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 t
The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood / BARROETA SEIJAS, AMAIRELYS BELEN; S., Graziani; C., Cancrini; A., Finocchi; S., Ferrari; R., Miniero; F., Conti; R., Zuntini; L., Chini; P., Chiarello; M., Bengala; P., Rossi; V., Moschese; G., DI MATTEO. - In: INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY. - ISSN 0394-6320. - STAMPA. - 25:2(2012), pp. 407-414.
The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood
BARROETA SEIJAS, AMAIRELYS BELEN;
2012
Abstract
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 tI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
