Alessandro Plebani

Italian Journal of Anatomy and Embryology - contenuto non piu disponibile

Giovanna Tabellini, Sonia Caracciolo, Ornella Patrizi, Marzia Benassi et autres

DOCK8-deficiency is an autosomal recessive primary immunodeficiency that is characterized by multiple abnormalities of the immune system, including a defect of NK cell cytotoxicity which could not be restored after IL2 stimulation. Nevertheless, unanswered questions remain regarding how the absence of DOCK8 …

Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients

Antonios Gkantaras, ESID Registry Working Party, Dalia Abd Elaziz, Sohilla Lofty M. Abdelkader et autres

Diagnosing common variable immunodeficiency (CVID) in childhood remains contentious, as monogenic inborn errors of immunity (IEIs) are increasingly recognized in CVID-like phenotypes. We analyzed 7,525 ESID Registry patients with a clinical diagnosis of CVID to investigate age-dependent genetic architecture and associated phenotypes. …

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Editorial Expression of Concern: DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

Haifa H. Jabara, Douglas R. McDonald, Erin Janssen, Michel J. Massaad et autres

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Long-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET)

Annarosa Soresina, Roberto Rondelli, Lucia Dora Notarangelo, Franco Locatelli et autres

Background Wiskott-Aldrich Syndrome (WAS) is characterized by eczema, infections, and severe bleeding, but may also include autoimmunity and malignancy. Subjects with X-linked thrombocytopenia (XLT) can display a mild phenotype, although severe complications may occur at any age. WAS and XLT are caused …

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Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature

Marita Bosticardo, Kerry Dobbs, Ottavia M. Delmonte, Andrew J. Martins et autres

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of RAG -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell …

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Predominantly Antibody Deficiencies

Hassan Abolhassani, Asghar Aghamohammadi, Alessandro Plebani, Lougaris Vassilios et autres

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A randomised, placebo-controlled, phase III trial of leniolisib in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): Adolescent and adult subgroup analysis

V. Koneti Rao, Anna Šedivá, Virgil A. S. H. Dalm, Alessandro Plebani et autres

Activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) is an ultra-rare, progressive genetic disease, characterised by immune deficiency and dysregulation, affecting individuals from birth. In a 12-week phase III randomised placebo-controlled trial, leniolisib, a selective PI3Kδ inhibitor, was well-tolerated and met both co-primary …

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Leniolisib treatment for people with activated PI3K delta syndrome (APDS): a plain language summary of the phase 3 study

Elaine Kulm, Sharon Webster, Anna Šedivá, Alessandro Plebani et autres

Plain language summaryWhat is this summary about? This is a plain language summary of an article originally published in Blood. Leniolisib is a drug developed to treat activated PI3K delta syndrome (APDS). APDS is a rare disease in which the immune system …

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How primary immune deficiencies impact the lung in childrens

Alessandro Plebani, Maria Pia Bondioni

variable immune deficiency.

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In adult X-CGD patients, regulatory T cells are expanded while activated T cells display a NOX2-independent ROS increase

Ilenia Cammarata, Valeria Pinna, Ilenia Pacella, Ivano Rotella et autres

The X-linked chronic granulomatous disease (X-CGD), a rare genetic disease characterised by recurrent infections, is caused by mutations of NOX2. Significant proportions of X-CGD patients display signs of immune dysregulation. Regulatory T cells (Tregs) are CD4+ T lymphocytes that expand in active …

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The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase

Emma Coppola, Mayla Sgrulletti, Manuela Cortesi, Roberta Romano et autres

PURPOSE: Inborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with complex or atypical phenotypes, not fulfilling the accepted diagnostic criteria for IEI and, thus, at high risk of misdiagnosis or diagnostic …

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Long-Term Outcome in Wiskott-Aldrich Syndrome and X-Linked Thrombocytopenia Patients: A Retrospective-Prospective Multi-Center Study of the Italian Primary Immune Deficiency Network (IPINET)

Annarosa Soresina, Roberto Rondelli, Lucia Dora Notarangelo, Franco Locatelli et autres

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