The Journal of Human Immunity (JHI) publishes molecular, cellular, and clinical studies of patients with inborn errors of immunity, or their phenocopies, including autoimmune and somatic disorders. A central tenet in the field is that the current range of genetic immunological disorders is only the tip of the iceberg, given the wide range of conditions and populations, and countless patients not yet studied from this angle. Systematic research into causal monogenic lesions is appropriate and likely to be informative in many infectious, allergic, inflammatory, autoimmune, and malignant disorders. Rare or even private genetic etiologies may be of heuristic value, revealing physiological mechanisms disrupted by other, more common genetic or other causes in other patients. In this context, the journal welcomes all immunological studies in line with this vision, in which molecular, cellular, or clinical abnormalities in individuals are seen as candidate phenotypes, potentially driven by inborn errors of immunity—monogenic or otherwise—worthy of genetic investigation.
Castel et al. (Tue,) studied this question.
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