Comparison of clinical characteristics in primary immunodeficiency patients based on the presence of autoimmunity or autoinflammation. [PDF]
Allergy Asthma ProcKolak S +6 more
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Autoinflammation with infantile enterocolitis induced by a heterozygous variant (c.1357C > T) in the NLRC4 gene: a case report. [PDF]
Front PediatrWang X, Xiao Y, Ge T, Zhang T, Li X.
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NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders. [PDF]
Genes (Basel)Rosa B +10 more
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Neonatal Hydrops and Biliary Atresia as an Early Presentation of Mevalonate Kinase Deficiency: A Case Report. [PDF]
CureusAlmomani SA, Ponnambath HIC, Yahya A.
europepmc +1 more source
Serositis as possible manifestation in MDS/AML patients with complex karyotype and TP53 mutation: case series. [PDF]
Ann HematolGugole E +8 more
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Genetic And Epigenetic Determinants In Autoinflammatory Diseases
The concept of autoinflammation has evolved over the past 20 years, beginning with the discovery that mutations in the Mediterranean Fever (MEFV) gene were causative of Familial Mediterranean Fever.
Vento Tormo, Roser +2 more
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Anifrolumab to Treat Severe Hepatic Involvement in a De Novo IFIH1 Mutation. [PDF]
J Clin ImmunolRomano M +4 more
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