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Jacobson JD, Broussard JR, Marsh C, et al. Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1. Case Rep Endocrinol. 2021;2021:6009141doi: 10.1155/2021/6009141.
Jacobson, J. D., Broussard, J. R., Marsh, C., & Newell, B. (2021). Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1. Case reports in endocrinology, 20216009141. https://doi.org/10.1155/2021/6009141
Jacobson, Jill D, et al. "Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1." Case reports in endocrinology vol. 2021 (2021): 6009141. doi: https://doi.org/10.1155/2021/6009141
Jacobson JD, Broussard JR, Marsh C, Newell B. Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1. Case Rep Endocrinol. 2021 Dec 13;2021:6009141. doi: 10.1155/2021/6009141. eCollection 2021. PMID: 34938581; PMCID: PMC8687844.
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Case Rep Endocrinol. 2021 Dec 13;2021:6009141. doi: 10.1155/2021/6009141. eCollection 2021.

Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1.

Case reports in endocrinology

Jill D Jacobson, Julia R Broussard, Courtney Marsh, Brandon Newell

Affiliations

  1. Division of Endocrinology and Diabetes, Department of Pediatrics, Children's Mercy, University of Missouri-Kansas City School of Medicine, Kansas, MO 64111, USA.
  2. Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Kansas School of Medicine, Kansas, KS 66160, USA.
  3. Division of Dermatology, Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas, MO 64111, USA.

PMID: 34938581 PMCID: PMC8687844 DOI: 10.1155/2021/6009141

Abstract

Autoimmune polyglandular syndrome type 1 (APS1) is a progressive life-threatening illness with no known cure. Current treatments involve replacement of the hormone deficiencies that result from autoimmune destruction of multiple endocrine organs. We report on a girl whose disease was progressing rapidly until she began on immunosuppressive agents. A healthy 6-year-old girl with no remarkable medical history presented with new onset hypocalcemic seizures and primary hypoparathyroidism. Howell-Jolly bodies consistent with autoimmune hyposplenism were also noted. Genetic testing revealed compound heterozygosity for 2 disease-associated variants in the autoimmune regulator (AIRE) gene. She later developed elevated liver enzymes, primary adrenal insufficiency, and alopecia totalis. Serologic testing revealed antibodies to 21-hydroxylase, intrinsic factor, and smooth muscle. Hydrocortisone was initiated for adrenal insufficiency. Shortly afterwards, her liver enzymes normalized, and her smooth muscle antibody levels began to decline. Serologic testing performed at age 11 revealed seropositivity for glutamic acid decarboxylase (GAD) antibodies, antinuclear antibodies, and Sjögren syndrome A (SSA) antibodies. At age 12, she was given 2 doses of rituximab. Hair loss rapidly progressed to alopecia totalis and then to alopecia universalis, at which time oral methotrexate treatment was initiated. For the past 7 years while on glucocorticoid and methotrexate treatment, our patient has displayed normalization of 2 antibodies, a lack of progression to additional autoimmune diseases, and experienced reversal of alopecia universalis.

Copyright © 2021 Jill D. Jacobson et al.

Conflict of interest statement

The authors declare that they have no conflicts of interest.

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