Rosaria Prencipe

Institute for Experimental Endocrinology and Oncology

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Claudio Pignata

Federico II University Hospital

Giuliana Giardino

Federico II University Hospital

Emilia Cirillo

University of Naples Federico II

Roberta Romano

Federico II University Hospital

Vera Gallo

Federico II University Hospital

Veronica De Rosa

Institute for Experimental Endocrinology and Oncology

Francesca Cillo

Federico II University Hospital

Elisabetta Toriello

University of Naples Federico II

Giulia Scalia

Ceinge Biotecnologie Avanzate (Italy)

Loredana Palamaro

University of Naples Federico II

Cooperative Institutions

Inserm

152

Centre National de la Recherche Scientifique

134

University of Michigan–Ann Arbor

127

Istituti di Ricovero e Cura a Carattere Scientifico

126

Harvard University

121

National Institutes of Health

University of Naples Federico II

Chinese Academy of Sciences

Federico II University Hospital

Sapienza University of Rome

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Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Frontiers in Immunology (2019)

Emilia Cirillo Caterina Cancrini Chiara Azzari Silvana Martino Baldassarre Martire

Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneity of the genetic basis, they are often difficult to recognize, leading to a significant diagnostic delay (DD). Aim of this study is to define presenting signs and natural history of SCID in a large cohort of patients, prior to hematopoietic stem cell or gene therapies. To this purpose, we conducted a 30-year retro-prospective multicenter study within the Italian Primary Immunodeficiency Network. 111 patients, diagnosed as typical or atypical SCID according to the European Society for Immune Deficiencies criteria, were included. Patients were subsequently classified based on the genetic alteration, pathogenic mechanism and immunological classification. A positive relationship between the age at onset and the DD was found. SCID patients with later onset were identified only in the last decade of observation. Syndromic SCIDs represented 28% of the cohort. Eight percent of the subjects were diagnosed in Intensive Care Units. Fifty-three percent had an atypical phenotype and most of them exhibited a discordant genotype-immunophenotype. Pre-treatment mortality was higher in atypical and syndromic patients. Our study broadens the knowledge of clinical and laboratory manifestations and genotype/phenotype correlation in patients with SCID and may facilitate the diagnosis of both typical and atypical forms of the disease in countries where newborn screening programs have not yet been implemented.

Primary Immunodeficiency

Immunophenotyping

10.3389/fimmu.2019.01908

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Citations (37)

Epigenetics: An opportunity to shape innate and adaptive immune responses

Immunology (2022)

Antonietta Liotti Anne Lise Ferrara Stefania Loffredo Maria Rosaria Galdiero Gilda Varricchi

Epigenetics connects genetic and environmental factors: it includes DNA methylation, histone post-translational modifications and the regulation of chromatin accessibility by non-coding RNAs, all of which control constitutive or inducible gene transcription. This plays a key role in harnessing the transcriptional programs of both innate and adaptive immune cells due to its plasticity and environmental-driven nature, piloting myeloid and lymphoid cell fate decisions with no change in their genomic sequence. In particular, epigenetic marks at the site of lineage-specific transcription factors and maintenance of cell type-specific epigenetic modifications, referred to as 'epigenetic memory', dictate cell differentiation, cytokine production and functional capacity following repeated antigenic exposure in memory T cells. Moreover, metabolic and epigenetic reprogramming occurring during a primary innate immune response leads to enhanced responses to secondary challenges, a phenomenon known as 'trained immunity'. Here, we discuss how stable and dynamic epigenetic states control immune cell identity and plasticity in physiological and pathological conditions. Dissecting the regulatory circuits of cell fate determination and maintenance is of paramount importance for understanding the delicate balance between immune cell activation and tolerance, in healthy conditions and in autoimmune diseases.

Reprogramming

Cell fate determination

Innate lymphoid cell

10.1111/imm.13571

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Citations (25)

CD4+ T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations

Frontiers in Immunology (2020)

Sara Bruzzaniti Emilia Cirillo Rosaria Prencipe Giuliana Giardino Maria Teresa Lepore

Mulibrey (muscle-liver-brain-eye) syndrome (MUL) is an autosomal recessive disorder caused by mutations in the TRIpartite motif (TRIM)37 gene, encoding for TRIM37 a member of the TRIM E3 ubiquitin ligase protein family. MUL patients are characterized by growth retardation, dysmorphic features and a wide range of abnormalities affecting different organs. However, T-cell abnormalities have not been observed in MUL subjects, to date. Here we described the immunological features of a MUL child carrying recently identified TRIM37 mutations, a 17q22 deletion of maternal origin combined with a TRIM37 variant of paternal origin. Here we found quantitative and functional defects in CD4+ T cells from this MUL case. Low levels of TRIM37 protein were specifically detected in CD4+ T cells of MUL patient and associated with their altered proliferation and cytokine production. Of note, both CD4+ and CD8+ T lymphocytes of MUL child displayed an effector memory phenotype compared with healthy children. This clinical case research highlighted the possible role of TRIM37 in the control of immune cell number and function, especially in CD4+ T cells. Finally, this study may open the way to novel mechanistic studies aim at identifying in depth the role of TRIM37 protein in the immune system.

10.3389/fimmu.2020.01742

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T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features

Frontiers in Immunology (2020)

Giuliana Giardino Carla Borzacchiello Martina De Luca Roberta Romano Rosaria Prencipe

Combined Immunodeficiencies (CID) are rare congenital disorders characterized by defective T-cell development that may be associated with B- and NK-cell deficiency. They are usually due to alterations in genes expressed in hematopoietic precursors but in few cases, they are caused by impaired thymic development. Athymia was classically associated with DiGeorge Syndrome due to TBX1 gene haploinsufficiency. Other genes, implicated in thymic organogenesis include FOXN1, associated with Nude SCID syndrome, PAX1, associated with Otofaciocervical Syndrome type 2, and CHD7, one of the genes implicated in CHARGE syndrome. More recently, chromosome 2p11.2 microdeletion, causing FOXI3 haploinsufficiency, has been identified in 5 families with impaired thymus development. In this review, we will summarize the main genetic, clinical and immunological features related to the abovementioned genes mutations. We will also focus on different therapeutic approaches to treat SCID in these patients.

Haploinsufficiency

DiGeorge syndrome

TBX1

10.3389/fimmu.2020.01837

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Citations (30)

Mechanisms of immune tolerance breakdown in inborn errors of immunity

Elsevier eBooks (2022)

Giuliana Giardino Emilia Cirillo Rosaria Prencipe Roberta Romano Francesca Cillo

Immune Dysregulation

10.1016/b978-0-323-85415-3.00019-2

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Citations (0)

Contributors

Elsevier eBooks (2022)

Ian M. Adcock Veronica Adiletta Ramapraba Appanna Carmen Busca Aleksandar Arsenijević

10.1016/b978-0-323-85415-3.09987-6

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Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels

Journal of Clinical Medicine (2020)

Vera Gallo Emilia Cirillo Rosaria Prencipe Alessio Lepore Luigi Del Vecchio

Very high IgM levels represent the hallmark of hyper IgM (HIGM) syndromes, a group of primary immunodeficiencies (PIDs) characterized by susceptibility to infections and malignancies. Other PIDs not fulfilling the diagnostic criteria for HIGM syndromes can also be characterized by high IgM levels and susceptibility to malignancies. The aim of this study is to characterize clinical phenotype, immune impairment, and pathogenic mechanism in six patients with very high IgM levels in whom classical HIGM syndromes were ruled out. The immunological analysis included extended B-cell immunophenotyping, evaluation of class switch recombination and somatic hypermutation, and next generation sequencing (NGS). Recurrent or severe infections and chronic lung changes at the diagnosis were reported in five out of six and two out of six patients, respectively. Five out of six patients showed signs of lymphoproliferation and four patients developed malignancies. Four patients showed impaired B-cell homeostasis. Class switch recombination was functional in vivo in all patients. NGS revealed, in one case, a pathogenic mutation in PIK3R1. In a second case, the ITPKB gene, implicated in B- and T-cell development, survival, and activity was identified as a potential candidate gene. Independent of the genetic basis, very high IgM levels represent a risk factor for the development of recurrent infections leading to chronic lung changes, lymphoproliferation, and high risk of malignancies.

Immunophenotyping

Immunoglobulin M

10.3390/jcm9030818

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Citations (7)

A case of incontinentia pigmenti associated with congenital absence of portal vein system and nodular regenerative hyperplasia

British Journal of Dermatology (2018)

Rosa Romano Fiorentino Grasso Vera Gallo Emilia Cirillo Rosaria Prencipe

Nodular regenerative hyperplasia

Incontinentia Pigmenti

Pigmentation disorder

10.1111/bjd.17319

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Citations (1)

[Pathogenesis of chronic periapical lesions. The microbiological and immunological aspects].

PubMed (1983)

Re G C Barlotta Rosaria Prencipe D Moniaci O Tolosano

Pathogenesis

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Complement system network in cell physiology and in human diseases

International Reviews of Immunology (2020)

Roberta Romano Giuliana Giardino Emilia Cirillo Rosaria Prencipe Claudio Pignata

The complement system is a multi-functional system representing the first line host defense against pathogens in innate immune response, through three different pathways. Impairment of its function, consisting in deficiency or excessive deregulated activation, may lead to severe systemic infections or autoimmune disorders. These diseases may be inherited or acquired. Despite many diagnostic tools are currently available, ranging from traditional, such as hemolytic or ELISA based assays, to innovative ones, like next generation sequencing techniques, these diseases are often not recognized. As for therapeutic aspects, strategies based on the use of targeted drugs are now widespread. The aim of this review is to present an updated overview of complement system pathophysiology, clinical implications of its dysfunction and to summarize diagnostic and therapeutic approaches.

Complement

10.1080/08830185.2020.1833877

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Citations (14)