Congenital nephrotic syndrome in IL7Rα-SCID: A rare feature of maternofetal graft-versus-host disease

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Biallelic mutations in IL7R, encoding the IL-7 receptor α-chain, typically present as T−B+NK+ severe combined immunodeficiency (SCID) owing to the protein's role in early T-lymphocyte development,1 accounting for 5% to 10% of SCID cases with variation by population.2 Rarely, hypomorphic IL7R mutations may cause Omenn's syndrome (OS), manifesting as erythroderma, lymphadenopathy, hepatosplenomegaly, and raised IgE, generated by autologous autoreactive T lymphocytes.1 An important differential diagnosis is engraftment of maternal T lymphocytes causing graft-versus-host disease (maternofetal engraftment [MFE]).