Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome

Efimova, E. Y.; Mukhina, A. A.; Balinova, Natalia V.; Matulevich, S. A.; Pershin, Dmitriy; Khoreva, A.; Marakhonov, Andrey V.; Воронин, С. В.; Зинченко, Р. А.; Shcherbina, Anna; Куцев, С. И.

doi:10.24287/1726-1708-2022-21-4-158-162

Voprosy gematologii/onkologii i immunopatologii v pediatrii

2022

DOI: 10.24287/1726-1708-2022-21-4-158-162

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Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome

E. Y. Efimova

A. A. Mukhina

Natalia V. Balinova

et al.

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2024

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A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC

Marakhonov,

Serebryakova,

Mukhina

et al. 2024

IJMS

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The expanded newborn screening (NBS) program in the Russian Federation was initiated in 2023, among which severe combined immunodeficiency (SCID) is screened using TREC/KREC assays. Here, we report a rare case of a TP63-associated disease identified through this NBS program. Dried blood spots from newborns were initially screened for TREC/KREC levels, and those with values below the cut-off underwent confirmatory testing and further genetic analysis, including whole-exome sequencing (WES). A male newborn was identified with significantly reduced TREC values, indicative of T cell lymphopenia. Genetic analysis revealed a heterozygous NM_003722.5:c.1027C>T variant in TP63, leading to the p.(Arg343Trp) substitution within the DNA binding domain. This mutation has been previously associated with Ectrodactyly–Ectodermal Dysplasia–Cleft lip/palate syndrome (EEC) syndrome and shown to reduce the transactivation activity of TP63 in a dominant-negative manner. This case represents one of the few instances of immune system involvement in a patient with a TP63 mutation, highlighting the need for further investigation into the immunological aspects of TP63-associated disorders. Our findings suggest that comprehensive immunological evaluation should be considered for patients with TP63 mutations to better understand and manage potential immune dysfunctions.

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A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC

Marakhonov,

Serebryakova,

Mukhina

et al. 2024

IJMS

View full text Add to dashboard Cite

show abstract

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Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome

Cited by 1 publication

References 15 publications

A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC

A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC

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