Gigliola Di Matteo

Rome, Italy

Last Updated: 09/26/2026

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Found 69 publications

Unexpected genetically determined immune dysregulation with liver involvement: GIMAP5 therapeutic dilemmas between targeted therapy and HSCT.

Unexpected genetically determined immune dysregulation with liver involvement: GIMAP5 therapeutic dilemmas between targeted therapy and HSCT.

Journal: Frontiers in immunology

Published: February 28, 2026

Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome.

Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome.

Journal: Frontiers in immunology

Published: February 27, 2026

Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision.

Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision.

Journal: Journal of human immunity

Published: August 11, 2025

Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.

Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.

Journal: Journal of clinical medicine

Published: December 09, 2024

Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature review.

Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature review.

Journal: Pediatrics and neonatology

Published: November 04, 2024

Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for diagnosing inborn errors of immunity.

Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for diagnosing inborn errors of immunity.

Journal: The Journal of allergy and clinical immunology

Published: July 22, 2024

IPINeT Ped-unPAD Study: Goals, Design, and Preliminary Results.

IPINeT Ped-unPAD Study: Goals, Design, and Preliminary Results.

Journal: Journal of clinical medicine

Published: June 25, 2024

The dilemma of X-linked agammaglobulinemia carriers.

The dilemma of X-linked agammaglobulinemia carriers.

Journal: The journal of allergy and clinical immunology. Global

Published: May 31, 2024

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

Journal: Nature communications

Published: April 29, 2024

Natural history of Ras-associated autoimmune leukoproliferative disorder: A 20-year follow-up of a NRAS-mutated patient excluding a malignant progression.

Natural history of Ras-associated autoimmune leukoproliferative disorder: A 20-year follow-up of a NRAS-mutated patient excluding a malignant progression.

Journal: British journal of haematology

Published: September 22, 2023

Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.

Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.

Journal: Frontiers in genetics

Published: August 18, 2023

The Evolutionary Scenario of Pediatric Unclassified Primary Antibody Deficiency to Adulthood.

The Evolutionary Scenario of Pediatric Unclassified Primary Antibody Deficiency to Adulthood.

Journal: Journal of clinical medicine

Published: May 17, 2023

Showing 1-12 of 69

Last Updated: 09/26/2026