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Case Reports
. 2021 Nov 29;3(1):e135.
doi: 10.1097/PG9.0000000000000135. eCollection 2022 Feb.

Severe Combined Immunodeficiency with De Novo Duchenne Muscular Dystrophy Mutation

Kevin P Shah  1 , Vignesh Ramachandran  1 , Sarah K Nicholas  1   2 , Imelda C Hanson  1   2 , Timothy E Lotze  1   3 , Caridad A Martinez  1   4 , Douglas S Fishman  1   5
Affiliations
Case Reports

Severe Combined Immunodeficiency with De Novo Duchenne Muscular Dystrophy Mutation

Kevin P Shah et al. JPGN Rep. .

Abstract

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.

Keywords: bone marrow transplant; elevated transaminases; graft vs host disease; myopathy; primary immunodeficiency.

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Conflict of interest statement

The authors report no conflicts of interest.

Figures

FIGURE 1.
FIGURE 1.
This shows the trend of liver indices that led to the initial biopsy with suspicion of GvHD and eventual diagnosis of DMD at 11 months. DMD indicates Duchenne muscular dystrophy; GvHD, graft versus host disease.
See this image and copyright information in PMC

References

    1. Picard C, Bobby Gaspar H, Al-Herz W, et al. . International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018;38:96–128. - PMC - PubMed
    1. Griffith LM, Cowan MJ, Notarangelo LD, et al. ; Workshop Participants. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol. 2009;124:1152–60.e12. - PMC - PubMed
    1. Severe Combined Immunodeficiency (SCID). National Institute of Allergy and Infectious Diseases 2019. Available at: https://www.niaid.nih.gov/diseases-conditions/severe-combined-immunodefi.... Accessed July 2020.
    1. Lipstein EA, Vorono S, Browning MF, et al. . Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics. 2010;125:e1226–e1235. - PubMed
    1. Venugopal V, Pavlakis S. Duchenne Muscular Dystrophy. Treasure Island, FL: StatPearls Publishing. 2020. - PubMed

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