The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood

The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood

Common variable immunodeficiency (CVID) is considered the most common symptomatic antibody deficiency and, although mainly reported in adults, it may present from childhood. Few data on the impact of TACI defects on the clinical and immunological status of children are available. We screened 42 hypo...

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Bibliographic Details
Published in:International journal of immunopathology and pharmacology Vol. 25; no. 2; p. 407
Main Authors: Barroeta Seijas, A B, Graziani, S, Cancrini, C, Finocchi, A, Ferrari, S, Miniero, R, Conti, F, Zuntini, R, Chini, L, Chiarello, P, Bengala, M, Rossi, P, Moschese, V, Di Matteo, G
Format: Journal Article
Language:English
Published: England 01-04-2012
Subjects:
Adolescent
Adult
Agammaglobulinemia - genetics
Agammaglobulinemia - immunology
Age Factors
Aged
Aging - genetics
Aging - immunology
Autoimmunity - genetics
Case-Control Studies
Child
Child, Preschool
Common Variable Immunodeficiency - genetics
Common Variable Immunodeficiency - immunology
Female
Gene Frequency
Genetic Predisposition to Disease
Heterozygote
Homozygote
Humans
Italy
Male
Middle Aged
Mutation
Pedigree
Phenotype
Transmembrane Activator and CAML Interactor Protein - genetics
Young Adult
Italy
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Summary:Common variable immunodeficiency (CVID) is considered the most common symptomatic antibody deficiency and, although mainly reported in adults, it may present from childhood. Few data on the impact of TACI defects on the clinical and immunological status of children are available. We screened 42 hypogammaglobulinemic children to investigate the frequency and mutational features of TACI defects. The genetic, clinical and immunological characterization was extended to 31 relatives of 11 children with TACI mutations. Of interest, our analysis showed a considerably higher mutation frequency in hypogammaglobulinemic children (13/42; 31%) than in other cohorts of adult patients. In seven out of nine families with the C104R variant, the prevalence of autoimmunity was significantly higher in C104R heterozygous relatives (8/15; 53%) than in those with no C104R mutation (1/11; 9%). Our data suggest a different impact of TACI mutations, from hypogammaglobulinemia in children to autoimmune disease in adulthood.
ISSN:0394-6320
DOI:10.1177/039463201202500210