Atypical Phenotype of Predominant Autoimmune Cytopenia and
Impaired Perforin Expression in XMEN Syndrome

J 2025

Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome

GROMBIŘÍKOVÁ, Hana; Adam MARKOCSY; Anna KOCURKOVÁ; Jan BLATNÝ; Marcela VLKOVÁ et al.

Základní údaje

Originální název

Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome

Autoři

Vydání

JOURNAL OF IMMUNOLOGY RESEARCH, HOBOKEN, WILEY, 2025, 2314-8861

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.600 v roce 2024

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/25:00143514

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

autoimmune haemolytic anaemia; autoimmune cytopenia; congenital disorders of glycosylation; immune thrombocytopenia; MAGT;; perforin; XMEN

Štítky

14110114, 14110321, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 13. 3. 2026 09:01, Mgr. Tereza Miškechová

Anotace

V originále

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN) is caused by a pathogenic variant in the magnesium transporter 1 (MAGT1) gene. The defect leads to impaired N-glycosylation which affects various immune processes. In this study, we described the disease course, clinical features and laboratory parameters observed in six patients from three families diagnosed with XMEN syndrome. They exhibit heterogeneous clinical manifestation while displaying typical laboratory signs of the disease, including decreased surface expression of NKG2D and CD28 on CD8+ T-cells and NK cells, as well as defects in the N-glycosylation of transferrin. We identified two novel variants in the cohort: a frameshift variant c.444dup in exon 3, and a splicing variant c.998-20_1008del. Notably, a patient with the c.444dup variant presented with severe autoimmune cytopenia as an isolated manifestation of the disease, while his younger brother, carrying the same variant, exhibited predominantly mild skin infections. These findings illustrate varying degrees of severity in penetrance and highlight that some patients may exhibit only partial symptoms. Furthermore, our study confirmed defects in perforin expression in XMEN syndrome. We observed a significant reduction in perforin expression within CD8+ T-cells and NK cells which may lead to increased susceptibility to recurrent infections and autoimmune complications frequently observed in XMEN patients.

Návaznosti

MUNI/A/1566/2023, interní kód MU

Název: Patogeneze imunopatologických chorob

Investor: Masarykova univerzita, Patogeneze imunopatologických chorob

MUNI/A/1716/2024, interní kód MU

Název: Imunopatologické choroby - jejich etiologie, patogenza a diagnostika

Investor: Masarykova univerzita, Imunopatologické choroby - jejich etiologie, patogenza a diagnostika

Citovat

GROMBIŘÍKOVÁ, Hana; Adam MARKOCSY; Anna KOCURKOVÁ; Jan BLATNÝ; Marcela VLKOVÁ; Peter SLANINA; Eva HLAVÁČKOVÁ; Veronika FIAMOLI; Helena SCHNEIDEROVÁ; Adam KLOCPERK; Dita ŘÍČNÁ; Eva FRONKOVA; Jan KRAL; Anna SALINGOVA; Milos JESENAK a Tomáš FREIBERGER. Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome. JOURNAL OF IMMUNOLOGY RESEARCH. HOBOKEN: WILEY, 2025, roč. 2025, č. 1, s. 1-14. ISSN 2314-8861. Dostupné z: https://doi.org/10.1155/jimr/3161910.

@article{2549338,
   author = {Grombiříková, Hana and Markocsy, Adam and Kocurková, Anna and Blatný, Jan and Vlková, Marcela and Slanina, Peter and Hlaváčková, Eva and Fiamoli, Veronika and Schneiderová, Helena and Klocperk, Adam and Říčná, Dita and Fronkova, Eva and Kral, Jan and Salingova, Anna and Jesenak, Milos and Freiberger, Tomáš},
   article_location = {HOBOKEN},
   article_number = {1},
   doi = {https://doi.org/10.1155/jimr/3161910},
   keywords = {autoimmune haemolytic anaemia; autoimmune cytopenia; congenital disorders of glycosylation; immune thrombocytopenia; MAGT;; perforin; XMEN},
   language = {eng},
   issn = {2314-8861},
   journal = {JOURNAL OF IMMUNOLOGY RESEARCH},
   title = {Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome},
   url = {https://onlinelibrary.wiley.com/doi/10.1155/jimr/3161910?utm_medium=article&utm_source=researchgate.net},
   volume = {2025},
   year = {2025}
}

TY  - JOUR
ID  - 2549338
AU  - Grombiříková, Hana - Markocsy, Adam - Kocurková, Anna - Blatný, Jan - Vlková, Marcela - Slanina, Peter - Hlaváčková, Eva - Fiamoli, Veronika - Schneiderová, Helena - Klocperk, Adam - Říčná, Dita - Fronkova, Eva - Kral, Jan - Salingova, Anna - Jesenak, Milos - Freiberger, Tomáš
PY  - 2025
TI  - Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome
JF  - JOURNAL OF IMMUNOLOGY RESEARCH
VL  - 2025
IS  - 1
SP  - 1-14
EP  - 1-14
PB  - WILEY
SN  - 23148861
KW  - autoimmune haemolytic anaemia
KW  - autoimmune cytopenia
KW  - congenital disorders of glycosylation
KW  - immune thrombocytopenia
KW  - MAGT;
KW  - perforin
KW  - XMEN
UR  - https://onlinelibrary.wiley.com/doi/10.1155/jimr/3161910?utm_medium=article&utm_source=researchgate.net
N2  - X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN) is caused by a pathogenic variant in the magnesium transporter 1 (MAGT1) gene. The defect leads to impaired N-glycosylation which affects various immune processes. In this study, we described the disease course, clinical features and laboratory parameters observed in six patients from three families diagnosed with XMEN syndrome. They exhibit heterogeneous clinical manifestation while displaying typical laboratory signs of the disease, including decreased surface expression of NKG2D and CD28 on CD8+ T-cells and NK cells, as well as defects in the N-glycosylation of transferrin. We identified two novel variants in the cohort: a frameshift variant c.444dup in exon 3, and a splicing variant c.998-20_1008del. Notably, a patient with the c.444dup variant presented with severe autoimmune cytopenia as an isolated manifestation of the disease, while his younger brother, carrying the same variant, exhibited predominantly mild skin infections. These findings illustrate varying degrees of severity in penetrance and highlight that some patients may exhibit only partial symptoms. Furthermore, our study confirmed defects in perforin expression in XMEN syndrome. We observed a significant reduction in perforin expression within CD8+ T-cells and NK cells which may lead to increased susceptibility to recurrent infections and autoimmune complications frequently observed in XMEN patients.
ER  -

GROMBIŘÍKOVÁ, Hana; Adam MARKOCSY; Anna KOCURKOVÁ; Jan BLATNÝ; Marcela VLKOVÁ; Peter SLANINA; Eva HLAVÁČKOVÁ; Veronika FIAMOLI; Helena SCHNEIDEROVÁ; Adam KLOCPERK; Dita ŘÍČNÁ; Eva FRONKOVA; Jan KRAL; Anna SALINGOVA; Milos JESENAK a Tomáš FREIBERGER. Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome. \textit{JOURNAL OF IMMUNOLOGY RESEARCH}. HOBOKEN: WILEY, 2025, roč.~2025, č.~1, s.~1-14. ISSN~2314-8861. Dostupné z: https://doi.org/10.1155/jimr/3161910.

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