Maria C. Giarratana

Genoa, Italy

Last Updated: 09/26/2026

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Found 14 publications

Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell function.

Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell function.

Journal: medRxiv : the preprint server for health sciences

Published: July 30, 2026

Case Report: Functional characterization of lymphocyte populations in a pediatric patient with WHIM syndrome.

Case Report: Functional characterization of lymphocyte populations in a pediatric patient with WHIM syndrome.

Journal: Frontiers in immunology

Published: April 03, 2026

Case Report: Sirolimus as management strategy for thrombocytopenia related to ARPC1B deficiency.

Case Report: Sirolimus as management strategy for thrombocytopenia related to ARPC1B deficiency.

Journal: Frontiers in immunology

Published: April 01, 2026

Impact of CSF3R Mutations on Leukemic Transformation in Severe Congenital Neutropenia: A Retrospective Analysis From the Italian Neutropenia Registry.

Impact of CSF3R Mutations on Leukemic Transformation in Severe Congenital Neutropenia: A Retrospective Analysis From the Italian Neutropenia Registry.

Journal: American journal of hematology

Published: December 10, 2025

Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing.

Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing.

Journal: The journal of allergy and clinical immunology. In practice

Published: July 27, 2025

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

Journal: International journal of molecular sciences

Published: June 17, 2025

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Journal: International journal of molecular sciences

Published: June 11, 2025

Application of machine learning in the diagnostic work-up of telomere biology disorders.

Application of machine learning in the diagnostic work-up of telomere biology disorders.

Journal: HemaSphere

Published: February 12, 2025

Infection risk in patients with autoimmune cytopenias and immune dysregulation treated with mycophenolate mofetil and sirolimus.

Infection risk in patients with autoimmune cytopenias and immune dysregulation treated with mycophenolate mofetil and sirolimus.

Journal: Frontiers in immunology

Published: April 10, 2024

Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).

Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).

Journal: Blood cells, molecules & diseases

Published: February 15, 2024

Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.

Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.

Journal: International journal of molecular sciences

Published: December 12, 2023

Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders.

Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders.

Journal: American journal of hematology

Published: September 26, 2023

Showing 1-12 of 14

Last Updated: 09/26/2026