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New syndromic combined immunodeficiency with severe neurodevelopmental defects caused by biallelic null variants in the PPM1D gene

Year: 2023

Type: article

Study design: Case Report

Source: Clinical Immunology

DOI: 10.1016/j.clim.2023.109588

Authors: Ana Esteve-Sole, Luis Ignacio González-Granado, Leticia Pias, Ana V Marin, Kate Brown, Roshini Abraham, Scott E Hickey, Colin L Sweeney, Cathryn L Haigh, Sergio Rosenzweig

Institutions: National Institutes of Health, National Institutes of Health Clinical Center, Research Institute Hospital 12 de Octubre, Hospital Universitario 12 De Octubre, Hospital Sant Joan de Déu Barcelona, Universidad Complutense de Madrid, National Cancer Institute, Center for Cancer Research, Nationwide Children's Hospital, The Ohio State University, National Institute of Allergy and Infectious Diseases, Rocky Mountain Laboratories

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4377695682

FWCI:

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