2 results match your criteria: "Centro Malattie Autoinfiammatorie e Immunodeficienze- Clinica Pediatrica e Reumatologia[Affiliation]"
Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.
J Allergy Clin Immunol
August 2020
Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy. Electronic address:
Article Synopsis
- X-linked agammaglobulinemia (XLA) is a primary immunodeficiency that leads to an increased risk of infections and chronic health issues, but long-term outcome data has been limited.
- A nationwide study in Italy followed 168 patients over an average of 8.35 years, revealing that symptoms like respiratory issues and chronic lung disease were common, while immunoglobulin therapy helped reduce severe infections.
- The study found that XLA patients had significantly lower overall survival compared to healthy individuals, particularly those with chronic lung complications, highlighting the need for improved management and physician awareness.
Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab.
Pediatr Rheumatol Online J
July 2019
Centro Malattie Autoinfiammatorie e Immunodeficienze- Clinica Pediatrica e Reumatologia, IRCCS Giannina Gaslini, Via Gaslini 5, 16147, Genova, Italy.
Background: Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) is a rare condition associated with plaque-type psoriasis, generalized pustular psoriasis, palmoplantar pustular psoriasis and pityriasis rubra pilaris. Recently, a new CARD14 -associated phenotype defined as CAPE (CARD14-associated papulosquamous eruption) with clinical features of both psoriasis and pityriasis rubra pilaris was reported. We describe a family carrying a novel heterozygous mutation in CARD14 gene, with childhood-onset erythrodermic psoriasis requiring an unusual extremely high dose (up to 2 mg/kg every 8 weeks) of ustekinumab to achieve disease remission.
View Article and Find Full Text PDF