The Interplay Between the Immune System and Bone Marrow Function in Inborn Errors of Immunity and Marrow Failure

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Background

Differential diagnosis between acquired and congenital Bone Marrow Failure Diseases (cBMF) represents a crucial step for patients’ management and for identifying specific treatment strategies. The diagnosis can be very challenging and a number of cases are often misdiagnosed. Recently, immune-dysregulation has been reported in patients with cBMF as a consequence of lymphocytopenia and, inversely, the impairment of bone marrow function has been described in Inborn Errors of Immunity (IEI) due to autoimmunity and inflammation recently. Moreover, other rare congenital disorders are characterized by the concomitant impairment of both the growth of marrow precursors and the immune system. In most cases, the pathogenesis of marrow dysfunction needs to be further clarified. Since the therapeutic approach and the indication to hematopoietic stem cell transplantation can be different according to the underlying defect, making the correct diagnosis of the specific disorder generating marrow failure represents a challenge for clinicians. A better knowledge of the pathogenic mechanisms leading to the impairment of marrow function in the setting of IEI may help to investigate novel potential treatment targets.

This Research Topic aims to elucidate the natural and abnormal interplay between the immune system and bone marrow function and to focus on the mechanisms generating pathogenic and clinical features overlapping between bone marrow failure and immune deficiency/immune dysregulation.

Although some mechanisms of a marrow failure like the T-cell/autoantibody-mediated destruction of marrow precursors, or the cytokine-mediated impairment of marrow growth or the negative impact of hyper-inflammation on the marrow microenvironment are described, indeed the interplay between immune deficiency/dysregulation is not fully understood today.

Therefore this Research Topic aims to collect articles that increase our understanding of the origin of immune dysregulation in the setting of cBMF and the identification of causes of marrow dysfunction in patients with IEI. These studies will, ultimately, help to clarify the pathomechanisms underlying immune dysregulation-linked marrow failure and open up new avenues for the development of targeted treatment strategies.

The scope of this Research Topic is to highlight pathogenic mechanisms and clinical issues related to the clinical and pathogenic overlap between marrow failure and immune dysregulation. We welcome the submission of all article types permitted in the section, including Original Research articles on basic, translational, or clinical research, Case Reports, and Reviews. We welcome submissions covering, but not limited to, the following sub-topics:

• Bone marrow failure pathogenesis with emphasis on immunology

• Immune-dysregulation in cBMF syndromes

• Immune abnormalities of Pure Red Cell Aplasia

• Immunobiology of Telomeropaties and its impact on marrow function

• Impact of inflammation and cytokines in the context of IEI or other immune-pathological conditions on stem cells growth and maturation

• Antibody-mediated destruction of marrow precursors

• Marrow dysfunction in IEI

• Immunobiology of bone marrow: the role of B and plasma cells, T cells, NK cells, dendritic cells, monocyte/ macrophage

• Diagnosis and management of GATA2, SAMD9, SAMD9L, and IRF8-associated defects.

• Enzymatic activity, erythroid precursors growth, and immunobiology of ADA2

• Clinical and pathogenic features of DADA2 with emphasis on marrow failure issues

• Clinical features, pathogenesis, and immunobiology of DNA-Repair syndromes

• Targeted treatments of IEI and their specific effect on hematopoiesis and cytopenias

• Stem Cell Transplantation of Primary Immune regulatory disorders and other IEI with severe immune cytopenias or bone marrow failure


Topic Editor Dr. Seidel's Research Unit received financial support from Novartis, AMGEN, and Takeda. The other Topic Editors declare no conflicts of interest with regards to the Research Topic focus.

Keywords: Bone Marrow Failure, Immune-dysregulation, Primary Immuno-regulatory Disorders, Inborn Error of Immunity, DNA-repair Syndromes

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