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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 7/2021

01-10-2021 | Systemic Lupus Erythematosus | Letter to Editor

Macrophage Activation Syndrome in a Patient with Prolidase Deficiency: a Rare Genetic Disorder Associated with Elevated IgE and Lupus-Like Syndrome

Authors: Aakash Chandran Chidambaram, Santhosh Kumar Thangaraju, Sanjana Sarangarajan, Kaushik Maulik, Jaikumar Govindaswamy Ramamoorthy, Dhandapany Gunasekaran

Published in: Journal of Clinical Immunology | Issue 7/2021

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Excerpt

To the editor …
Literature
1.
Phang JM, Yeh GC, Scriver CR. Disorders of proline and hydroxiproline metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New york: Mcgraw Hill; 1995. p. 1125–46.
2.
Lopes I, Marques L, Neves E, Silva A, Taveira M, Pena R, et al. Prolidase deficiency with hyperimmunoglobulin E: a case report. Pediatr Allergy Immunol. 2002;13:140–2.CrossRef
3.
Fukumura A, Asaka T, Kasakura H, Doshita T, Chen W, Yokoji H, et al. Prolidase deficiency with various clinical conditions including hyper-IgE and multiple lung bulla formation. Nippon Naika Gakkai Zasshi. 2009;98:150–2.CrossRef
4.
Hershkovitz T, Hassoun G, Indelman M, Shlush LI, Bergman R, Pollack S, et al. A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. Clin Exp Dermatol. 2006;31:435–40.CrossRef
5.
Butbul Aviel Y, Mandel H, Avitan Hersh E, Bergman R, Adiv O, Luder A, et al. Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. Pediatr Rheumatol Online J. 2012;10:18.CrossRef
6.
Leoni A, Cetta G, Tenni R, Pasquali-Ronchetti I, Bertolini F, Guerra D et al. Prolidase deficiency in two siblings with chronic leg ulcerations. Clinical, biochemical, and morphologic aspects. Arch Dermatol. 1987;123:493–9.
7.
Donald S, Sun X, Hu C, Yu J, Mei J, Valle D, et al. Proline oxidase, encoded by p53-induced gene-6, catalyzes the generation of proline-dependent reactive oxygen species. Cancer Res. 2001;61:1810–5.PubMed
8.
Kurien B, D’Sousa A, Bruner B, Gross T, James J, Targoff I, et al. Prolidase deficiency breaks tolerance to lupus-associated antigens. Int J Rheum Dis. 2013;16:674–80.
9.
Ravelli A, Minoia F, Davì S, Horne A, Bovis F, Pistorio A, et al. 2016 Classification criteria for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: A European league against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative. Arthritis Rheumatol. 2016;68:566–76.CrossRef
10.
Rosário C, Zandman-Goddard G, Meyron-Holtz EG, D’Cruz DP, Shoenfeld Y. The hyperferritinemic syndrome: macrophage activation syndrome, Still’s disease, septic shock and catastrophic antiphospholipid syndrome. BMC Med. 2013;11:185.
11.
Canna SW, Marsh RA. Pediatric hemophagocytic lymphohistiocytosis. Blood. 2020;A135:1332–43.CrossRef
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Janka GE, Lehmberg K. Hemophagocytic lymphohistiocytosis: pathogenesis and treatment. Hematology Am Soc Hematol Educ Program. 2013;2013:605–11.
Metadata
Title
Macrophage Activation Syndrome in a Patient with Prolidase Deficiency: a Rare Genetic Disorder Associated with Elevated IgE and Lupus-Like Syndrome
Authors
Aakash Chandran Chidambaram
Santhosh Kumar Thangaraju
Sanjana Sarangarajan
Kaushik Maulik
Jaikumar Govindaswamy Ramamoorthy
Dhandapany Gunasekaran
Publication date
01-10-2021
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 7/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-021-01096-2

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