Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency.
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.
Soresina
Annarosa
A
Istituto di Medicina Molecolare Angelo Nocivelli Clinica Pediatrica, Università di Brescia, Spedali Civili, 25123 Brescia, Italy.
Lougaris
Vassilis
V
Giliani
Silvia
S
Cardinale
Fabio
F
Armenio
Lucio
L
Cattalini
Marco
M
Notarangelo
Luigi D
LD
Plebani
Alessandro
A
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
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein