id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-304320-1oaobtlx	Lee, Pui Y.	Immune dysregulation and Multisystem Inflammatory Syndrome in Children (MIS-C) in individuals with haploinsufficiency of SOCS1	2020-08-25		.txt	text/plain	1374	119	57	One patient developed Multisystem Inflammatory Syndrome in Children (MIS-C) in the setting of a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Discussion Heterozygous loss-of-function SOCS1 mutations are associated with enhanced interferon signaling and increased immune cell activation, thereby predisposing to infection-associated autoimmune cytopenias. 2, 4 In a recent study detailing 88 outcomes of whole-genome sequencing for patients with primary immunodeficiency, SOCS1 89 haploinsufficiency was briefly described in two individuals with recurrent bacterial infections and 90 severe multi-systemic autoimmunity. Individuals with Evans syndrome (ES) present with immune thrombocytopenia (ITP), 93 autoimmune hemolytic anemia (AIHA), and/or immune neutropenia arising from either primary 94 or secondary causes. Patient 1 presented at five months of age with fever, otitis media, oral ulcers, and developed ITP (61 x 10 3 platelets/µL, normal 215-448 x 10 3 platelets/µL; Fig. 1A ). At two years 107 of age, in addition to ITP and immune neutropenia, he developed a warm antibody AIHA with a 108 hemoglobin of 4.4 g/dL (normal 10.5-13.0 g/dL).	./cache/cord-304320-1oaobtlx.txt	./txt/cord-304320-1oaobtlx.txt