When extended genetics rescues diagnosis: a patient with CANDLE-like phenotype and de novo mutation in the SAMD9L gene

Affiliations

¹ Pediatric Emergency, Infectious Diseases and Rheumatology Department, CHU Lille, University of Lille, Lille, France amandine_remy_57@hotmail.fr.
² Pediatric Rheumatology Department, Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), Bicêtre hospital, AP-HP, university of Paris Saclay, Le Kremlin-Bicêtre, France.
³ University of Paris Saclay, Paris, France.
⁴ Laboratory of Rare and Autoinflammatory Genetic Diseases and Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), CHU Montpellier, University of Montpellier, Montpellier, France.
⁵ Pathology Department Paris, France, CHU Necker-Enfants Malades, AP-HP, Paris, France.
⁶ Dermatology Department, CHU Lille, University of Lille, Lille, France.
⁷ Pediatric Emergency, Infectious Diseases and Rheumatology Department, CHU Lille, University of Lille, Lille, France.

Comment

Amandine Remy et al. Ann Rheum Dis. 2022 Mar.

. 2022 Mar;81(3):447-448.

doi: 10.1136/annrheumdis-2021-221486. Epub 2021 Nov 30.

¹ Pediatric Emergency, Infectious Diseases and Rheumatology Department, CHU Lille, University of Lille, Lille, France amandine_remy_57@hotmail.fr.
² Pediatric Rheumatology Department, Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), Bicêtre hospital, AP-HP, university of Paris Saclay, Le Kremlin-Bicêtre, France.
³ University of Paris Saclay, Paris, France.
⁴ Laboratory of Rare and Autoinflammatory Genetic Diseases and Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), CHU Montpellier, University of Montpellier, Montpellier, France.
⁵ Pathology Department Paris, France, CHU Necker-Enfants Malades, AP-HP, Paris, France.
⁶ Dermatology Department, CHU Lille, University of Lille, Lille, France.
⁷ Pediatric Emergency, Infectious Diseases and Rheumatology Department, CHU Lille, University of Lille, Lille, France.

No abstract available

Keywords: antirheumatic agents; biological therapy; inflammation; therapeutics.

Conflict of interest statement

Competing interests: None declared.

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Rusmini M, Federici S, Caroli F, Grossi A, Baldi M, Obici L, Insalaco A, Tommasini A, Caorsi R, Gallo E, Olivieri AN, Marzano A, Coviello D, Ravazzolo R, Martini A, Gattorno M, Ceccherini I. Rusmini M, et al. Ann Rheum Dis. 2016 Aug;75(8):1550-7. doi: 10.1136/annrheumdis-2015-207701. Epub 2015 Sep 17. Ann Rheum Dis. 2016. PMID: 26386126