PMID- 33409825
OWN - NLM
STAT- MEDLINE
DCOM- 20210514
LR  - 20210514
IS  - 1590-3478 (Electronic)
IS  - 1590-1874 (Linking)
VI  - 42
IP  - 5
DP  - 2021 May
TI  - In sickness and in health: when myasthenia gravis is a conjugal matter.
PG  - 2099-2101
LID - 10.1007/s10072-020-04944-y [doi]
AB  - OBJECTIVE: Genes and environment contribute to the multifactorial etiology of 
      autoimmune diseases. Familial clusters of autoimmune diseases are often observed 
      among first-degree relatives sharing the same genetic background and 
      environmental exposure. Rarer is the occurrence of the same autoimmune diseases 
      in non-consanguineous spouses. We hereinafter report two non-consanguineous 
      spouses who developed one after the other AChR-positive myasthenia gravis. 
      METHODS: This study has been approved by Catholic University Ethic Committee. The 
      wife, previously affected by Graves-Basedow disease, was the first to be 
      diagnosed with myasthenia gravis, basing on a generalized weakness and an 
      anti-AChR-positive assay. The husband, who suffered from ulcerative colitis, 
      16 years after his wife diagnosis complained of a mild generalized weakness. 
      Repetitive nerve stimulation test and anti-AChR assay were confirmed myasthenia 
      gravis. In these spouses, myasthenia gravis was not associated with thymoma. 
      Human leukocyte antigen (HLA) class II genotyping showed distinct associations, 
      with the wife carrying the DRB1*03:01 DQB1*02:01 and the husband the DRB1*07 
      DQB102 alleles. RESULTS: The wife's haplotype is strongly associated with 
      myasthenia gravis and thyroiditis whereas HLA DRB1*07 allele was found to be 
      related both to late-onset myasthenia gravis and ulcerative colitis. CONCLUSIONS: 
      Compared with other autoimmune disorders, myasthenia gravis has a lower 
      prevalence. The surveillance environmental exposure may greatly improve our 
      knowledge of non-genetic drivers of autoimmunity.
FAU - Alboini, Paolo Emilio
AU  - Alboini PE
AUID- ORCID: 0000-0002-9193-8816
AD  - Neurology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale 
      Cappuccini, 1, 71013, San Giovanni Rotondo, FG, Italy. 
      paoloemilio.alboini84@gmail.com.
FAU - Spagni, Gregorio
AU  - Spagni G
AD  - Institute of Neurology, Fondazione Policlinico Universitario Agostino Gemelli, 
      IRCCS, Largo A. Gemelli, 8, 00168, Rome, Italy.
FAU - Evoli, Amelia
AU  - Evoli A
AD  - Institute of Neurology, Fondazione Policlinico Universitario Agostino Gemelli, 
      IRCCS, Largo A. Gemelli, 8, 00168, Rome, Italy.
LA  - eng
PT  - Journal Article
DEP - 20210107
PL  - Italy
TA  - Neurol Sci
JT  - Neurological sciences : official journal of the Italian Neurological Society and 
      of the Italian Society of Clinical Neurophysiology
JID - 100959175
RN  - 0 (HLA-DQ beta-Chains)
SB  - IM
MH  - Alleles
MH  - HLA-DQ beta-Chains/genetics
MH  - Humans
MH  - *Myasthenia Gravis/epidemiology/genetics
MH  - *Thymoma
MH  - *Thymus Neoplasms
OTO - NOTNLM
OT  - Environment
OT  - Gene expression studies
OT  - HLA association
OT  - Myasthenia
OT  - Risk factors in epidemiology
EDAT- 2021/01/08 06:00
MHDA- 2021/05/15 06:00
CRDT- 2021/01/07 06:12
PHST- 2020/08/24 00:00 [received]
PHST- 2020/11/25 00:00 [accepted]
PHST- 2021/01/08 06:00 [pubmed]
PHST- 2021/05/15 06:00 [medline]
PHST- 2021/01/07 06:12 [entrez]
AID - 10.1007/s10072-020-04944-y [pii]
AID - 10.1007/s10072-020-04944-y [doi]
PST - ppublish
SO  - Neurol Sci. 2021 May;42(5):2099-2101. doi: 10.1007/s10072-020-04944-y. Epub 2021 
      Jan 7.