Primary immunodeficiencies in humans are increasingly becoming a highly heterogeneous group of disorders exhibiting considerable clinical and genetic variations from one patient to another. Despite this variability, patients suffering from primary immune deficiencies typically share, as a group, a predisposition for repeated and/or severe infections, usually manifesting early in life. Genetic diagnosis is often reached after such recurrent infections raise suspicion (and in recent years, following larger-scale screening efforts in newborns - for some of the most severe forms).
However, depending on genetic or environmental factors, onset of a primary immune deficiency may occur later in life (even in adulthood). This is to be distinguished from secondary immune deficiency arising in adulthood following a distinct primary cause (such as AIDS or hematological malignancies), as well as from delayed diagnosis of an early-onset deficiency.
In this Research Topic, we aim to bring together researchers to update the view and knowledge in this field. We welcome the submission of Review, Original Research, Clinical Trials, Case Reports and Perspective articles covering, but not limited to, the following sub-topics:
• Distinguishing clinical and immunological features and pathogenesis of late-onset PIDs
• Dissecting the clinical presentations’ overlap with autoimmunity and autoinflammation
• Particular genetic and epigenetic factors linked to late-onset primary immune deficiency
• Indication and applicability of existing treatments (such as HSCT or biologics) in a late-onset context
• Immunological findings potentially leading to treatment and management strategies
Primary immunodeficiencies in humans are increasingly becoming a highly heterogeneous group of disorders exhibiting considerable clinical and genetic variations from one patient to another. Despite this variability, patients suffering from primary immune deficiencies typically share, as a group, a predisposition for repeated and/or severe infections, usually manifesting early in life. Genetic diagnosis is often reached after such recurrent infections raise suspicion (and in recent years, following larger-scale screening efforts in newborns - for some of the most severe forms).
However, depending on genetic or environmental factors, onset of a primary immune deficiency may occur later in life (even in adulthood). This is to be distinguished from secondary immune deficiency arising in adulthood following a distinct primary cause (such as AIDS or hematological malignancies), as well as from delayed diagnosis of an early-onset deficiency.
In this Research Topic, we aim to bring together researchers to update the view and knowledge in this field. We welcome the submission of Review, Original Research, Clinical Trials, Case Reports and Perspective articles covering, but not limited to, the following sub-topics:
• Distinguishing clinical and immunological features and pathogenesis of late-onset PIDs
• Dissecting the clinical presentations’ overlap with autoimmunity and autoinflammation
• Particular genetic and epigenetic factors linked to late-onset primary immune deficiency
• Indication and applicability of existing treatments (such as HSCT or biologics) in a late-onset context
• Immunological findings potentially leading to treatment and management strategies