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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: closed (31 January 2025) | Viewed by 2283

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
Special Issues, Collections and Topics in MDPI journals

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

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Published Papers (2 papers)

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15 pages, 1996 KiB  
Article
Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti
by Cristina Cifaldi, Mayla Sgrulletti, Silvia Di Cesare, Beatrice Rivalta, Agolini Emanuele, Lucia Colucci, Giusella Maria Francesca Moscato, Marta Matraxia, Chiara Perrone, Gigliola Di Matteo, Caterina Cancrini and Viviana Moschese
J. Clin. Med. 2025, 14(2), 363; https://doi.org/10.3390/jcm14020363 - 9 Jan 2025
Viewed by 528
Abstract
Background/Objectives: The nuclear factor (NF)-kB essential modulator (NEMO) has a crucial role in the NFκB pathway. Hypomorphic IKBKG pathogenic variants cause ectodermal dysplasia with immunodeficiency (EDA-ID) in affected males. However, heterozygous amorphic IKBKG variants could be responsible for Incontinentia Pigmenti (IP) in [...] Read more.
Background/Objectives: The nuclear factor (NF)-kB essential modulator (NEMO) has a crucial role in the NFκB pathway. Hypomorphic IKBKG pathogenic variants cause ectodermal dysplasia with immunodeficiency (EDA-ID) in affected males. However, heterozygous amorphic IKBKG variants could be responsible for Incontinentia Pigmenti (IP) in female carriers. Typically, IP patients do not exhibit immunodeficiency, although hypomorphic variants might lead to immunodeficiency in female IP patients. Here, we report the case of an IKBKG female carrier, with no IP but an unexpected picture of immunodeficiency. She had a positive family history for the same genetic condition. Methods: We performed immunological, molecular, and functional analysis to evaluate NEMO contribution. Results: The patient was healthy until the age of 25 when severe asthma and Hashimoto thyroiditis occurred. She had HLAB27-positive ankylosing spondylitis, non-tubercular mycobacteriosis, and pulmonary aspergillosis infections. We found CD19+ B cell lymphopenia and T cell subset alterations. Sanger sequencing revealed a heterozygous IKBKG variant at position +1 of the 5′ UTR of the gene which disrupted the normal pre-mRNA splicing. We observed a decreased NEMO protein expression, a reduced level of mRNA, and a defective NF-κB pathway. Conclusions: These findings suggest a possible correlation between the partial loss of NEMO function and the immunodeficiency observed in this patient. This case could expand our understanding of NEMO deficiency in female carriers. Full article
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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 1127
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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