ArticleImmunity, inflammation and disease2025
Functional Characterization of an IL2RG Variant, a Case Report of X-Linked T- B + NK + SCID.
Article in Immunity, inflammation and disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Functional Characterization of an IL2RG Variant, a Case Report of X-Linked T- B + NK + SCID.Immunity, inflammation and disease · 2025Article
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12 authors.
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Abstract
objectivesPathogenic variants in IL2RG, encoding the common γ chain (γ
methodsThe immunological work-up of our patient comprised: whole genome sequencing and subsequent bioinformatics, flow-cytometry (lymphocyte surface receptor expression, STAT5 phosphorylation, NK cell proliferation and degranulation), lymphocyte stimulation (IL-2, IL-4 and IL-15) as well as restriction enzyme digestion and fragment size separation (evaluation of relative WT/variant expression).
findingsOur patient, hemizygous for a maternally derived, c.677 G > A IL2RG missense variant displayed a T - B + NK+ phenotype, no dysmorphic features and no thymus. The γ
conclusionThe selective WT IL2RG expression in maternal B cells was consistent with the compromised IL-4R signaling (and compromised IL-21R signaling) in her offspring (the patient), as both IL-4 and IL-21 are critical for normal human B cell germinal center reactions but not for peripheral B cell homeostasis. The c.677 G > A IL2RG variant permitted normal NK cell degranulation and initial STAT5 phosphorylation but was incapable of sustaining normal NK cell activation and proliferation in vitro. As IL-2 and IL-15 induced in-vitro NK cell proliferation is primarily mediated through the low affinity βγ
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