Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion

Claudio Pignata, Antonio D'Agostino, Palma Finelli, Michele Fiore, Immaculata Scotese, Elena Cosentini, Cristina Cuomo, Salvatore Venuta

Research output: Contribution to journalArticle

Abstract

We report on a 8-year-old patient affected by a selective T cell defect associated with mental retardation and dysmorphic signs. At birth thymic aplasia and hypoparathyroidism were noted, suggesting a DiGeorge-like anomaly. The immunological evaluation during the 8 years follow-up revealed a progressive decrease of CD3+CD4+ lymphocytes, which paralleled deficiencies of blood T cells. Chromosome analysis using GTL banding revealed an interstitial deletion of the short arm of chromosome 10. We next investigated whether the expression of IL-2R α chain and Nil-2-a genes, which are located on the short arm of chromosome 10, was affected by the deletion. Transcription of these two genes was normal, thus suggesting that the two regions were preserved. In situ hybridization studies with the painting libraries #G3A7 and #G9 confirmed that the two regions were preserved and allowed us to define the breakpoint as 10p12-10p13. Due to the similarities between DiGeorge and 10p syndromes, we suggest that the 10p13-10p12 region contains a gene(s) potentially related to gene products of the 22q11 region, frequently altered in patients with DiGeorge.

Original languageEnglish
Pages (from-to)9-15
Number of pages7
JournalClinical Immunology and Immunopathology
Volume80
Issue number1
DOIs
Publication statusPublished - Jul 1996

Fingerprint

DiGeorge Syndrome
Blood Cells
Chromosomes, Human, Pair 10
T-Lymphocytes
vif Genes
Genes
Hypoparathyroidism
Paintings
Intellectual Disability
Libraries
In Situ Hybridization
Chromosomes
Parturition
Lymphocytes
ZAP70 deficiency
Thymic aplasia

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Pathology and Forensic Medicine

Cite this

Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion. / Pignata, Claudio; D'Agostino, Antonio; Finelli, Palma; Fiore, Michele; Scotese, Immaculata; Cosentini, Elena; Cuomo, Cristina; Venuta, Salvatore.

In: Clinical Immunology and Immunopathology, Vol. 80, No. 1, 07.1996, p. 9-15.

Research output: Contribution to journalArticle

Pignata, C, D'Agostino, A, Finelli, P, Fiore, M, Scotese, I, Cosentini, E, Cuomo, C & Venuta, S 1996, 'Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion', Clinical Immunology and Immunopathology, vol. 80, no. 1, pp. 9-15. https://doi.org/10.1006/clin.1996.0088
Pignata, Claudio ; D'Agostino, Antonio ; Finelli, Palma ; Fiore, Michele ; Scotese, Immaculata ; Cosentini, Elena ; Cuomo, Cristina ; Venuta, Salvatore. / Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion. In: Clinical Immunology and Immunopathology. 1996 ; Vol. 80, No. 1. pp. 9-15.
@article{a2634006e00848f6a81f3478cfe491ca,
title = "Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion",
abstract = "We report on a 8-year-old patient affected by a selective T cell defect associated with mental retardation and dysmorphic signs. At birth thymic aplasia and hypoparathyroidism were noted, suggesting a DiGeorge-like anomaly. The immunological evaluation during the 8 years follow-up revealed a progressive decrease of CD3+CD4+ lymphocytes, which paralleled deficiencies of blood T cells. Chromosome analysis using GTL banding revealed an interstitial deletion of the short arm of chromosome 10. We next investigated whether the expression of IL-2R α chain and Nil-2-a genes, which are located on the short arm of chromosome 10, was affected by the deletion. Transcription of these two genes was normal, thus suggesting that the two regions were preserved. In situ hybridization studies with the painting libraries #G3A7 and #G9 confirmed that the two regions were preserved and allowed us to define the breakpoint as 10p12-10p13. Due to the similarities between DiGeorge and 10p syndromes, we suggest that the 10p13-10p12 region contains a gene(s) potentially related to gene products of the 22q11 region, frequently altered in patients with DiGeorge.",
author = "Claudio Pignata and Antonio D'Agostino and Palma Finelli and Michele Fiore and Immaculata Scotese and Elena Cosentini and Cristina Cuomo and Salvatore Venuta",
year = "1996",
month = "7",
doi = "10.1006/clin.1996.0088",
language = "English",
volume = "80",
pages = "9--15",
journal = "Clinical Immunology and Immunopathology",
issn = "0090-1229",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion

AU - Pignata, Claudio

AU - D'Agostino, Antonio

AU - Finelli, Palma

AU - Fiore, Michele

AU - Scotese, Immaculata

AU - Cosentini, Elena

AU - Cuomo, Cristina

AU - Venuta, Salvatore

PY - 1996/7

Y1 - 1996/7

N2 - We report on a 8-year-old patient affected by a selective T cell defect associated with mental retardation and dysmorphic signs. At birth thymic aplasia and hypoparathyroidism were noted, suggesting a DiGeorge-like anomaly. The immunological evaluation during the 8 years follow-up revealed a progressive decrease of CD3+CD4+ lymphocytes, which paralleled deficiencies of blood T cells. Chromosome analysis using GTL banding revealed an interstitial deletion of the short arm of chromosome 10. We next investigated whether the expression of IL-2R α chain and Nil-2-a genes, which are located on the short arm of chromosome 10, was affected by the deletion. Transcription of these two genes was normal, thus suggesting that the two regions were preserved. In situ hybridization studies with the painting libraries #G3A7 and #G9 confirmed that the two regions were preserved and allowed us to define the breakpoint as 10p12-10p13. Due to the similarities between DiGeorge and 10p syndromes, we suggest that the 10p13-10p12 region contains a gene(s) potentially related to gene products of the 22q11 region, frequently altered in patients with DiGeorge.

AB - We report on a 8-year-old patient affected by a selective T cell defect associated with mental retardation and dysmorphic signs. At birth thymic aplasia and hypoparathyroidism were noted, suggesting a DiGeorge-like anomaly. The immunological evaluation during the 8 years follow-up revealed a progressive decrease of CD3+CD4+ lymphocytes, which paralleled deficiencies of blood T cells. Chromosome analysis using GTL banding revealed an interstitial deletion of the short arm of chromosome 10. We next investigated whether the expression of IL-2R α chain and Nil-2-a genes, which are located on the short arm of chromosome 10, was affected by the deletion. Transcription of these two genes was normal, thus suggesting that the two regions were preserved. In situ hybridization studies with the painting libraries #G3A7 and #G9 confirmed that the two regions were preserved and allowed us to define the breakpoint as 10p12-10p13. Due to the similarities between DiGeorge and 10p syndromes, we suggest that the 10p13-10p12 region contains a gene(s) potentially related to gene products of the 22q11 region, frequently altered in patients with DiGeorge.

UR - http://www.scopus.com/inward/record.url?scp=0030199636&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030199636&partnerID=8YFLogxK

U2 - 10.1006/clin.1996.0088

DO - 10.1006/clin.1996.0088

M3 - Article

C2 - 8674245

AN - SCOPUS:0030199636

VL - 80

SP - 9

EP - 15

JO - Clinical Immunology and Immunopathology

JF - Clinical Immunology and Immunopathology

SN - 0090-1229

IS - 1

ER -