Journal
EUROPEAN JOURNAL OF PEDIATRICS
Volume 161, Issue 12, Pages 656-659Publisher
SPRINGER-VERLAG
DOI: 10.1007/s00431-002-1083-9
Keywords
common variable immunodeficiency; SH2D1A gene; X-linked lymphoproliferative disease
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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. Conclusion: 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.
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