A diffuse, pustular eruption in a neonate: Recognizing SAMD9L-associated autoinflammatory disease (SAAD).
genodermatoses
immunodeficiency
neonatal
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
12 Aug 2023
12 Aug 2023
Historique:
received:
10
05
2022
accepted:
22
07
2023
medline:
12
8
2023
pubmed:
12
8
2023
entrez:
12
8
2023
Statut:
aheadofprint
Résumé
A 3-week-old baby with hydrops fetalis, acute respiratory failure, and shock of unknown etiology developed a diffuse, pustular rash with worsening inflammatory markers and respiratory status despite antimicrobials. Whole exome sequencing revealed a de novo, frameshift mutation in the SAM9DL gene, leading to the diagnosis of SAMD9L-associated autoinflammatory disease.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.
Références
Russell AJ, Gray PE, Ziegler JB, et al. SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression. Proc Natl Acad Sci U S A. 2021;118(34):e2110190118.
Allenspach EJ, Soveg F, Finn LS, et al. Germline SAMD9L truncation variants trigger global translational repression. J Exp Med. 2021;218(5):e20201195. doi:10.1084/jem.20201195
Tesi B, Davidsson J, Voss M, et al. Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. Blood. 2017;129(16):2266-2279.
de Jesus AA, Hou Y, Brooks S, et al. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Invest. 2020;130(4):1669-1682.
Papa R, Rusmini M, Volpi S, et al. Progression of non-hematologic manifestations in SAMD9L-associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation. Pediatr Allergy Immunol. 2022;33(1):e13711.
Ahmed IA, Farooqi MS, Vander Lugt MT, et al. Outcomes of hematopoietic cell transplantation in patients with germline SAMD9/SAMD9L mutations. Biol Blood Marrow Transplant. 2019;25(11):2186-2196.