Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation.
This study describes the third case worldwide of autosomal recessive agammaglobulinemia due to a novel non-sense mutation in Igβ presenting with neutropenia, ecthyma and mild respiratory infections.
Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine "A. Nocivelli", University of Brescia, Spedali Civili di Brescia, Brescia, Italy, vlougaris@yahoo.co.uk.
Vassilios
V
Lougaris
Massimiliano
M
Vitali
Manuela
M
Baronio
Daniele
D
Moratto
Giacomo
G
Tampella
Augusto
A
Biasini
Raffaele
R
Badolato
Alessandro
A
Plebani
D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D001483:Base Sequence; D018389:Codon, Nonsense; D003241:Consanguinity; D004473:Ecthyma / Q000276:immunology / Q000473:pathology; D005260:Female; D006720:Homozygote; D006801:Humans; D007136:Immunoglobulins / Q000172:deficiency / Q000235:genetics* / Q000276:immunology; D007223:Infant; D008969:Molecular Sequence Data; D009503:Neutropenia / Q000276:immunology / Q000473:pathology; D010375:Pedigree; D012141:Respiratory Tract Infections / Q000276:immunology / Q000473:pathology
D018389:Codon, Nonsense; D007136:Immunoglobulins; C038767:immunoglobulin B