PMID- 10598819
OWN - NLM
STAT- MEDLINE
DCOM- 20000106
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 105
IP  - 5
DP  - 1999 Nov
TI  - SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.
PG  - 501-5
AB  - X-linked lymphoproliferative disease (XLP) is a rare inherited immunodeficiency
      to Epstein-Barr virus (EBV). The gene responsible for XLP has recently been
      identified as the four-exon SH2D1A gene encoding a 128-amino-acid protein that
      contains an SH2-domain. Functional studies indicate the SH2D1A protein acts as a 
      regulator of at least two signal transduction pathways initiated by the cell
      surface molecules SLAM and 2B4, respectively, and possibly related to the host
      immune response to EBV infection. We have carried out a systematic mutation study
      of the SH2D1A gene in our series of 19 typical and 8 atypical XLP patients by
      polymerase chain reaction (PCR), reverse transcription/PCR, and sequencing, and
      have reconstructed the haplotypes of the patients. Four out of the 13 mutations
      detected are previously unreported. The identification of SH2D1A mutations in
      carriers from all three XLP families screened and the detection of mutations in
      two out of eight atypical patients indicates the usefulness of a DNA-based
      diagnosis for XLP disease.
FAU - Yin, L
AU  - Yin L
AD  - International Agency for Research on Cancer, Lyon, France.
FAU - Ferrand, V
AU  - Ferrand V
FAU - Lavoue, M F
AU  - Lavoue MF
FAU - Hayoz, D
AU  - Hayoz D
FAU - Philippe, N
AU  - Philippe N
FAU - Souillet, G
AU  - Souillet G
FAU - Seri, M
AU  - Seri M
FAU - Giacchino, R
AU  - Giacchino R
FAU - Castagnola, E
AU  - Castagnola E
FAU - Hodgson, S
AU  - Hodgson S
FAU - Sylla, B S
AU  - Sylla BS
FAU - Romeo, G
AU  - Romeo G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Carrier Proteins)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (SH2D1A protein, human)
RN  - 0 (Signaling Lymphocytic Activation Molecule Associated Protein)
SB  - IM
MH  - Carrier Proteins/*genetics
MH  - DNA Mutational Analysis
MH  - Dinucleotide Repeats
MH  - Exons
MH  - Female
MH  - *Genetic Linkage
MH  - Haplotypes
MH  - Humans
MH  - *Intracellular Signaling Peptides and Proteins
MH  - Lymphoproliferative Disorders/diagnosis/etiology/*genetics
MH  - Male
MH  - *Mutation
MH  - Pedigree
MH  - RNA, Messenger/genetics/metabolism
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Signal Transduction/genetics
MH  - Signaling Lymphocytic Activation Molecule Associated Protein
MH  - X Chromosome/*genetics
MH  - src Homology Domains/genetics
EDAT- 1999/12/22 00:00
MHDA- 1999/12/22 00:01
CRDT- 1999/12/22 00:00
PHST- 1999/12/22 00:00 [pubmed]
PHST- 1999/12/22 00:01 [medline]
PHST- 1999/12/22 00:00 [entrez]
AID - 10.1007/s004390051137 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Nov;105(5):501-5. doi: 10.1007/s004390051137.