Novel compound heterozygous mutations in il-7 receptor α gene in a 15-month-old girl presenting with thrombocytopenia, normal t cell count and maternal engraftment

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Abstract

Patients with severe combined immunodeficiency (SCID) exhibit T lymphopenia and profound impairments in cellular and humoral immunity. IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated. Here, we reported an atypical and delayed onset of IL7Rα-SCID in a 15-month-old girl presenting with thrombocytopenia. Immunological investigations showed a normal lymphocyte count with isolated CD4-penia, absence of naïve T cells, marked hypergammaglobulinemia, and maternal T cell engraftment. Targeted next generation sequencing (NGS) revealed two novel compound heterozygous mutations in the IL-7Rα gene: c.160T>C (p.S54P) and c.245G>T (p.C82F). The atypical onset and the unusual immunological phenotype expressed by our patient highlights the diagnostic challenge in the field of primary immunodeficiencies (PID) and in particular in SCID patients where prompt diagnosis and therapy greatly affects survival.

Original languageEnglish
Article number2471
JournalFrontiers in Immunology
Volume10
Issue numberOCT
DOIs
Publication statusPublished - Jan 1 2019

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Severe Combined Immunodeficiency
Thrombocytopenia
Cell Count
Interleukin-7 Receptors
Mothers
Mutation
Genes
Hypergammaglobulinemia
T-Lymphocytes
Failure to Thrive
Lymphopenia
Opportunistic Infections
Lymphocyte Count
Humoral Immunity
Cellular Immunity
Phenotype
Survival
Mortality
Therapeutics

Keywords

  • Atypical onset
  • IL-7Rα gene
  • Maternal engraftment
  • Novel compound heterozygous mutations
  • SCID

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

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title = "Novel compound heterozygous mutations in il-7 receptor α gene in a 15-month-old girl presenting with thrombocytopenia, normal t cell count and maternal engraftment",
abstract = "Patients with severe combined immunodeficiency (SCID) exhibit T lymphopenia and profound impairments in cellular and humoral immunity. IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated. Here, we reported an atypical and delayed onset of IL7Rα-SCID in a 15-month-old girl presenting with thrombocytopenia. Immunological investigations showed a normal lymphocyte count with isolated CD4-penia, absence of na{\"i}ve T cells, marked hypergammaglobulinemia, and maternal T cell engraftment. Targeted next generation sequencing (NGS) revealed two novel compound heterozygous mutations in the IL-7Rα gene: c.160T>C (p.S54P) and c.245G>T (p.C82F). The atypical onset and the unusual immunological phenotype expressed by our patient highlights the diagnostic challenge in the field of primary immunodeficiencies (PID) and in particular in SCID patients where prompt diagnosis and therapy greatly affects survival.",
keywords = "Atypical onset, IL-7Rα gene, Maternal engraftment, Novel compound heterozygous mutations, SCID",
author = "Paola Zangari and Cristina Cifaldi and {Di Cesare}, Silvia and {Di Matteo}, Gigliola and Maria Chiriaco and Donato Amodio and Nicola Cotugno and {De Luca}, Maia and Cecilia Surace and Saverio Ladogana and Simone Gardini and Pietro Merli and Mattia Algeri and Paolo Rossi and Paolo Palma and Caterina Cancrini and Andrea Finocchi",
year = "2019",
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doi = "10.3389/fimmu.2019.02471",
language = "English",
volume = "10",
journal = "Frontiers in Immunology",
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T1 - Novel compound heterozygous mutations in il-7 receptor α gene in a 15-month-old girl presenting with thrombocytopenia, normal t cell count and maternal engraftment

AU - Zangari, Paola

AU - Cifaldi, Cristina

AU - Di Cesare, Silvia

AU - Di Matteo, Gigliola

AU - Chiriaco, Maria

AU - Amodio, Donato

AU - Cotugno, Nicola

AU - De Luca, Maia

AU - Surace, Cecilia

AU - Ladogana, Saverio

AU - Gardini, Simone

AU - Merli, Pietro

AU - Algeri, Mattia

AU - Rossi, Paolo

AU - Palma, Paolo

AU - Cancrini, Caterina

AU - Finocchi, Andrea

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Patients with severe combined immunodeficiency (SCID) exhibit T lymphopenia and profound impairments in cellular and humoral immunity. IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated. Here, we reported an atypical and delayed onset of IL7Rα-SCID in a 15-month-old girl presenting with thrombocytopenia. Immunological investigations showed a normal lymphocyte count with isolated CD4-penia, absence of naïve T cells, marked hypergammaglobulinemia, and maternal T cell engraftment. Targeted next generation sequencing (NGS) revealed two novel compound heterozygous mutations in the IL-7Rα gene: c.160T>C (p.S54P) and c.245G>T (p.C82F). The atypical onset and the unusual immunological phenotype expressed by our patient highlights the diagnostic challenge in the field of primary immunodeficiencies (PID) and in particular in SCID patients where prompt diagnosis and therapy greatly affects survival.

AB - Patients with severe combined immunodeficiency (SCID) exhibit T lymphopenia and profound impairments in cellular and humoral immunity. IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated. Here, we reported an atypical and delayed onset of IL7Rα-SCID in a 15-month-old girl presenting with thrombocytopenia. Immunological investigations showed a normal lymphocyte count with isolated CD4-penia, absence of naïve T cells, marked hypergammaglobulinemia, and maternal T cell engraftment. Targeted next generation sequencing (NGS) revealed two novel compound heterozygous mutations in the IL-7Rα gene: c.160T>C (p.S54P) and c.245G>T (p.C82F). The atypical onset and the unusual immunological phenotype expressed by our patient highlights the diagnostic challenge in the field of primary immunodeficiencies (PID) and in particular in SCID patients where prompt diagnosis and therapy greatly affects survival.

KW - Atypical onset

KW - IL-7Rα gene

KW - Maternal engraftment

KW - Novel compound heterozygous mutations

KW - SCID

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