Somatic STAT5BN642H mutations shape variable immune landscapes resulting in heterogenous immune diseases

Inborn errors of immunity (IEI) are historically understood as monogenic germline issues. Nevertheless, somatic mosaicism may also lead to immune-mediated illnesses, mimicking IEI. Whereas early postzygotic mosaicism is the predominant mechanism, genetic variants inflicting a selective benefit to hematopoietic progenitors and/or mature immune cells could trigger immune dysregulation and provoke illness at any age. Somatic mosaicism for STAT5BN642H was linked to extreme allergic illness in infancy however its full scientific spectrum and underlying mechanisms stay incompletely outlined.

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