Open AccessSevere Combined Immunodeficiency with De Novo Duchenne Muscular Dystrophy Mutation
Author(s) -
Shah Kevin P.,
Ramachandran Vignesh,
Nicholas Sarah K.,
Hanson Imelda C.,
Lotze Timothy E.,
Martinez Caridad A.,
Fishman Douglas S.
Publication year - 2022
Publication title -
jpgn reports
Language(s) - Uncategorized
Resource type - Journals
ISSN - 2691-171X
DOI - 10.1097/pg9.0000000000000135
Subject(s) - medicine , duchenne muscular dystrophy , severe combined immunodeficiency , dystrophin , immunodeficiency , muscle biopsy , muscular dystrophy , creatine kinase , biopsy , pathology , immunology , gene , immune system , biology , genetics
Both severe combined immunodeficiency (SCID) syndrome and Duchenne muscular dystrophy (DMD) are rare conditions. Patients with X‐linked SCID have pathogenic variants of the IL2RG gene, resulting in defective cellular and humoral immunity. DMD is also an X‐linked condition caused by a dystrophin gene mutation, causing progressive proximal muscle weakness. We present a patient diagnosed with SCID at birth who underwent matched unrelated donor bone marrow transplant (BMT). Several months after, he was noted to have persistently elevated aminotransferases. Despite a lack of clinical signs of graft versus host disease (GvHD), a liver biopsy revealed mild GvHD. Creatine kinase (CK) levels of >19,000 U/L prompted evaluation for muscular dystrophies. Given BMT, genetic analysis was not an option. Muscle biopsy confirmed DMD. This case highlights the complexity of diagnosing and managing uncommon genetic conditions through a multidisciplinary team‐based approach. This case is only the second reported case of SCID and DMD together.