Results 131 to 140 of about 10,022 (165)

Clinical phenotype and laboratory markers in patients affected by haploinsufficiency of A20 (HA20): a case series from two Italian centres. [PDF]

RMD Open
De Nardi L, Federici S, De Martino E, Celani C, Girardelli M, Matteo V, Caiello I, Passarelli C, Perrone C, Prencipe G, Tesser A, Pin A, Pastore S, Bramuzzo M, De Benedetti F, Tommasini A, Insalaco A.   +16 more
europepmc   +1 more source

Irreversible Ocular and Systemic Damage in ROSAH Syndrome. [PDF]

Ophthalmol Ther
Fabiani C, Caggiano V, Sbalchiero J, Gaggiano C, Cardamone C, De Bernardo M, Giudice V, Moscato P, Rosa N, Lopalco G, Cantarini L, Vitale A.   +11 more
europepmc   +1 more source

Colchicine resistance prediction criteria from the TURPAID cohort do not apply to the JIR cohort: a multicentre descriptive analysis. [PDF]

RMD Open
Mertz P, Elhani I, Koné-Paut I, Dan D, Roque S, Theodoropoulou K, Pachlopnick Schmid J, Bader-Menier B, Belot A, Dumaine C, Kevorkian-Verguet C, Cavelot S, Georgin-Lavialle S, Hentgen V.   +13 more
europepmc   +1 more source

VEXAS Syndrome for the laboratory physician: a case report. [PDF]

Front Immunol
Chen C, Chen M, Chen T, Chen Y, Liu L, Zhu Y, Yi X, He S.   +7 more
europepmc   +1 more source

Allogeneic Hematopoietic Stem Cell Transplantation as a Therapeutic Approach for Hereditary Diseases. [PDF]

Biomedicines
Nagieva S, Smirnikhina S.
europepmc   +1 more source

Colchicine-Tolerant vs. Resistant Familial Mediterranean Fever: Comparative Analysis of Clinical, Psychosocial Characteristics and Quality of Life. [PDF]

J Clin Med
Kaya Z, Sag S, Kaya MN, Zontul S, Yolbas S.   +4 more
europepmc   +1 more source

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Hereditary systemic autoinflammatory diseases

Reumatología Clínica (English Edition), 2011
Systemic autoinflammatory diseases encompass different rare clinical entities characterized by recurrent acute inflammatory episodes secondary to a dysregulated inflammatory process. Since their first clinical descriptions, the Mendelian hereditary nature of some of them became evident, with their genetic and molecular basis being recently elucidated ...
Juan Ignacio Arostegui
exaly   +3 more sources