title: Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency.
abstract: Common variable immunodeficiency (CVID) and X-linked lymphoproliferative (XLP) disease are two immunodeficiencies that may share a similar immunological phenotype making differential diagnosis difficult. We report two patients initially diagnosed as affected with CVID who, using molecular analysis, have been subsequently found to be affected with XLP disease. Distinguishing between these two diseases is essential since they have different prognosis, treatment and genetic counselling.
  
  
  CONCLUSIONS
  current techniques, such as genetic analysis of the SH2D1A gene and expression of signalling lymphocyte activation molecule-associated protein, allow a definite diagnosis of X-linked lymphoproliferative disease.
authors.affiliation: Istituto di Medicina Molecolare Angelo Nocivelli Clinica Pediatrica, Università di Brescia, Spedali Civili, 25123 Brescia, Italy.
authors.forename: Annarosa
authors.initials: A
authors.lastname: Soresina
authors.forename: Vassilis
authors.initials: V
authors.lastname: Lougaris
authors.forename: Silvia
authors.initials: S
authors.lastname: Giliani
authors.forename: Fabio
authors.initials: F
authors.lastname: Cardinale
authors.forename: Lucio
authors.initials: L
authors.lastname: Armenio
authors.forename: Marco
authors.initials: M
authors.lastname: Cattalini
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D017074:Common Variable Immunodeficiency / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008232:Lymphoproliferative Disorders / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011379:Prognosis; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein