Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.
PSTPIP1
PAMI
acne
leukopenia
mutation
Journal
The Journal of dermatology
ISSN: 1346-8138
Titre abrégé: J Dermatol
Pays: England
ID NLM: 7600545
Informations de publication
Date de publication:
Apr 2021
Apr 2021
Historique:
revised:
18
10
2020
received:
27
05
2020
accepted:
30
10
2020
pubmed:
19
1
2021
medline:
15
5
2021
entrez:
18
1
2021
Statut:
ppublish
Résumé
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).
Identifiants
pubmed: 33458872
doi: 10.1111/1346-8138.15706
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
Cytoskeletal Proteins
0
PSTPIP1 protein, human
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
519-528Subventions
Organisme : National Natural Science Foundation of China
ID : 81601791
Informations de copyright
© 2021 Japanese Dermatological Association.
Références
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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.
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