Transient immune deficiency accompanied with homozygous CBL rare variant.

Aoi MorishitaTzu-Wen YehKouki TomariMihoko FuruichiKenichi KashimadaTomohiro MorioMasatoshi TakagiKohsuke Imai

Published in: Pediatrics international : official journal of the Japan Pediatric Society (2022)

Spontaneous regression of hematological proliferation has been observed in patients with CBL mutated JMML and in patients with CBL syndrome. Intriguingly, immunological impairment was spontaneously ameliorated by aging in this patient.

Keyphrases

case report
signaling pathway