Letter to the EditorDefective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients
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Cited by (15)
Exogenous L-fucose attenuates neuroinflammation induced by lipopolysaccharide
2024, Journal of Biological ChemistryERBIN and phosphoglucomutase 3 deficiency
2023, Current Opinion in ImmunologyInborn errors of immunity: Recent progress
2021, Journal of Allergy and Clinical ImmunologyCitation Excerpt :Nahum et al30 reported 4 patients with a homozygous pathogenic variant in the IL-6 receptor (IL6R), who presented with susceptibility to infection, low fever, atopy, and severe eczema, confirming findings of previously reported patients.31 Ben-Ali et al32 demonstrated impaired gp130-mediated STAT3 signaling in phosphoglucomutase 3–deficient patients presenting with AR-HIES, explaining the phenotype similarities with STAT3-deficient HIES. Shafer et al33 reported the absence of IL-17–mediated signaling in 2 patients with chronic mucocutaneous candidiasis due to absent expression of TRAF3 interacting protein 2 (TRAF3IP2).33
Inborn errors of IL-6 family cytokine responses
2021, Current Opinion in ImmunologyCitation Excerpt :Patients with biallelic loss-of-function variants in phosphoglucomutase 3 (PGM3), present with an AR disorder including several features of classical HIES including increased serum IgE levels, recurrent skin and pulmonary infections, abscesses and bronchiectasis [38–40]. This can be partially explained by defective glycosylation of GP130 in theses patients causing lower GP130 surface expression and impaired STAT3 activation [41] (Figure 2). However, defective glycosylation of GP130 is likely only one aspect of the PGM3 associated pathology.
Monogenetic causes of fungal disease: recent developments
2020, Current Opinion in MicrobiologyCitation Excerpt :However, cryptococcal meningitis and abscesses, Aspergillus sinopulmonary infection and brain abscesses, and Histoplasma pneumonia are rarely reported in DOCK8-deficient patients [47]. Defective glycosylation in patients deficient in the cytosolic enzyme PGM3 reduces the expression of unglycosylated gp130 and impairs gp130-dependent STAT3 phosphorylation, which may explain Candida infections in some of these patients [48]. TYK2 is a member of the Janus kinase family that plays a significant role in the signaling receptors of group 1 and 2 cytokines such as IL-10, IL-12, IL-23, and IFN-α/β [49], while some TYK2-deficient patients have been found to suffer from fungal infections such as mild oral candidiasis caused by C. albicans [50].
Primary immune deficiencies associated with a Th2 diathesis
2020, Stiehm's Immune Deficiencies: Inborn Errors of Immunity
This work was supported by the Tunisian Ministry of Higher Education and Research (grant no. LR11IPT02).
Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest.
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These authors contributed equally to this work.