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Start Over Author "Moratto, D" Journal immunology letters
3 results on '"Moratto, D"'

2. Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen

Author

Ma Pelagatti, Silvia Giliani, Francesco Saettini, Daniele Moratto, Raffaele Badolato, Andrea Biondi, D Sala, Saettini, F, Pelagatti, M, Sala, D, Moratto, D, Giliani, S, Badolato, R, and Biondi, A

Subjects
0301 basic medicine, Pathology, Immunoglobulin D, Hypogammaglobulinemia, Phosphatidylinositol 3-Kinases, T-Lymphocyte Subsets, Early Diagnosi, Respiratory Tract Infection, Immunology and Allergy, Sirolimu, Otitis, Respiratory Tract Infections, Class I Phosphatidylinositol 3-Kinase, Immunologic Deficiency Syndrome, biology, Lymphoproliferation, medicine.anatomical_structure, Child, Preschool, Female, Perisistant EBV viremia, medicine.symptom, Human, medicine.medical_specialty, Class I Phosphatidylinositol 3-Kinases, Primary Immunodeficiency Diseases, T cell, Immunology, B-Lymphocyte Subsets, Spleen, 03 medical and health sciences, Immune system, Lymphopenia, medicine, Humans, PI3Kδ syndrome, B-Lymphocyte Subset, Sirolimus, business.industry, Immunologic Deficiency Syndromes, medicine.disease, Otiti, Lymphoma, Early Diagnosis, 030104 developmental biology, P110δ, Mutation, Splenomegaly, biology.protein, Phosphatidylinositol 3-Kinase, business
Abstract

Heterozygous gain of function mutations in the gene encoding p110δ subunit of PI3K have been recently associated with activated PI3K-δ syndrome (APDS), a novel combined immune deficiency characterized by recurrent sinopulmonary infections, lymphopenia, reduced class-switched memory B cells, lymphadenopathy, CMV and/or EBV viremia and EBV-related lymphoma. Here we report a dominant gain of function PIK3CD mutation (E1021K) in a patient presenting with recurrent otitis media, massive splenomegaly, and persistent EBV-viraemia. The immunological studies showed low IgA level, but normal IgM, IgG, and normal antibody response to diphtheria and tetanus toxoid vaccination. Analysis of B lymphocyte subsets revealed abnormal expansion of transitional B cells, and low percentage of switched CD27+IgD− and CD27+IgD+ memory B cells. Analysis of T cell compartment unveiled prevalence of terminally differentiated cells. This study suggests that PIK3CD gain of function mutations should be suspected despite incomplete phenotype in patients with early onset splenomegaly, persistent EBV viremia and abnormal B and T cell subsets despite normal IgG levels. Currently the optimal treatment is still debated, but prompt management can hopefully diminish incidence of severe long-lasting sequelae (i.e. bronchiectasis, ear and sinus damage).

Published
2017

3. Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

Author

Tripodi SI, Mazza C, Moratto D, Ramenghi U, Caorsi R, Gattorno M, and Badolato R

Subjects
Autoimmune Lymphoproliferative Syndrome genetics, Cell Proliferation, Child, Humans, Lymphadenopathy, Male, Penetrance, Quantitative Trait, Heritable, Receptors, Antigen, T-Cell, alpha-beta metabolism, Skin microbiology, Skin pathology, Stomatitis, Aphthous, Autoimmune Lymphoproliferative Syndrome immunology, Caspase 10 genetics, Infections immunology, Skin immunology, T-Lymphocytes immunology
Abstract

Herein we describe the case of a 8-years-old boy with diagnosis of atypical autoimmune lymphoproliferative syndrome (ALPS), carrying heterozygous mutation of CASP10 gene (I406L). He presented with multiple non-invasive infections of the skin, that were associated to chronic non-malignant non-infectious lymphadenopathy, failure to thrive, weakness, arthralgia, relapsing oral aftosis, and expansion of TCRαβ(+) CD4(-)/CD8(-) T cells. This observation suggests that cutaneous infections can be observed in ALPS patients carrying CASP10 mutations., (Copyright © 2016 European Federation of Immunological Societies. Published by Elsevier B.V. All rights reserved.)

Published
2016
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