RNASEH2B
Minggu, 2025-06-01 13:28:54

ribonucleotide excision repair and causing Aicardi-Goutières Syndrome, an autoinflammatory disorder linked to accumulated DNA damage. Knockout of the RNASEH2B...

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Muckle–Wells syndrome
Kamis, 2026-02-12 22:26:42

Muckle–Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis....

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Childhood-onset systemic lupus erythematosus
Senin, 2026-08-17 17:14:48

1007/s10875-024-01696-8. PMID 38619739. An J, Marwaha A, Laxer RM (September 2024). "Autoinflammatory Diseases: A Review". The Journal of Rheumatology. 51 (9): 848–861....

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Lipoprotein(a)
Minggu, 2026-08-16 12:51:50

may be affected by disease states (for example, kidney failure or autoinflammatory conditions), but are only slightly affected by diet, exercise, and...

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Istituto Giannina Gaslini
Selasa, 2026-01-27 22:42:20

-Pediatric science, surgery, and neonatology -Rheumatology, Immunology, and Autoinflammatory Diseases -Hematology, oncology, and cell therapies -Muscular and neurological...

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Natural killer T cell
Kamis, 2026-08-06 14:41:47

to lead to the development of autoimmune diseases such as diabetes, autoinflammatory diseases such as atherosclerosis, and cancers. NKT cells have recently...

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John J. O'Shea
Jumat, 2025-07-18 00:04:07

The section also studies patients with primary immunodeficiency and autoinflammatory syndromes. His area of scientific interest is cytokine signal transduction...

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Sensorineural hearing loss
Kamis, 2026-05-07 09:10:11

neural cause of hearing loss. Muckle–Wells syndrome, a rare inherited autoinflammatory disorder, can lead to hearing loss. Autoimmune disease: Although probably...

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Harrison's Principles of Internal Medicine
Kamis, 2025-08-14 13:03:32

Disease Chapter 362: Familial Mediterranean Fever and Other Hereditary Autoinflammatory Diseases Section 3: Disorders of the Joints and Adjacent Tissues Chapter...

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Neal S. Young
Selasa, 2026-03-17 02:58:31

diseases, and is part of the VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory Syndrome) discovery team at NIH. Young has published over 500 scientific...

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Bruno Reversade
Selasa, 2026-08-11 17:28:58

(2018-10-05). "Human DPP9 represses NLRP1 inflammasome and protects against autoinflammatory diseases via both peptidase activity and FIIND domain binding". Journal...

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PLD4
Senin, 2026-01-26 04:05:03

(October 2021). "Cleavage of DNA and RNA by PLD3 and PLD4 limits autoinflammatory triggering by multiple sensors". Nature Communications. 12 (1) 5874...

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Mediterranean fever
Kamis, 2023-03-09 08:32:07

Familial Mediterranean fever, a hereditary inflammatory disorder and an autoinflammatory disease caused by mutations in MEFV gene Mediterranean Fever (film)...

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RELA
Rabu, 2026-01-14 12:32:59

results in truncated protein variant has been reported to cause severe autoinflammatory disease due to impaired NF-κB signaling and increased apoptosis. The...

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TNFRSF18
Selasa, 2025-10-21 23:24:10

decreased anti-apoptotic markers (e.g. Bcl-2). Atherosclerosis is autoinflammatory disease that belongs to the group of cardiovascular diseases (CVD)...

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Vogt–Koyanagi–Harada disease
Selasa, 2025-06-24 22:17:18

Vogt–Koyanagi–Harada disease (VKH) is a multisystem disease of presumed autoimmune cause that affects melanin-pigmented tissues. The most significant manifestation...

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Liliane Schnitzler
Minggu, 2026-03-01 10:23:58

eponymous Schnitzler's syndrome in 1972. Schnitzler's syndrome is a rare autoinflammatory disorder. The disorder was first called Schnitzler's syndrome in 1989...

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Caps
Rabu, 2026-05-13 03:27:18

antiphospholipid syndrome Cryopyrin-associated periodic syndrome, a spectrum of autoinflammatory syndrome CAPS (buffer), N-cyclohexyl-3-aminopropanesulfonic acid, in...

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Interferon gamma
Kamis, 2026-08-13 06:47:32

expression. Aberrant IFNG expression is associated with a number of autoinflammatory and autoimmune diseases. The importance of IFNG in the immune system...

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ISG15
Minggu, 2026-08-16 09:08:50

observed in all patients reported to date and represents the underlying autoinflammatory disease of excessive IFN-I activity, known as type I interferonopathy...

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NLRP
Jumat, 2025-10-03 20:05:36

to NLRP3. For example, Muckle-Wells syndrome (MWS), Familial Cold Autoinflammatory syndrome (FCAS), and Chronic Infantile Neurological Cutaneous Articular...

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List of OMIM disorder codes
Selasa, 2026-08-04 21:22:31

syndrome; 303600; RPS6KA3 Cohen syndrome; 216550; COH1 Cold-induced autoinflammatory syndrome, familial; 120100; NLRP3 Cold-induced sweating syndrome 1;...

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Pyrin domain
Rabu, 2026-08-19 19:20:32

signaling [1] Cryopyrin-associated periodic syndromes, familial cold autoinflammatory syndrome, Muckle–Wells syndrome NLRP4 Cytosolic bacterial flagellin...

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IL17RD
Minggu, 2026-03-29 23:43:58

important role in extracellular pathogen elimination as well as several autoinflammatory diseases (such as psoriasis or rheumatoid arthritis). IL-17RD has been...

