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. 2023 Jun;34(6):e13968.
doi: 10.1111/pai.13968.

Aicardi-Goutières syndrome presenting with pneumocystis jirovecii pneumonia

Leslie A Fogel  1 , Tarin M Bigley  1 , Jordan J Cole  2 , Michele M Estabrook  3 , Maleewan Kitcharoensakkul  1   4
Affiliations

Aicardi-Goutières syndrome presenting with pneumocystis jirovecii pneumonia

Leslie A Fogel et al. Pediatr Allergy Immunol. 2023 Jun.
No abstract available

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References

REFERENCES

    1. Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984;15(1):49-54.
    1. Crow YJ, Chase DS, Schmidt JL, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015;167(2):296-312.
    1. Diamond J. Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome. Clin Genet. 2014;86(5):473-474.
    1. Rice GI, Forte GMA, Szynkiewicz M, et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013;12(12):1159-1169.
    1. McLellan KE, Martin N, Davidson JE, et al. JAK 1/2 blockade in MDA5 gain-of-function. J Clin Immunol. 2018;38(8):844-846.

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