ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen

Ashley Sang Eun Lee; Roshini S Abraham; Amrita Basu; Howard Lederman; Charlotte Cunningham-Rundles

doi:10.1016/j.clim.2024.110294

ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen

Clin Immunol. 2024 Aug:265:110294. doi: 10.1016/j.clim.2024.110294. Epub 2024 Jun 22.

Authors

Ashley Sang Eun Lee¹, Roshini S Abraham², Amrita Basu³, Howard Lederman⁴, Charlotte Cunningham-Rundles⁵

Affiliations

¹ Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: [email protected].
² Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: [email protected].
³ Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: [email protected].
⁴ Division of Allergy and Immunology, Johns Hopkins Children's Center, Baltimore, MD, USA. Electronic address: [email protected].
⁵ Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: [email protected].

PMID: 38914360
DOI: 10.1016/j.clim.2024.110294

No abstract available

Keywords: DNA double strand breaks; Gamma-H2AX; Lymphocytes; Lymphopenia; Phosphorylated ATM; Severe combined immunodeficiency; TREC; ataxia telangiectasia.

Publication types

Letter
Case Reports

MeSH terms

Ataxia Telangiectasia Mutated Proteins* / genetics
Ataxia Telangiectasia* / diagnosis
Ataxia Telangiectasia* / genetics
Female
Heterozygote*
Humans
Infant, Newborn
Male
Mutation*
Neonatal Screening*

Substances

Ataxia Telangiectasia Mutated Proteins
ATM protein, human