PMID- 19266080
OWN - NLM
STAT- MEDLINE
DCOM- 20090408
LR  - 20211020
IS  - 1740-2530 (Electronic)
IS  - 1740-2522 (Print)
IS  - 1740-2522 (Linking)
VI  - 2008
DP  - 2008
TI  - Molecular analysis of activation-induced cytidine deaminase gene in 
      immunoglobulin-E deficient patients.
PG  - 146715
LID - 10.1155/2008/146715 [doi]
LID - 146715
AB  - Understanding how class switch recombination (CSR) is regulated to produce 
      immunoglobulin E (IgE) has become fundamental because of the dramatic increase in 
      the prevalence of IgE-mediated hypersensitivity reactions. CSR requires the 
      induction of the enzyme AICDA in B cells. Mutations in AICDA have been linked to 
      Hyper-IgM syndrome (HIGM2), which shows absence of switching to IgE as well as to 
      IgG and IgA. Although isolated IgE deficiency is a rare entity, here we show some 
      individuals with normal serum IgM, IgG, and IgA levels that had undetectable 
      total serum IgE levels. We have analyzed the AICDA gene in these individuals to 
      determine if there are mutations in AICDA that could lead to selective IgE 
      deficiency. Conformational sensitive gel electrophoresis (CSGE) and sequencing 
      analysis of AICDA coding sequences demonstrated sequence heterogeneity due to 
      5923A/G and 7888C/T polymorphisms, but did not reveal any novel mutation that 
      might explain the selective IgE deficit.
FAU - Roa, Sergio
AU  - Roa S
AD  - Molecular Medicine Unit, Department of Medicine, University of Salamanca, 37007 
      Salamanca, Spain.
FAU - Isidoro-Garcia, Maria
AU  - Isidoro-Garcia M
FAU - Davila, Ignacio
AU  - Davila I
FAU - Laffond, Elena
AU  - Laffond E
FAU - Lorente, Felix
AU  - Lorente F
FAU - Gonzalez-Sarmiento, Rogelio
AU  - Gonzalez-Sarmiento R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090225
PL  - Egypt
TA  - Clin Dev Immunol
JT  - Clinical & developmental immunology
JID - 101183692
RN  - 37341-29-0 (Immunoglobulin E)
RN  - EC 3.5.4.- (AICDA (activation-induced cytidine deaminase))
RN  - EC 3.5.4.5 (Cytidine Deaminase)
SB  - IM
MH  - Adult
MH  - Base Sequence
MH  - Cytidine Deaminase/*genetics
MH  - Female
MH  - Humans
MH  - Hyper-IgM Immunodeficiency Syndrome/genetics/metabolism
MH  - Immunoglobulin Class Switching/genetics
MH  - Immunoglobulin E/blood/*deficiency
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Mutation
PMC - PMC2647753
EDAT- 2008/01/01 00:00
MHDA- 2009/04/09 09:00
PMCR- 2009/02/25
CRDT- 2009/03/07 09:00
PHST- 2008/09/30 00:00 [received]
PHST- 2008/12/18 00:00 [accepted]
PHST- 2009/03/07 09:00 [entrez]
PHST- 2008/01/01 00:00 [pubmed]
PHST- 2009/04/09 09:00 [medline]
PHST- 2009/02/25 00:00 [pmc-release]
AID - 10.1155/2008/146715 [doi]
PST - ppublish
SO  - Clin Dev Immunol. 2008;2008:146715. doi: 10.1155/2008/146715. Epub 2009 Feb 25.