Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.

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Tytuł:: Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.
Autorzy:: Huang X; Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Xu M; Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Dai S; Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Wang M; Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Zheng H; Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Zeng K; Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Li L; Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Źródło:: The Journal of dermatology [J Dermatol] 2021 Apr; Vol. 48 (4), pp. 519-528. Date of Electronic Publication: 2021 Jan 17.
Typ publikacji:: Case Reports; Journal Article; Review
Język:: English
Imprint Name(s):: Publication: London : Wiley-Blackwell
Original Publication: Tokyo, Japanese Dermatological Association, <-2005>
MeSH Terms:: Adaptor Proteins, Signal Transducing/*genetics
Cytoskeletal Proteins/*genetics
Fathers ; Humans ; Inflammation/genetics ; Male ; Metal Metabolism, Inborn Errors/genetics ; Mutation ; Mutation, Missense ; Syndrome
References:: Klotgen HW, Beltraminelli H, Yawalkar N, van Gijn ME, Holzinger D, Borradori L. The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond. Br J Dermatol 2018; 178: 982-983.
Dai P, Furlong T, Gracie G et al. Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p. E250K PSTPIP1 Mutation. J Clin Immunol 2019; 39: 519-522.
Sugiura T, Goto K, Ito K et al. Effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia. Acta Paediatr 2006; 95: 857-860.
Demidowich AP, Freeman AF, Kuhns DB et al. Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). Arthritis Rheum 2012; 64: 2022-2027.
Belelli E, Passarelli C, Pardeo M, Holzinger D, De Benedetti F, Insalaco A. Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1. Clin Exp Rheumatol 2017; 35(Suppl 108): 113-115.
Sampson B, Fagerhol MK, Sunderkotter C et al. Hyperzincaemia and hypercalprotectinaemia: a new disorder of zinc metabolism. Lancet 2002; 360: 1742-5.
Isidor B, Poignant S, Corradini N et al. Hyperzincemia and hypercalprotectinemia: unsuccessful treatment with tacrolimus. Acta Paediatr 2009; 98: 410-412.
Lindwall E, Singla S, Davis WE, Quinet RJ. Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. Semin Arthritis Rheum 2015; 45: 91-93.
Hashmi SK, Bergstrom K, Bertuch AA et al. PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia. Pediatr Blood Cancer 2019; 66: e27439.
Lee H, Park SH, Kim SK, Choe JY, Park JS. Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab. Clin Exp Rheumatol 2012; 30: 452.
Mejbri M, Theodoropoulou K, Hofer M. Pstpip1-associated myeloid-related Proteinemia inflammatory syndrome/Pami syndrome: case report and review of the literature. Ann Rheum Dis 2019; 78: 977-978.
Fessatou S, Fagerhol MK, Roth J et al. Severe anemia and neutropenia associated with hyperzincemia and hypercalprotectinemia. J Pediatr Hematol Oncol 2005; 27: 477-480.
Holzinger D, Fassl SK, de Jager W et al. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Immunol 2015; 136: 1337-1345.
Campbell L, Raheem I, Malemud CJ, Askari AD. The Relationship between NALP3 and Autoinflammatory Syndromes. Int J Mol Sci 2016; 17: 725.
Nakamichi S, Origuchi T, Fukui S et al. A rare case of cryopyrin-associated periodic syndrome in an elderly woman with NLRP3 and MEFV mutations. Intern Med 2019; 58: 1017-1022.
Maggio MC, Ceccherini I, Grossi A, Gattorno M, Corsello G. PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report. Ital J Pediatr 2019; 45: 111.
Grant Information:: 81601791 National Natural Science Foundation of China
Contributed Indexing:: Keywords: PSTPIP1; PAMI; acne; leukopenia; mutation
Substance Nomenclature:: 0 (Adaptor Proteins, Signal Transducing)
0 (Cytoskeletal Proteins)
0 (PSTPIP1 protein, human)
SCR Disease Name:: Hyperzincemia and Hypercalprotectinemia
Entry Date(s):: Date Created: 20210118 Date Completed: 20210514 Latest Revision: 20220531
Update Code:: 20240105
DOI:: 10.1111/1346-8138.15706
PMID:: 33458872
: Czasopismo naukowe

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PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome has been described as a rare and distinct clinical phenotype of PSTPIP1-associated inflammatory diseases. We report PSTPIP1 mutation in both father and son who have leukopenia and acne-like lesions. Through whole-exome sequencing on blood DNA, it is found a heterozygous mutation of PSTPIP1 gene c.748G>A on the father and son. The diagnosis of PAMI is made based on DNA sequencing results and clinical characteristics of typical lesions, leukopenia, and the markedly increased serum S100A8/A9 (calprotectin).
(© 2021 Japanese Dermatological Association.)

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