Immune Dysregulation in Inborn Errors of Immunity: From Allergy to Autoimmunity and Lymphoproliferation

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Immunology".

Deadline for manuscript submissions: 31 July 2024 | Viewed by 634

Special Issue Editor


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Guest Editor
Section of Pediatric Hematology and Oncology, Santa Chiara Hospital, Pisa, Italy
Interests: inborn errors of immunity; autoimmune diseases; primary immunodeficiency disorders; immune dysregulation; autoimmune cytopenia; lymphoproliferation
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Special Issue Information

Dear Colleagues,

The field of inborn errors of immunity (IEI) is extremely vast, ranging from conditions in which infectious susceptibility dominates the clinical picture to other diseases featured by prominent aspects of immune dysregulation. Specifically, IEI can present with autoimmune manifestations (including cytopenia, endocrinopathy, and others), atopic diseases, benign lymphoproliferation, and increased risk for hematologic and non-hematologic malignancies. The increasing recognition of immune dysregulation as a presenting sign of IEI opens the opportunity to improve early diagnosis in this category of patients. Also, the treatment of immune dysregulation in IEI represents a significant clinical challenge, although recent advances in immunology and genetics have allowed researchers to discover some new monogenic entities in which there is the possibility to provide specific therapeutic strategies targeting the molecular defect underlying the disease. Therefore, this Special Issue aims to help us in expanding the knowledge about immune dysregulation in IEI, and clinical aspects.

Dr. Giorgio Costagliola
Guest Editor

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Keywords

  • immune dysregulation
  • immunodeficiency
  • autoimmunity
  • allergy
  • lymphoproliferation
  • inborn errors of immunity

Published Papers (1 paper)

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7 pages, 661 KiB  
Brief Report
The Dark Side of Activated Phosphoinositide 3-Kinase-δ Syndrome 2: A Story Rewritten through FDG-PET
by Arianna Catelli, Cristina Nanni, Rita Mulè, Pier Luigi Zinzani, Elena Sabattini, Marcello Lanari and Francesca Conti
J. Clin. Med. 2024, 13(8), 2203; https://doi.org/10.3390/jcm13082203 - 11 Apr 2024
Viewed by 504
Abstract
Background: Activated phosphoinositide 3-kinase-δ syndrome 2 (APDS2) is characterized by lymphoproliferation and increased risk of malignancy. FDG-PET/CT may represent a helpful diagnostic tool for differentiating these clinical features and correctly diagnosing inborn errors of immunity (IEI). Case report: We present the case of [...] Read more.
Background: Activated phosphoinositide 3-kinase-δ syndrome 2 (APDS2) is characterized by lymphoproliferation and increased risk of malignancy. FDG-PET/CT may represent a helpful diagnostic tool for differentiating these clinical features and correctly diagnosing inborn errors of immunity (IEI). Case report: We present the case of a female patient diagnosed with Hodgkin’s lymphoma at 19 years of age, although atypical imaging aspects emerged: baseline FDG-PET/CT revealed several hot lymph nodes with a symmetrical distribution, and increased tracer uptake in spleen, axial, and appendicular bone marrow. Imaging repeated after chemotherapy and autologous stem cell transplantation showed persistent increased FDG uptake at multiple supradiaphragmatic nodes and in bone marrow. After the diagnosis of APDS2 and rapamycin treatment, FDG-PET/CT confirmed complete metabolic normalization of all sites. Conclusions: In the IEI scenario, FDG-PET/CT plays an effective role in differentiating malignant proliferation and immune dysregulation phenotypes. Atypical patterns at FDG-PET/CT should be interpreted as a red flag for the need of an early immunological evaluation. Full article
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