Document Detail


Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency.
MedLine Citation:
PMID:  12447665     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Annarosa Soresina; Vassilis Lougaris; Silvia Giliani; Fabio Cardinale; Lucio Armenio; Marco Cattalini; Luigi D Notarangelo; Alessandro Plebani
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2002-10-23
Journal Detail:
Title:  European journal of pediatrics     Volume:  161     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2002 Dec 
Date Detail:
Created Date:  2002-11-26     Completed Date:  2003-04-15     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  656-9     Citation Subset:  IM    
Affiliation:
Istituto di Medicina Molecolare Angelo Nocivelli Clinica Pediatrica, Università di Brescia, Spedali Civili, 25123 Brescia, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adult
Carrier Proteins / genetics*
Child
Common Variable Immunodeficiency / diagnosis*,  genetics*
Humans
Intracellular Signaling Peptides and Proteins*
Lymphoproliferative Disorders / diagnosis*,  genetics*
Male
Pedigree
Prognosis
Chemical
Reg. No./Substance:
0/Carrier Proteins; 0/Intracellular Signaling Peptides and Proteins; 0/SH2D1A protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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