Results 191 to 200 of about 171,535 (264)

Not getting the nod: The case against Yao syndrome. [PDF]

J Hum Immun
Gray PE, Masters SL, Kirk EP.
europepmc   +1 more source

Revisiting down syndrome through the lens of interferonopathy and innate immune dysregulation. [PDF]

Front Immunol
Wang G, Shi W, Liao S, Hao B.
europepmc   +1 more source

VEXAS syndrome with atypical presentation: A case report and review of eosinophils in cutaneous biopsies. [PDF]

JAAD Case Rep
Tang M, Oliva R, Nisar N, Menge T.
europepmc   +1 more source

Extensive reactive cutaneous histiocytic infiltrate resembling non-Langerhans cell histiocytosis as the presenting sign of underlying vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome

JAAD Case Reports
Cynthia X. Wang, MD, MPHS, Christine C. Yokoyama, MD, PhD, Ilana S. Rosman, MD, Amy C. Musiek, MD   +3 more
doaj   +1 more source

A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood. [PDF]

Genes (Basel)
Kumar V, de Saint-Aubain CJ, Konstantinov KN.   +2 more
europepmc   +1 more source

The First Reported Case of VEXAS Syndrome in Lebanon: Efficacy of Azacitidine as a Therapeutic Option-Case Report. [PDF]

Case Rep Hematol
Issa R, Akiki B, Georgin-Lavialle S, Kosmider O, Hammond D, Massoud M, Najjar V, Dagher E.   +7 more
europepmc   +1 more source

Idiopathic recurrent pericarditis in children: a tertiary care cohort highlighting the emergence and effectiveness of interleukin-1 blockade. [PDF]

Eur J Pediatr
Gunalp A, Akay N, Kirali M, Torunoglu Z, Aslan E, Gul U, Konte EK, Senturk NGK, Yildiz M, Haslak F, Adrovic A, Sahin S, Barut K, Dedeoglu R, Kasapcopur O.   +14 more
europepmc   +1 more source

Commentary: Anti-endothelial cell antibodies in pathogenesis of vasculitis. [PDF]

Front Immunol
Xie J, Shi L, Wang L, Dai J.
europepmc   +1 more source

A rare case of PAPASH syndrome with a NOD2 mutation. [PDF]

JAAD Case Rep
Shaked Y, Pulumati A, Kucharik AH, Fourzali K, Hawkins CN, Thomley M.   +5 more
europepmc   +1 more source

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