Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation

Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and impaired immune homeostasis. A subgroup of these disorders frequently presents with autoimmunity and lymphoproliferation (ALPID phenotype). After th...

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Published inMolecular and cellular pediatrics Vol. 10; no. 1; pp. 11 - 16
Main Authors Toskov, Vasil, Ehl, Stephan
Format Journal Article
LanguageEnglish
Published Cham Springer International Publishing 13.09.2023
Springer Nature B.V
SpringerOpen
Subjects
1-Phosphatidylinositol 3-kinase
Antigens
Apoptosis
Autoimmune lymphoproliferative immunodeficiencies
Autoimmunity
Bone marrow
Childhood
Children
Chronic Inflammation in Childhood
CTLA-4 protein
Diabetes
Diagnosis
Disease
Endocrinology
Genetic disorders
Genotype & phenotype
Haploinsufficiency
Homeostasis
Immune dysregulation
Immune response
Immune system
Immunodeficiency
Immunology
Inborn errors of immunity
Kinases
Ligands
Lymphocytes
Medicine
Medicine & Public Health
Mutation
Oncology
Pathogenesis
Pediatrics
Phenotypes
Review
Stat3 protein
T cell receptors
Targeted therapy
Tumor necrosis factor-TNF
Immune dysregulation
Inborn errors of immunity
Autoimmune lymphoproliferative immunodeficiencies
Pathogenesis
Targeted therapy
Online AccessGet full text
ISSN2194-7791
2194-7791
DOI10.1186/s40348-023-00167-1

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Abstract Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and impaired immune homeostasis. A subgroup of these disorders frequently presents with autoimmunity and lymphoproliferation (ALPID phenotype). After the initial description of the genetic basis of autoimmune lymphoproliferative syndrome (ALPS) more than 20 years ago, progress in genetics has helped to identify many more genetic conditions underlying this ALPID phenotype. Among these, the majority is caused by a group of autosomal-dominant conditions including CTLA-4 haploinsufficiency, STAT3 gain-of-function disease, activated PI3 kinase syndrome, and NF-κB1 haploinsufficiency. Even within a defined genetic condition, ALPID patients may present with staggering clinical heterogeneity, which makes diagnosis and management a challenge. In this review, we discuss the pathophysiology, clinical presentation, approaches to diagnosis, and conventional as well as targeted therapy of the most common ALPID conditions.
AbstractList Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and impaired immune homeostasis. A subgroup of these disorders frequently presents with autoimmunity and lymphoproliferation (ALPID phenotype). After the initial description of the genetic basis of autoimmune lymphoproliferative syndrome (ALPS) more than 20 years ago, progress in genetics has helped to identify many more genetic conditions underlying this ALPID phenotype. Among these, the majority is caused by a group of autosomal-dominant conditions including CTLA-4 haploinsufficiency, STAT3 gain-of-function disease, activated PI3 kinase syndrome, and NF-κB1 haploinsufficiency. Even within a defined genetic condition, ALPID patients may present with staggering clinical heterogeneity, which makes diagnosis and management a challenge. In this review, we discuss the pathophysiology, clinical presentation, approaches to diagnosis, and conventional as well as targeted therapy of the most common ALPID conditions.
Abstract Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and impaired immune homeostasis. A subgroup of these disorders frequently presents with autoimmunity and lymphoproliferation (ALPID phenotype). After the initial description of the genetic basis of autoimmune lymphoproliferative syndrome (ALPS) more than 20 years ago, progress in genetics has helped to identify many more genetic conditions underlying this ALPID phenotype. Among these, the majority is caused by a group of autosomal-dominant conditions including CTLA-4 haploinsufficiency, STAT3 gain-of-function disease, activated PI3 kinase syndrome, and NF-κB1 haploinsufficiency. Even within a defined genetic condition, ALPID patients may present with staggering clinical heterogeneity, which makes diagnosis and management a challenge. In this review, we discuss the pathophysiology, clinical presentation, approaches to diagnosis, and conventional as well as targeted therapy of the most common ALPID conditions.
Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and impaired immune homeostasis. A subgroup of these disorders frequently presents with autoimmunity and lymphoproliferation (ALPID phenotype). After the initial description of the genetic basis of autoimmune lymphoproliferative syndrome (ALPS) more than 20 years ago, progress in genetics has helped to identify many more genetic conditions underlying this ALPID phenotype. Among these, the majority is caused by a group of autosomal-dominant conditions including CTLA-4 haploinsufficiency, STAT3 gain-of-function disease, activated PI3 kinase syndrome, and NF-κB1 haploinsufficiency. Even within a defined genetic condition, ALPID patients may present with staggering clinical heterogeneity, which makes diagnosis and management a challenge. In this review, we discuss the pathophysiology, clinical presentation, approaches to diagnosis, and conventional as well as targeted therapy of the most common ALPID conditions.Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and impaired immune homeostasis. A subgroup of these disorders frequently presents with autoimmunity and lymphoproliferation (ALPID phenotype). After the initial description of the genetic basis of autoimmune lymphoproliferative syndrome (ALPS) more than 20 years ago, progress in genetics has helped to identify many more genetic conditions underlying this ALPID phenotype. Among these, the majority is caused by a group of autosomal-dominant conditions including CTLA-4 haploinsufficiency, STAT3 gain-of-function disease, activated PI3 kinase syndrome, and NF-κB1 haploinsufficiency. Even within a defined genetic condition, ALPID patients may present with staggering clinical heterogeneity, which makes diagnosis and management a challenge. In this review, we discuss the pathophysiology, clinical presentation, approaches to diagnosis, and conventional as well as targeted therapy of the most common ALPID conditions.
ArticleNumber 11
Author Toskov, Vasil
Ehl, Stephan
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Issue 1
Keywords Immune dysregulation
Inborn errors of immunity
Autoimmune lymphoproliferative immunodeficiencies
Pathogenesis
Targeted therapy
Language English
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Snippet Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and...
Abstract Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses...
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SubjectTerms 1-Phosphatidylinositol 3-kinase
Antigens
Apoptosis
Autoimmune lymphoproliferative immunodeficiencies
Autoimmunity
Bone marrow
Childhood
Children
Chronic Inflammation in Childhood
CTLA-4 protein
Diabetes
Diagnosis
Disease
Endocrinology
Genetic disorders
Genotype & phenotype
Haploinsufficiency
Homeostasis
Immune dysregulation
Immune response
Immune system
Immunodeficiency
Immunology
Inborn errors of immunity
Kinases
Ligands
Lymphocytes
Medicine
Medicine & Public Health
Mutation
Oncology
Pathogenesis
Pediatrics
Phenotypes
Review
Stat3 protein
T cell receptors
Targeted therapy
Tumor necrosis factor-TNF
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Title Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation
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Volume 10
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