European Society of Immunodeficiencies guidelines for the management of patients with congenital athymia

Congenital athymia is a life-limiting dysfunction as a result of uncommon inborn errors of immunity inflicting impaired thymus organogenesis or irregular thymic stromal cell improvement and performance. Athymic infants have a T-B+NK+ immunophenotype with profound T lymphocyte deficiency and are prone to extreme infections and autoimmunity. Sufferers variably show syndromic options. Increasing entry to new child screening for extreme mixed immunodeficiency (SCID) and T lymphocytopaenia and broad genetic testing, together with next-generation sequencing applied sciences, more and more facilitate their well timed identification.

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