PMID- 33258504
OWN - NLM
STAT- MEDLINE
DCOM- 20210514
LR  - 20220531
IS  - 1346-8138 (Electronic)
IS  - 0385-2407 (Linking)
VI  - 48
IP  - 2
DP  - 2021 Feb
TI  - Pemphigus vulgaris in two pairs of siblings from two unrelated Italian families: 
      Human leukocyte antigen genotypes, ST18 mutation and immunological profile.
PG  - 211-214
LID - 10.1111/1346-8138.15656 [doi]
AB  - Pemphigus vulgaris (PV) is an autoimmune intraepithelial bullous disease. 
      Associations with the class II human leukocyte antigen (HLA) alleles and 
      pemphigus vulgaris have been described. Furthermore, an association between the 
      single nucleotide polymorphism of the ST18 gene and pemphigus vulgaris has been 
      reported. We report two pairs of siblings from two unrelated Italian families 
      affected by pemphigus vulgaris, characterizing their genetic and immunological 
      profile. In order to assess the genetic background, HLA-DQA1, HLA-DQB1, HLA-DRB1 
      and a relevant ST18 polymorphism were investigated. As for the immunological 
      profiles, anti-desmoglein antibodies were analyzed. In family A, the two 
      pemphigus vulgaris patients had the same HLA genetic profile: HLA-DQA1 
      *01:04/*03:01, HLA-DQB1 *03:02/*05:03 and HLA-DRB1 *04:02/*14:01. The male 
      patient was heterozygous for the ST18 mutation while the female patient had a 
      wild genotype. In family B, the two pemphigus vulgaris patients were both wild 
      type for the ST18 mutation and showed the same HLA genotype: HLA-DQA1 
      *03:01/*05:08, HLA-DQB1 *03:01/*03:03 and HLA-DRB1 *04:02/*11:01. Our data show a 
      relevant relationship between the HLA profile and pemphigus vulgaris in our 
      Italian families. In family A, all six alleles are frequently associated with 
      pemphigus vulgaris and were expressed only in the two pemphigus patients; and in 
      family B, two of the six alleles are frequently associated with pemphigus 
      vulgaris. No relevant relationship was found between ST18 polymorphism and 
      pemphigus disease.
CI  - (c) 2020 Japanese Dermatological Association.
FAU - Fania, Luca
AU  - Fania L
AD  - First Dermatology Division, IDI-IRCCS, Rome, Italy.
FAU - Moro, Francesco
AU  - Moro F
AUID- ORCID: 0000-0003-0031-941X
AD  - First Dermatology Division, IDI-IRCCS, Rome, Italy.
FAU - De Paolis, Elisa
AU  - De Paolis E
AD  - Molecular Diagnostics and Genomics Laboratory, Fondazione Policlinico 
      Universitario A. Gemelli IRCCS, Italy.
FAU - Provini, Alessia
AU  - Provini A
AD  - First Dermatology Division, IDI-IRCCS, Rome, Italy.
FAU - Salemme, Adele
AU  - Salemme A
AD  - Molecular and Cell Biology Laboratory, Italy.
FAU - Mariotti, Feliciana
AU  - Mariotti F
AD  - Molecular and Cell Biology Laboratory, Italy.
FAU - Sinagra, Jo Linda Maria
AU  - Sinagra JLM
AD  - Molecular and Cell Biology Laboratory, Italy.
FAU - Mazzanti, Cinzia
AU  - Mazzanti C
AD  - First Dermatology Division, IDI-IRCCS, Rome, Italy.
FAU - Ruzzi, Laura
AU  - Ruzzi L
AD  - Clinical Analysis Laboratory, IDI-IRCCS, Rome, Italy.
FAU - Capoluongo, Ettore
AU  - Capoluongo E
AD  - Advanced Biotechnology, Department of Molecular Medicine and Medical 
      Biotechnology, Federico II University - CEINGE, Naples, Italy.
FAU - Di Zenzo, Giovanni
AU  - Di Zenzo G
AD  - Molecular and Cell Biology Laboratory, Italy.
LA  - eng
GR  - Ministero della Salute/
PT  - Case Reports
PT  - Journal Article
DEP - 20201201
PL  - England
TA  - J Dermatol
JT  - The Journal of dermatology
JID - 7600545
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (Repressor Proteins)
RN  - 0 (ST18 protein, human)
SB  - IM
MH  - Alleles
MH  - Female
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - *HLA-DQ beta-Chains/genetics
MH  - *HLA-DRB1 Chains/genetics
MH  - Haplotypes
MH  - Humans
MH  - Italy
MH  - Male
MH  - Mutation
MH  - *Pemphigus/genetics
MH  - Repressor Proteins
MH  - Siblings
OTO - NOTNLM
OT  - ST18 gene
OT  - antibodies
OT  - bullous disease
OT  - human leukocyte antigen
OT  - pemphigus vulgaris
EDAT- 2020/12/02 06:00
MHDA- 2021/05/15 06:00
CRDT- 2020/12/01 08:37
PHST- 2020/07/13 00:00 [received]
PHST- 2020/09/18 00:00 [accepted]
PHST- 2020/12/02 06:00 [pubmed]
PHST- 2021/05/15 06:00 [medline]
PHST- 2020/12/01 08:37 [entrez]
AID - 10.1111/1346-8138.15656 [doi]
PST - ppublish
SO  - J Dermatol. 2021 Feb;48(2):211-214. doi: 10.1111/1346-8138.15656. Epub 2020 Dec 
      1.