Article
Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.
The Journal of dermatology - 1 Apr 2021
Huang Xiaowen, Xu Meinian, Dai Siqi, Wang Menglei, Zheng Huanxin, Zeng Kang, Li Li
Abstract excerpt
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...
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