PMID- 38001910
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231128
IS  - 2227-9059 (Print)
IS  - 2227-9059 (Electronic)
IS  - 2227-9059 (Linking)
VI  - 11
IP  - 11
DP  - 2023 Oct 27
TI  - HLA-DRB1*14:54 Is Associated with Pulmonary Alveolar Proteinosis: A Retrospective 
      Real-World Audit.
LID - 10.3390/biomedicines11112909 [doi]
LID - 2909
AB  - BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease 
      characterized by abnormal accumulation of pulmonary surfactant lipids in alveoli 
      or terminal bronchioles, leading to increased infection risk and progressive 
      respiratory failure. Approximately more than 90% of all cases are autoimmune PAP 
      (aPAP). Since one of the predisposing factors has been identified as genes 
      located within the major-histocompatibility-complex region, an investigation of 
      human leukocyte antigen (HLA) alleles associated with the risk of aPAP is 
      warranted. METHODS: We retrospectively studied 60 patients pathologically 
      diagnosed with PAP from 2019 to 2022. Patients were divided into the aPAP group 
      or secondary PAP (sPAP) group according to their clinical information. Qualified 
      DNA was extracted from the paraffin-embedded tissue of 28 patients, and the 
      PCR-sequence-based typing method was used for HLA-DRB1 genotyping. RESULTS: A 
      similar HLA-DRB1 allele profile (including the HLA-DRB1*08:03) between the aPAP 
      group and sPAP group was revealed, except that HLA-DRB1*14:54, which has never 
      been reported in aPAP patients, was only detected in the aPAP group rather than 
      the sPAP group (19.4% vs. 0.0%, p = 0.030). Under inhaled granulocyte-macrophage 
      colony-stimulating factor therapy, more clinical remission was observed in 
      HLA-DRB1*14:54 carriers rather than in HLA-DRB1*08:03 carriers (80.0% vs. 57.1%). 
      CONCLUSIONS: Our real-world study revealed for the first time that a population 
      with HLA-DRB1*14:54 was subject to aPAP, and HLA-DRB1*14:54 might imply a 
      response in aPAP patients to inhaled granulocyte-macrophage colony-stimulating 
      factor in aPAP patients.
FAU - Li, Mengqian
AU  - Li M
AUID- ORCID: 0000-0002-0524-339X
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, 
      China.
FAU - Liu, Qinglin
AU  - Liu Q
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, 
      China.
FAU - Wang, Weiwen
AU  - Wang W
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, 
      China.
FAU - Jiang, Lili
AU  - Jiang L
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, 
      China.
LA  - eng
GR  - 23NSFSC4588/Natural Science Foundation of Sichuan Province/
GR  - 2019HXFH002/1.3.5 Project for Disciplines of Excellence-Clinical Research 
      Incubation Project/
PT  - Journal Article
DEP - 20231027
PL  - Switzerland
TA  - Biomedicines
JT  - Biomedicines
JID - 101691304
PMC - PMC10669482
OTO - NOTNLM
OT  - HLA-DRB1*08:03
OT  - HLA-DRB1*14:54
OT  - autoimmune diseases
OT  - pulmonary alveolar proteinosis
COIS- The authors declare no conflict of interest.
EDAT- 2023/11/25 12:42
MHDA- 2023/11/25 12:43
PMCR- 2023/10/27
CRDT- 2023/11/25 01:07
PHST- 2023/09/19 00:00 [received]
PHST- 2023/10/14 00:00 [revised]
PHST- 2023/10/23 00:00 [accepted]
PHST- 2023/11/25 12:43 [medline]
PHST- 2023/11/25 12:42 [pubmed]
PHST- 2023/11/25 01:07 [entrez]
PHST- 2023/10/27 00:00 [pmc-release]
AID - biomedicines11112909 [pii]
AID - biomedicines-11-02909 [pii]
AID - 10.3390/biomedicines11112909 [doi]
PST - epublish
SO  - Biomedicines. 2023 Oct 27;11(11):2909. doi: 10.3390/biomedicines11112909.