Follicular bronchiolitis as phenotype associated with CD25 deficiency

Bezrodnik, Liliana; Caldirola, María Soledad; Seminario, Analía Gisela; Moreira, Ileana; Gaillard, María Isabel

doi:10.1111/cei.12214

Cited by 48 publications

(47 citation statements)

References 18 publications

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“…IPEX-like immune dysregulation with enteropathy can also be caused by defects in IL2 signaling in patients with defects in the IL2 receptor α chain (IL2RA, encoding CD25) 114, 115 or a dominant gain of function in STAT1 signaling 116 .…”

Section: Regulatory T Cells and Il10 Signalingmentioning

confidence: 99%

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

et al. 2014

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Patients with a diverse spectrum of rare genetic disorders can present with inflammatory bowel diseases (monogenic IBD). Patients with these disorders often develop symptoms during infancy or early childhood, along with endoscopic or histologic features of Crohn’s disease, ulcerative colitis or IBD unclassified. Defects in interleukin 10 signaling have a Mendelian inheritance pattern with complete penetrance of intestinal inflammation. Several genetic defects that disturb intestinal epithelial barrier function or affect innate and adaptive immune function have incomplete penetrance of the IBD-like phenotype. Several of these monogenic conditions do not respond to conventional therapy and are associated with high morbidity and mortality. Due to the broad spectrum of these extremely rare diseases, a correct diagnosis is frequently a challenge and often delayed. In many cases, these diseases cannot be categorized based on standard histologic and immunologic features of IBD. Genetic analysis is required to identify the cause of the disorder and offer the patient appropriate treatment options, which include medical therapy, surgery, or allogeneic hematopoietic stem cell transplantation. In addition, diagnosis based on genetic analysis can lead to genetic counseling for family members of patients. We describe key intestinal, extra-intestinal, and laboratory features of 50 genetic variants associated with IBD-like intestinal inflammation. We provide approaches for identifying patients likely to have these disorders. We discuss classical approaches to identify these variants in patients, starting with phenotypic and functional assessments that lead to analysis of candidate genes. As a complementary approach, we discuss parallel genetic screening using next-generation sequencing followed by functional confirmation of genetic defects.

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Section: Regulatory T Cells and Il10 Signalingmentioning

confidence: 99%

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

et al. 2014

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“…CD25 deficiency properties shared with IPEX include chronic eczema, enteropathy, lymphoproliferation, and autoimmunity disorders such as alopecia, diabetes mellitus, thyroiditis, and autoimmune hemolytic anemia [101][102][103]. CD25 deficiency is permissive to Treg cell differentiation, with normal count of FOXP3+ Treg cells found in circulation [104].…”

Section: Immune Dysregulation Polyendocrinopathy Enteropathy X-linmentioning

confidence: 99%

Physiology and Pathology of Immune Dysregulation: Regulatory T Cells and Anergy

Torres¹,

López-Casado²,

León³

et al. 2017

Physiology and Pathology of Immunology

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The immune system is responsible for the defense of the organism. It controls what is introduced into it and identifies it as self from non-self. The defensive mechanisms activated by the immune system are directed against pathological microbes and toxic or allergenic proteins, and it must avoid responses that produce excessive damage of self-tissues, inducing tolerance to avoid autoimmunity and other immunopathologies. Regulatory Tcells play an essential role in these active processes, using several distinct suppressive mechanisms. The immune dysregulatory diseases result from defects affecting regulatory T cell development and/or function, including the impact of essential genes mutations for Tregulatory cell functions and the associated autoimmune syndromes.

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“…CD25 deficiency in human leads to both autoimmunity and immunodeficiency with recurrent infections. Features of CD25 deficiency that shared with IPEX include chronic eczema, enteropathy, lymphoproliferation and autoimmunity disorders such as alopecia, diabetes mellitus, thyroiditis and autoimmune hemolytic anemia [74–77]. CD25 deficiency is permissive to Treg cell differentiation, with normal count of FOXP3 + Treg cells found in circulation [78].…”

Section: Ipex Like Disordersmentioning

confidence: 99%

T Regulatory Cell Biology in Health and Disease

Alroqi

Chatila

2016

Curr Allergy Asthma Rep

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Regulatory T (Treg) cells that express the transcription factor Forkhead box protein P3 (FoxP3) play an essential role in enforcing immune tolerance to self tissues, regulating host-commensal flora interaction and facilitating tissue repair. Their deficiency and/or dysfunction triggers unbridled autoimmunity and inflammation. A growing number of monogenic defects have been recognized that adversely impact Treg cell development, differentiation and/or function, leading to heritable diseases of immune dysregulation and autoimmunity. In this article, we review recent insights into Treg cell biology and function, with particular attention to lessons learned from newly recognized clinical disorders of Treg cell deficiency.

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Follicular bronchiolitis as phenotype associated with CD25 deficiency

Cited by 48 publications

References 18 publications

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

Physiology and Pathology of Immune Dysregulation: Regulatory T Cells and Anergy

T Regulatory Cell Biology in Health and Disease

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