Literature DB >> 177938

The "torch syndrome.

Y H Shin, L Glass, H E Evans.   

Abstract

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Mesh：

Year:  1976        PMID： 177938     DOI： 10.3928/0090-4481-19760201-11

Source DB:  PubMed          Journal:  Pediatr Ann        ISSN： 0090-4481            Impact factor:   1.132


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  2 in total

1.  Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Authors:  Marije E C Meuwissen; Rachel Schot; Sofija Buta; Grétel Oudesluijs; Sigrid Tinschert; Scott D Speer; Zhi Li; Leontine van Unen; Daphne Heijsman; Tobias Goldmann; Maarten H Lequin; Johan M Kros; Wendy Stam; Mark Hermann; Rob Willemsen; Rutger W W Brouwer; Wilfred F J Van IJcken; Marta Martin-Fernandez; Irenaeus de Coo; Jeroen Dudink; Femke A T de Vries; Aida Bertoli Avella; Marco Prinz; Yanick J Crow; Frans W Verheijen; Sandra Pellegrini; Dusan Bogunovic; Grazia M S Mancini
Journal:  J Exp Med       Date:  2016-06-20       Impact factor: 14.307

Review 2.  Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity.

Authors:  Jérôme Hadjadj; Marie-Louise Frémond; Bénédicte Neven
Journal:  Front Immunol       Date:  2021-09-17       Impact factor: 7.561
  2 in total

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