PMID- 38540337
OWN - NLM
STAT- MEDLINE
DCOM- 20240329
LR  - 20240330
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 15
IP  - 3
DP  - 2024 Feb 23
TI  - Human Leukocyte Antigen Markers for Distinguishing Pustular Psoriasis and 
      Adult-Onset Immunodeficiency with Pustular Reaction.
LID - 10.3390/genes15030278 [doi]
LID - 278
AB  - Pustular skin diseases, with pustular psoriasis (PP) being the prototype, are 
      immune-mediated diseases characterized by the presence of multiple pustules, 
      resulting from neutrophil accumulation in the layer of epidermis. Sterile skin 
      pustular eruption, like PP, is also observed in 20-30% of patients with 
      adult-onset immunodeficiency syndrome (AOID) and anti-interferon gamma autoantibodies 
      (IFN-gamma), leading to challenges in classification and diagnosis. While the 
      mechanism underlying this similar phenotype remains unknown, genetic factors in 
      relation to the immune system are suspected of playing an important role. Here, 
      the association between human leukocyte antigen (HLA) genes, which play essential 
      roles in antigen presentation, contributing to immune response, and the presence 
      of skin pustules in AOID and PP was revealed. HLA genotyping of 41 patients from 
      multiple centers in Thailand who presented with multiple sterile skin pustules 
      (17 AOID patients and 24 PP patients) was conducted using a 
      next-generation-sequencing-based approach. In comparison to healthy controls, 
      HLA-B*13:01 (OR = 3.825, 95%CI: 2.08-7.035), C*03:04 (OR = 3.665, 95%CI: 
      2.102-6.39), and DQB1*05:02 (OR = 2.134, 95%CI: 1.326-3.434) were significantly 
      associated with the group of aforementioned conditions having sterile cutaneous 
      pustules, suggesting a common genetic-related mechanism. We found that DPB1*05:01 
      (OR = 3.851, p = 0.008) and DRB1*15:02 (OR = 3.195, p = 0.033) have a significant 
      association with pustular reaction in AOID patients, with PP patients used as a 
      control. A variant in the DRB1 gene, rs17885482 (OR = 9.073, p = 0.005), was 
      observed to be a risk factor for PP when using AOID patients who had pustular 
      reactions as a control group. DPB1*05:01 and DRB1*15:02 alleles, as well as the 
      rs17885482 variant in the DRB1 gene, were proposed as novel biomarkers to 
      differentiate PP and AOID patients who first present with multiple sterile skin 
      pustules without known documented underlying conditions.
FAU - Sangphukieo, Apiwat
AU  - Sangphukieo A
AUID- ORCID: 0000-0001-5210-5398
AD  - Center of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty 
      of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
FAU - Thongkumkoon, Patcharawadee
AU  - Thongkumkoon P
AD  - Center of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty 
      of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
FAU - Noisagul, Pitiporn
AU  - Noisagul P
AD  - Center of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty 
      of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
FAU - Lo Piccolo, Luca
AU  - Lo Piccolo L
AUID- ORCID: 0000-0003-0558-356X
AD  - Center of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty 
      of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
FAU - O'Brien, Timothy E
AU  - O'Brien TE
AD  - Applied and Environmental Statistics, Department of Mathematics and Statistics, 
      Loyola University Chicago, Chicago, IL 60153, USA.
FAU - Chaowattanapanit, Suteeraporn
AU  - Chaowattanapanit S
AD  - Division of Dermatology, Department of Medicine, Faculty of Medicine, Khon Kaen 
      University, Khon Kaen 40002, Thailand.
FAU - Choonhakarn, Charoen
AU  - Choonhakarn C
AD  - Division of Dermatology, Department of Medicine, Faculty of Medicine, Khon Kaen 
      University, Khon Kaen 40002, Thailand.
FAU - Amornpinyo, Warayuwadee
AU  - Amornpinyo W
AD  - Division of Dermatology, Department of Internal Medicine, Khon Kaen Hospital, 
      Ministry of Public Health, Khon Kaen 40002, Thailand.
