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Advances in Immunohematology: From Pathophysiology to Tailored Treatments
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Advances in Immunohematology: From Pathophysiology to Tailored Treatments

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

Deadline for manuscript submissions: 25 June 2026 | Viewed by 1406

Special Issue Editor

Dr. Giorgio Costagliola

E-Mail Website
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,

It is my pleasure to invite you and members of your research group to submit an article for a Special Issue entitled “Advances in Immunohematology: From Pathophysiology to Tailored Treatments”.

In recent years, the field of immuno-hematology has rapidly expanded, with improved characterization of the pathogenic mechanisms linking inborn errors of immunity and hematological diseases (autoimmune cytopenia, lymphoproliferation, malignancies, and hemophagocytic lymphohistiocytosis). Moreover,  there has been an increasing use of immunological therapeutic strategies (i.e., monoclonal antibodies) in both benign and hematological diseases.

With this Special Issue, we aim to provide an overview of the most relevant innovations in immuno-hematology, with a focus on clinical and therapeutic perspectives. We welcome the submission of original research and review papers addressing, but not limited to, the following topics:

  • Inborn errors of immunity with hematological involvement;
  • Cellular therapies for hematological diseases;
  • Hematopoietic stem cell transplantation for inborn errors of immunity and hematological diseases;
  • Precision medicine in immuno-hematology;
  • Immunization strategies in patients with immunohematological diseases.

Dr. Giorgio Costagliola
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • autoimmune cytopenia
  • hemophagocytic lymphohistiocytosis
  • inborn errors of immunity
  • lymphoproliferative diseases
  • malignancy
  • monoclonal antibodies
  • secondary immunodeficiency
  • vaccination

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Published Papers (1 paper)

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Research

20 pages, 1168 KB  
Article
Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Immuno-Hematologic Trajectories
by Ragip Fatih Kural, Zuleyha Galata, Reyhan Gumusburun, Ceyda Tunakan Dalgic, Nur Soyer, Havva Yazıcı, Ayse Nur Yuceyar, Aslı Subasıoglu, Irem Evcili, Bilgi Gungor, Kasım Okan, Mehmet Soylu, Cihat Uzunkopru and Omur Ardeniz
J. Clin. Med. 2026, 15(6), 2395; https://doi.org/10.3390/jcm15062395 - 21 Mar 2026
Viewed by 927
Abstract
Background: X-linked immunodeficiency with magnesium defect, Epstein–Barr virus (EBV) infection, and neoplasia (XMEN) disease is a rare inborn error of immunity caused by loss-of-function mutations in MAGT1, leading to impaired N-linked glycosylation. Although chronic EBV viremia is a hallmark of XMEN disease, [...] Read more.
Background: X-linked immunodeficiency with magnesium defect, Epstein–Barr virus (EBV) infection, and neoplasia (XMEN) disease is a rare inborn error of immunity caused by loss-of-function mutations in MAGT1, leading to impaired N-linked glycosylation. Although chronic EBV viremia is a hallmark of XMEN disease, the mechanisms underlying its marked clinical heterogeneity remain poorly understood. Methods: We performed an in-depth clinical, immunological, and genetic characterization of two siblings carrying a pathogenic MAGT1 variant (c.369_370insCC; p.Gly124fs), validated and deposited in ClinVar (SCV007293792). Assessments included whole-exome sequencing, multiparametric flow cytometry focusing on NKG2D expression, and longitudinal clinical follow-up. Results: Despite shared absence of NKG2D expression, the siblings exhibited strikingly divergent phenotypes. One sibling developed progressive neurodegeneration with central nervous system atrophy. The other presented with a complex immuno-hematologic phenotype, including EBV-positive Hodgkin lymphoma, recurrent autoimmune cytopenias, and lymphoma-associated thrombotic microangiopathy, representing a novel clinical association in XMEN disease. Comparative immunophenotyping revealed shared defects in B-cell maturation but distinct T-cell differentiation patterns. To contextualize neurological variability, we propose a descriptive, hypothesis-generating three-category conceptual classification comprising early-onset neurodevelopmental forms, adult-onset neurodegenerative manifestations, and secondary immune-mediated or vascular involvement of the nervous system. Conclusions: These findings demonstrate profound intrafamilial heterogeneity in XMEN disease and suggest a model in which modifier-sensitive factors influence organ-specific disease expression. The observation of lymphoma-associated thrombotic microangiopathy and the proposed descriptive neurological classification provide a conceptual framework that may help guide tailored, multidisciplinary surveillance beyond the primary genetic defect. Full article
(This article belongs to the Special Issue Advances in Immunohematology: From Pathophysiology to Tailored Treatments)
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