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• W2807020737 abstract "Introduction: Common variable immunodeficiency disorders (CVID) are the most frequent symptomatic primary immune defect in adults. Within the broad spectrum of CVID, a proportion of patients present with a predominant T cell phenotype associated with increased mortality. These patients are termed late-onset combined immunodeficiency (LOCID) and are currently separated from patients suffering from CVID.Areas covered: We have recently codiscovered a new CVID-like disorder caused by mutations of the NFKB1 gene. Members of this non-consanguineous New Zealand kindred have a very diverse spectrum of phenotypes in spite of carrying the identical mutation. The proband appears to have the autoimmune variant. The proband’s recently deceased sister best matched LOCID while other family members are less severely affected, including one asymptomatic adult brother, who has an affected daughter. Differences in genetics was one of the main arguments for separating these disorders in the past.Expert commentary: Given the recent advances in the understanding of the genetic basis of these conditions, we present the case that LOCID should now be considered a subset of CVID, rather than a separate disorder. At a clinical level, this distinction is less important but it is imperative these patients are carefully evaluated, the relevant complications are treated, and they are offered prognostic information." @default.
• W2807020737 created "2018-06-13" @default.
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• W2807020737 date "2018-06-26" @default.
• W2807020737 modified "2023-09-27" @default.
• W2807020737 title "Keeping it in the family: the case for considering late-onset combined immunodeficiency a subset of common variable immunodeficiency disorders" @default.
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• W2807020737 doi "https://doi.org/10.1080/1744666x.2018.1481750" @default.
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