title: [Combined immunodeficiency with cutaneous manifestations associated with DOCK8 mutation].
abstract: Different primary immunodeficiencies present increased levels of IgE and cutaneous infections of viral etiology. We report a case of a 2 y, 8 m old boy with combined immunodeficiency, dermatitis and disseminated molluscum contagiosum. The patient presented high titers of IgE, eosinophilia and pronounced TCD8 lymphopenia. Impaired proliferation assays and abnormal antibody response to vaccination were found. Normal results of ZAP-70 protein, NK function, and HLA I levels, to test quantitatives and functional defects of cytotoxic cells, lead us to suspect a mutation in DOCK8 gene. Positive result in molecular study together with clinical and immunology features in the patient confirmed the diagnosis of this new immunodeficiency, being to the authors' knowledge the first case recorded in a paediatric hospital in our country.
authors: Division de Inmunología, Hospital General de Niños Pedro de Elizalde, Buenos Aires, Argentina.
authors: Claudio
authors: C
authors: Cantisano
authors: Division de Inmunología, Hospital General de Niños Pedro de Elizalde, Buenos Aires, Argentina.
authors: Héctor
authors: H
authors: Díaz
authors: Division de Inmunología, Hospital General de Niños Pedro de Elizalde, Buenos Aires, Argentina.
authors: Jeanette
authors: J
authors: Balbaryski
authors: Servicio de Inmunología, Hospital Nacional de Pediatría Dr. Juan P. Garrahan, Buenos Aires, Argentina.
authors: Matías
authors: M
authors: Oleastro
authors: Division de Inmunología, Hospital General de Niños Pedro de Elizalde, Buenos Aires, Argentina.
authors: Héctor
authors: H
authors: Quiroz
authors: Division de Inmunología, Hospital General de Niños Pedro de Elizalde, Buenos Aires, Argentina.
authors: Eduardo
authors: E
authors: Gaddi
mesh_terms: D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D012871:Skin Diseases / Q000209:etiology* / Q000235:genetics*
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors