PMID- 16386652
OWN - NLM
STAT- MEDLINE
DCOM- 20060922
LR  - 20111117
IS  - 0198-8859 (Print)
IS  - 0198-8859 (Linking)
VI  - 66
IP  - 10
DP  - 2005 Oct
TI  - Frequency in Spanish population of familial complement factor 2 type I deficits 
      and associated HLA haplotypes.
PG  - 1093-8
AB  - We present two familial cases of complement factor 2 (C2) type I deficiency. 
      Probands had experienced severe pyogenic bacteria infections in childhood and had 
      undetectable levels of C2 and very low level of CH50. Both children were 
      homozygous for the deletion of 28 bp in exon 6 of the C2 gene. Human leukocyte 
      antigen (HLA) typing in family 1 had the commonly reported associations, but 
      family 2 demonstrated a new association of the mutated C2 gene to HLA-A*3101, 
      -Cw*0602, -B*1801, and -DRB1*0901. In addition, for the first time, the frequency 
      of the 28-bp deletion of C2 and its HLA haplotypic associations have been 
      analyzed in a sample of the Spanish population containing 790 haplotypes and 105 
      phenotypes. Cw*0602 is frequently found in Spanish haplotypes linked to the C2 
      mutated gene instead of the commonly reported -Cw*1203. The presence of 
      heterozygous or homozygous individuals for the C2 deletion with low levels of IgD 
      in both families supports the existence of a putative dominant susceptibility 
      gene for IgD deficiency in haplotype HLA-B18, -S042, and -DR2. The frequency of 
      the C2 28-bp deletion in heterozygosis is 1.4% (gene frequency 0.007) in Spanish 
      healthy controls, similar to that reported in other white populations.
FAU - Antolin, S Calleja
AU  - Antolin SC
AD  - Servicio de Inmunologia, Hospital Universitario Doce de Octubre, Madrid, Spain. 
      scalleja.hdoc@salud.madrid.org
FAU - Del Rey Cerros, M J
AU  - Del Rey Cerros MJ
FAU - Sierra, E Mancebo
AU  - Sierra EM
FAU - Minarro, D Oliver
AU  - Minarro DO
FAU - Clemente, J
AU  - Clemente J
FAU - Martinez, L Allende
AU  - Martinez LA
FAU - Pena, P Varela
AU  - Pena PV
FAU - Panete, M J Castro
AU  - Panete MJ
FAU - Perez, P Morales
AU  - Perez PM
FAU - Paz-Artal, E
AU  - Paz-Artal E
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20050825
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
RN  - 0 (Complement C2)
RN  - 0 (HLA Antigens)
RN  - 0 (HLA-A Antigens)
RN  - 0 (HLA-A*31:01 antigen)
RN  - 0 (HLA-B Antigens)
RN  - 0 (HLA-C Antigens)
RN  - 0 (HLA-C*06:02 antigen)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (HLA-DRB1*09:01 antigen)
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Complement C2/deficiency/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Genotype
MH  - HLA Antigens/*genetics
MH  - HLA-A Antigens/genetics
MH  - HLA-B Antigens/genetics
MH  - HLA-C Antigens/genetics
MH  - HLA-DR Antigens
MH  - HLA-DRB1 Chains
MH  - Haplotypes
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Pedigree
MH  - Phenotype
MH  - Spain
EDAT- 2006/01/03 09:00
MHDA- 2006/09/23 09:00
CRDT- 2006/01/03 09:00
PHST- 2005/04/19 00:00 [received]
PHST- 2005/07/22 00:00 [revised]
PHST- 2005/07/26 00:00 [accepted]
PHST- 2006/01/03 09:00 [pubmed]
PHST- 2006/09/23 09:00 [medline]
PHST- 2006/01/03 09:00 [entrez]
AID - S0198-8859(05)00142-4 [pii]
AID - 10.1016/j.humimm.2005.07.008 [doi]
PST - ppublish
SO  - Hum Immunol. 2005 Oct;66(10):1093-8. doi: 10.1016/j.humimm.2005.07.008. Epub 2005 
      Aug 25.