Immunodeficiency and disorders of immune dysregulation

The spectrum of clinical features associated with primary immune deficiency disorders (PIDs) has broadened due to the recent identification of many novel causative genes. Patients present with increased susceptibility to infections in addition to significant immune dysregulation, often leading to mu...

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Published inPediatric allergy and immunology Vol. 31; no. S24; pp. 8 - 10
Main Author Delmonte, Ottavia Maria
Format Journal Article
LanguageEnglish
Published England Wiley Subscription Services, Inc 01.02.2020
Subjects
Animals
Autoimmunity
Class I Phosphatidylinositol 3-Kinases - genetics
Class I Phosphatidylinositol 3-Kinases - metabolism
CTLA-4 Antigen - genetics
CTLA-4 Antigen - metabolism
Genetic Association Studies
Genetic Therapy - trends
Humans
immune dysregulation
Immunodeficiency
Immunologic Deficiency Syndromes - genetics
Malignancy
Mutation - genetics
Patients
Precision Medicine
primary immunodeficiency diseases
Whole Exome Sequencing
precision medicine
primary immunodeficiency diseases
immune dysregulation
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Summary:The spectrum of clinical features associated with primary immune deficiency disorders (PIDs) has broadened due to the recent identification of many novel causative genes. Patients present with increased susceptibility to infections in addition to significant immune dysregulation, often leading to multiple autoimmunity, lymphoproliferation, and malignancy. Immunosuppressive treatment is often required but has to be weighed against augmented infectious risk. Recently, the improved molecular understanding of the mechanisms underlying many loss‐of‐function (LOF) and gain‐of‐function (GOF) genetic defects leading to PIDs has set the ground for the development of mechanism‐based therapeutic strategies that target a specific cell function. This article describes the clinical and laboratory features of selected recently described PIDs associated with immune dysregulation and novel precision medicine strategies aimed to control the disease burden in affected patients.
Bibliography:Funding information
Edited by Gian Luigi Marseglia.
This work was supported by the Division of Intramural Research, National Institutes of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
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ISSN:0905-6157
1399-3038
DOI:10.1111/pai.13163