Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation

Niccoló Riccardi; Gioacchino Andrea Rotulo; Federica Favilli; Anna Loy; Daniele Moratto; Silvia Giliani; Alessio Mesini; Maria Victoria Romanini; Stefano Volpi; Andrea Moscatelli; Elio Castagnola

Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation

Infez Med. 2019 Mar 1;27(1):73-76.

Affiliations

¹ Infectious Disease Department, Ospedale policlinico San Martino, University of Genoa, Italy.
² Infectious Disease Unit, Istituto Giannina Gaslini, University of Genoa, Italy.
³ Cytogenetic and Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital, Department of Molecular and Translational Medicine, University of Brescia, Italy.
⁴ Infectious Diseases Department, Ospedale Policlinico San Martino, University of Genoa, Italy.
⁵ Plastic and Reconstructive Surgery, Pediatric Surgery Unit, Istituto Giannina Gaslini, Genoa, Italy.
⁶ Neonatal and Pediatric ICU, Critical Care and Perinatal Medicine Department, Istituto Giannina Gaslini, Genoa, Italy.
⁷ Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini, Universitá degli Studi di Genova, Italy.

PMID: 30882382

Abstract

Agammaglobulinemia is a congenital deficit of humoral immunity characterized by a decreased level or complete absence of immunoglobulins and profound reduction of B-lymphocytes associated with an increased risk of life-threatening bacterial infection. We report a case of invasive Pseudomonas aeruginosa severe skin and soft tissue infection treated with vacuum-assisted closure and antibiotics in a toddler with a previously unreported mutation of the Bruton tyrosin kinase gene.

Publication types

Case Reports

MeSH terms

Agammaglobulinaemia Tyrosine Kinase / genetics*
Agammaglobulinemia / genetics*
Genetic Diseases, X-Linked / genetics*
Humans
Infant
Leg Ulcer / therapy
Male
Mutation
Negative-Pressure Wound Therapy
Pseudomonas Infections / microbiology*
Pseudomonas Infections / therapy
Pseudomonas aeruginosa*
Skin Diseases, Bacterial / microbiology*
Skin Diseases, Bacterial / therapy

Substances

Agammaglobulinaemia Tyrosine Kinase
BTK protein, human

Supplementary concepts

Bruton type agammaglobulinemia