Maria Chiriaco

Rome, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 36 publications

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

Novel Beta Lactam Antibiotics for the Treatment of Multidrug-Resistant Gram-Negative Infections in Children: A Narrative Review.

Novel Beta Lactam Antibiotics for the Treatment of Multidrug-Resistant Gram-Negative Infections in Children: A Narrative Review.

Journal: Microorganisms

Published: May 30, 2023

Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype.

Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype.

Journal: Clinical immunology (Orlando, Fla.)

Published: December 12, 2022

Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.

Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.

Journal: Human genomics

Published: July 09, 2022

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

Journal: Frontiers in immunology

Published: April 13, 2022

Main human inborn errors of immunity leading to fungal infections.

Main human inborn errors of immunity leading to fungal infections.

Journal: Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases

Published: February 03, 2022

Corrigendum: Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient.

Corrigendum: Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient.

Journal: Frontiers in pediatrics

Published: August 11, 2021

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.

Journal: Journal of clinical immunology

Published: June 01, 2021

Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.

Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.

Journal: Journal of clinical immunology

Published: May 26, 2021

Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept.

Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept.

Journal: European journal of gastroenterology & hepatology

Published: May 25, 2021

Case Report: EBV Chronic Infection and Lymphoproliferation in Four APDS Patients: The Challenge of Proper Characterization, Therapy, and Follow-Up.

Case Report: EBV Chronic Infection and Lymphoproliferation in Four APDS Patients: The Challenge of Proper Characterization, Therapy, and Follow-Up.

Journal: Frontiers in pediatrics

Published: April 30, 2021

Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient.

Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient.

Journal: Frontiers in pediatrics

Published: April 29, 2021

Showing 1-12 of 36

Last Updated: 09/26/2026