FAU - Chaiwarith, Romanee
AU  - Chaiwarith R
AUID- ORCID: 0000-0002-1241-5954
AD  - Division of Infectious Diseases and Tropical Medicine, Department of Internal 
      Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
FAU - Kiratikanon, Salin
AU  - Kiratikanon S
AUID- ORCID: 0000-0002-1597-7290
AD  - Division of Dermatology, Department of Internal Medicine, Faculty of Medicine, 
      Chiang Mai University, Chiang Mai 50200, Thailand.
FAU - Rujiwetpongstorn, Rujira
AU  - Rujiwetpongstorn R
AUID- ORCID: 0000-0002-0256-9343
AD  - Division of Dermatology, Department of Internal Medicine, Faculty of Medicine, 
      Chiang Mai University, Chiang Mai 50200, Thailand.
FAU - Tovanabutra, Napatra
AU  - Tovanabutra N
AD  - Division of Dermatology, Department of Internal Medicine, Faculty of Medicine, 
      Chiang Mai University, Chiang Mai 50200, Thailand.
FAU - Chiewchanvit, Siri
AU  - Chiewchanvit S
AD  - Division of Dermatology, Department of Internal Medicine, Faculty of Medicine, 
      Chiang Mai University, Chiang Mai 50200, Thailand.
FAU - Kantaputra, Piranit
AU  - Kantaputra P
AUID- ORCID: 0000-0001-9841-0881
AD  - Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang 
      Mai 50200, Thailand.
AD  - Division of Pediatric Dentistry, Department of Orthodontics and Pediatric 
      Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, 
      Thailand.
FAU - Intachai, Worrachet
AU  - Intachai W
AUID- ORCID: 0000-0003-3543-8136
AD  - Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang 
      Mai 50200, Thailand.
FAU - Dissook, Sivamoke
AU  - Dissook S
AUID- ORCID: 0000-0002-0695-6682
AD  - Department of Biochemistry, Faculty of Medicine, Chiang Mai University, Chiang 
      Mai 50200, Thailand.
FAU - Chuamanochan, Mati
AU  - Chuamanochan M
AD  - Division of Dermatology, Department of Internal Medicine, Faculty of Medicine, 
      Chiang Mai University, Chiang Mai 50200, Thailand.
LA  - eng
GR  - No.001-2565/Faculty of Medicine Research Fund/
GR  - TGCMU2566P011/2566/Chiang Mai University/
PT  - Journal Article
DEP - 20240223
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
RN  - 0 (Histocompatibility Antigens Class II)
RN  - 0 (HLA Antigens)
RN  - 0 (Autoantibodies)
SB  - IM
MH  - Adult
MH  - Humans
MH  - Histocompatibility Antigens Class II
MH  - HLA Antigens/genetics
MH  - *Psoriasis/diagnosis/genetics
MH  - *Skin Diseases, Vesiculobullous
MH  - Autoantibodies
PMC - PMC10970016
OTO - NOTNLM
OT  - adult-onset immunodeficiency
OT  - anti-interferon gamma autoantibodies
OT  - human leukocyte antigen
OT  - pustular psoriasis
OT  - pustular reaction
OT  - pustular skin diseases
COIS- The authors state no conflicts of interest.
EDAT- 2024/03/28 06:44
MHDA- 2024/03/29 06:46
PMCR- 2024/02/23
CRDT- 2024/03/28 01:07
PHST- 2023/11/27 00:00 [received]
PHST- 2024/02/13 00:00 [revised]
PHST- 2024/02/20 00:00 [accepted]
PHST- 2024/03/29 06:46 [medline]
PHST- 2024/03/28 06:44 [pubmed]
PHST- 2024/03/28 01:07 [entrez]
PHST- 2024/02/23 00:00 [pmc-release]
AID - genes15030278 [pii]
AID - genes-15-00278 [pii]
AID - 10.3390/genes15030278 [doi]
PST - epublish
SO  - Genes (Basel). 2024 Feb 23;15(3):278. doi: 10.3390/genes15030278.