A diffuse, pustular eruption in a neonate: Recognizing <scp>SAMD9L</scp>‐associated autoinflammatory disease (<scp>SAAD</scp>)-Reference-Cited by-同舟云学术

A diffuse, pustular eruption in a neonate: Recognizing SAMD9L‐associated autoinflammatory disease (SAAD)

Published:2023-08-12 Issue:1 Volume:41 Page:112-114
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Miller Melanie M.¹^ORCID,Rowe Georgina¹^ORCID,O'Brien Kathleen¹,Kim Gene¹,Luu Minnelly¹²^ORCID

Affiliation:

1. Department of Dermatology, Keck School of Medicine University of Southern California Los Angeles California USA

2. Department of Dermatology Children's Hospital Los Angeles Los Angeles California USA

Abstract

AbstractA 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.

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15411

Reference6 articles.

1. SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression

2. Germline SAMD9L truncation variants trigger global translational repression

3. Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

4. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

5. Progression of non‐hematologic manifestations in SAMD9L‐associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation