A5010348087- Congenital gastrointestinal and neural anomalies
- Immunodeficiency and Autoimmune Disorders
- Inflammasome and immune disorders
- IL-33, ST2, and ILC Pathways
- Diabetes and associated disorders
- Blood disorders and treatments
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Hedgehog Signaling Pathway Studies
- Cancer-related molecular mechanisms research
- Intestinal Malrotation and Obstruction Disorders
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Hereditary Neurological Disorders
- Neonatal Respiratory Health Research
- Genomics and Phylogenetic Studies
- RNA Research and Splicing
- Cancer Genomics and Diagnostics
- Systemic Lupus Erythematosus Research
- Psoriasis: Treatment and Pathogenesis
- Neurological diseases and metabolism
- Systemic Sclerosis and Related Diseases
- Congenital heart defects research
- Digestive system and related health
- Genetics and Neurodevelopmental Disorders
Istituto Giannina Gaslini
2015-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2023
Italian Institute of Technology
2021
University of Genoa
2013
Humanitas University
2013
The association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) has recently been described suggested to be a new entity within the spectrum autoinflammatory syndromes, which are characterized by recurrent episodes sterile inflammation, without circulating autoantibodies autoreactive T-cells. We conducted an observational study on 5 patients with PASH syndrome, analyzing their clinical features, genetic profile 10 genes already known involved in diseases (AIDs), cytokine...
<h3>Objectives</h3> Systemic auto-inflammatory disorders (SAIDs) are a heterogeneous group of monogenic diseases sharing primary dysfunction the innate immune system. More than 50% patients with SAID does not show any mutation at gene(s) tested because lack precise clinical classification criteria and/or incomplete gene screening. To improve molecular diagnosis and genotype interpretation SAIDs, we undertook development next-generation sequencing (NGS)-based protocol designed to simultaneous...
The number of innate immune system disorders classified as systemic autoinflammatory diseases (SAID) has increased in recent years. More than 70% patients with clinical manifestations SAID did not receive a molecular diagnosis, thus being classed so-called undifferentiated or undefined (uSAID). aim the present study was to evaluate next-generation sequencing (NGS)-based clinically oriented protocol uSAID.We designed NGS panel that included 41 genes clustered seven subpanels. Patients uSAID...
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity global developmental delays, sometimes complicated by episodes respiratory decompensation. Variants included bona fide...
Hirschsprung disease (HSCR) is a rare congenital anomaly characterized by the absence of enteric ganglia in distal intestinal tract. While classified as multigenic disorder, altered function RET tyrosine kinase receptor responsible for majority pathogenesis HSCR. Recent evidence demonstrate strong association between and homeostasis immune system. Here, we utilize unique cohort fifty HSCR patients to fully characterize expression on both innate (monocytes Natural Killer lymphocytes) adaptive...
Next-generation sequencing (NGS) is a cost-effective technology capable of screening several genes simultaneously; however, its application in clinical context requires an established workflow to acquire reliable results. Here, we report optimized NGS analyzing 22 lung cancer-related sequence critical samples such as DNA from formalin-fixed paraffin-embedded (FFPE) blocks and circulating free (cfDNA). Snap frozen matched FFPE gDNA 12 non-small cell cancer (NSCLC) patients, whose...
Beukes hip dysplasia is an autosomal dominant disease which has to date been described only in a large South African family of Dutch origin. The patients presented with progressive epiphyseal limited femoral capital epiphysis and their height was not significantly reduced. A unique variant the ubiquitin‐fold modifier 1 (Ufm1)‐specific peptidase 2 ( UFSP2 ) gene (c.868T>C) reported all individuals from clinical radiological diagnosis dysplasia. Three individuals, propositus, mother,...
Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) is a rare condition associated with plaque-type psoriasis, generalized pustular palmoplantar psoriasis and pityriasis rubra pilaris. Recently, new CARD14 –associated phenotype defined as CAPE (CARD14-associated papulosquamous eruption) clinical features both pilaris was reported. We describe carrying novel heterozygous mutation gene, childhood-onset erythrodermic requiring an unusual...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-associated disease 2019 (COVID-19) pandemic has been the subject of a large number studies in recent times. Here, starting from evidence that Italy, areas with lowest COVID-19 cases were those highest incidence malaria early 1900's, we explore possible inverse relationships between and COVID-19. Indeed, some genetic variants, which have demonstrated to give an advantage against malaria, can also play role severity SARS-CoV-2...
// Paola Griseri 1 , Ornella Garrone 2 Alessandra Lo Sardo Martino Monteverde 3 Marta Rusmini Federica Tonissi Marco Merlano Paolo Bruzzi 4 Cristiana Nigro 3, * Isabella Ceccherini 1, UOC Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy Unit of Oncology, Department S. Croce & Carle Teaching Hospital, Cuneo, Laboratory Cancer Genetics and Translational Clinical Epidemiology, AUO San IST, These authors have contributed equally to this work Correspondence to: Ceccherini, email:...
Primary immunodeficiencies with selective susceptibility to EBV infection are rare conditions associated severe lymphoproliferation. We followed a patient, son of consanguineous parents, referred our center for recurrent periodic episodes fever tonsillitis and adenitis started after an infectious mononucleosis responsive oral steroid. An initial diagnosis fever, aphthous stomatitis, pharyngitis, cervical syndrome was done. In the following months, respiratory infections keratitis were also...
Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is a rare, life-threatening, pediatric disorder of unknown etiology, whose diagnosis made difficult by poor knowledge clinical manifestation, lack any confirmatory tests. Children ROHHAD usually present rapid onset weight gain which may be followed, over months or years, hypothalamic hypoventilation, autonomic including impaired bowel motility, tumors neural crest origin. Despite the...
RET is a gene playing key role during embryogenesis and in particular the enteric nervous system development. High levels of expression are maintained different human tissues also adulthood, although their physiological remains unclear. In particular, collected evidences contribution development maintenance immune prompted us to investigate its surface on peripheral blood mononuclear cells (PBMCs) from adult healthy donors. Despite variability among samples, was conserved at similar cell...
Hirschsprung disease (HSCR, OMIM 142623) involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. HSCR is a multifactorial disorder; pathogenetic variants accounting for phenotype are identified only in minority cases, the identification novel disease-relevant genes remains challenging. In order to identify validate potential disease-causing relevance candidate genes, we established complementary...
Cartilage-hair hypoplasia (CHH) is a syndromic immunodeficiency characterized by metaphyseal dysplasia, cancer predisposition, and varying degrees of anemia. It may present as severe combined in infancy, or slowly progress until fully manifesting late adolescence/adulthood. No targeted treatment currently available, patients are usually managed with supportive measures, offered bone marrow transplant if the clinical phenotype suitable donor available. We report case young girl presenting...
Hirschsprung disease (HSCR) is a rare congenital anomaly characterized by the absence of enteric ganglia in distal intestinal tract.While classified as multigenic disorder, altered function RET tyrosine kinase receptor responsible for majority pathogenesis HSCR.Recent evidence demonstrate strong association between and homeostasis immune system.Here, we utilize unique cohort fifty HSCR patients to fully characterize expression on both innate (monocytes Natural Killer lymphocytes) adaptive (B...