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List of rare disease organisations
Sabtu, 2026-08-15 04:04:59

Care-For-Rare Foundation [de] Niemann-Pick UK Rare Disease UK Rare Autoinflammatory Conditions Community - UK The Aarskog Foundation The National Organization...

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Multisystem inflammatory syndrome in children
Jumat, 2026-07-24 09:58:55

that it may stem from an infection triggering an autoimmune and/or autoinflammatory response in children who are genetically predisposed. No specific diagnostic...

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Keratoendotheliitis fugax hereditaria
Senin, 2026-02-23 13:40:16

Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin (also known as...

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Givinostat
Rabu, 2026-08-19 23:46:00

Crohn's disease, diffuse large B cell lymphoma (DLBCL), hereditary autoinflammatory diseases, Hodgkin's disease (Hodgkin lymphoma), juvenile rheumatoid...

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CRIA
Sabtu, 2025-11-29 01:41:13

Real and Puertollano CRIA syndrome (Cleavage-resistant RIPK1-induced autoinflammatory syndrome), a medical disorder This disambiguation page lists articles...

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Inflammatory cytokine
Senin, 2026-04-13 18:50:54

Ricardi M, Albertazzi V (January 2016). "Secondary amyloidosis in autoinflammatory diseases and the role of inflammation in renal damage". World Journal...

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Inflammasome
Kamis, 2026-08-13 01:36:25

rilonacept, and IL-18–binding protein, have been developed to treat autoinflammatory diseases like CAPS and other conditions where inflammasomes can be...

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TNF receptor associated periodic syndrome
Sabtu, 2026-05-30 06:45:50

Janet Austin, Office of Communications and Public (21 April 2017). "Autoinflammatory Diseases". www.niams.nih.gov. Archived from the original on 27 June...

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INPP5D
Sabtu, 2025-07-19 13:09:22

its low activity leads to autoinflammatory diseases. This knowledge is used in drug development. In the case of autoinflammatory diseases, there is an attempt...

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Eosinophilic granuloma
Selasa, 2026-06-23 03:14:20

reoccurring cases. Canine eosinophilic granuloma (CEG) is an extremely rare autoinflammatory state affecting primarily oral cavity and surrounding areas of transition...

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Diphenylcyclopropenone
Senin, 2026-04-27 21:46:19

downregulation of the autoimmune response at the hair follicle. This autoinflammatory reaction would otherwise destroy body's hair follicles. A study of...

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Idiopathic multicentric Castleman disease
Senin, 2026-08-10 10:23:27

diseases such as systemic lupus erythematous and rheumatoid arthritis. Autoinflammatory – A mutation in a gene controlling inflammatory systems may contribute...

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Anna Huttenlocher
Rabu, 2026-05-27 11:31:24

Translational Research for her project "Diagnosis and Treatment of Autoinflammatory Disease." Huttenlocher was the recipient of a 2011 WARF Kellett Mid-Career...

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Interleukin-1 family
Minggu, 2026-08-16 03:25:01

Dancey P, Frenkel J, van Royen-Kerkhoff A, et al. (June 2009). "An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist"....

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PTPN18
Senin, 2026-06-22 10:29:43

disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder". Human Molecular Genetics. 11 (8): 961–969. doi:10.1093/hmg/11...

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CARD (domain)
Minggu, 2026-07-26 17:06:27

"Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases". Cell. 117 (5): 561–74. doi:10.1016/j.cell.2004.05.004. PMID 15163405...

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PANoptosis
Selasa, 2026-08-11 17:08:12

Thirumala-Devi (2014-12-11). "Dietary modulation of the microbiome affects autoinflammatory disease". Nature. 516 (7530): 246–249. Bibcode:2014Natur.516..246L...

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Caspase recruitment domain-containing protein 8
Rabu, 2025-10-22 01:56:00

IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder". Immunity. 20 (3): 319–25. doi:10.1016/S1074-7613(04)00046-9...

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PLD3
Selasa, 2026-08-11 18:58:45

(October 2021). "Cleavage of DNA and RNA by PLD3 and PLD4 limits autoinflammatory triggering by multiple sensors". Nature Communications. 12 (1) 5874...

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NLRP12
Rabu, 2026-06-17 14:00:18

Brown SA, et al. (2015). "The NLRP12 Sensor Negatively Regulates Autoinflammatory Disease by Modulating Interleukin-4 Production in T Cells". Immunity...

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UBA1
Senin, 2026-03-02 15:01:11

clinical trials. An autoinflammatory condition identified in 2020 and named VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is due...

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ERAP1
Minggu, 2026-08-16 12:27:00

Reeves E, James E (September 2018). "The role of polymorphic ERAP1 in autoinflammatory disease". Bioscience Reports. 38 (4) BSR20171503. doi:10.1042/BSR20171503...

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NLRP1
Senin, 2026-01-26 21:42:41

2018). "Human DPP9 represses NLRP1 inflammasome and protects against autoinflammatory diseases via both peptidase activity and FIIND domain binding". The...

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PLAID syndrome
Selasa, 2025-09-30 05:09:52

in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet 91(4):713-720. doi: 10...

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Children's Medical Safety Research Institute
Rabu, 2025-12-17 01:23:57

Mark (2017-11-01). "Evidence Refuting the Existence of Autoimmune/Autoinflammatory Syndrome Induced by Adjuvants (ASIA)". The Journal of Allergy and Clinical...

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