Abstract
The presence of the G allele of exon-1 +49 A/G polymorphisms of the cytotoxic T lymphocyte antigen 4 (CTLA-4) gene has been described as a risk factor associated with the development of autoimmune diseases. Since Common Variable Immune Deficiency (CVID) is associated with autoimmune manifestations in approximately 25% of patients, we sought to examine the association of the CTLA-4 single nucleotide polymorphism with autoimmunity and other inflammatory complications. Sixteen of 47 CVID (34%) patients had a history of autoimmunity, and 15 (32%) had known granulomatous disease with or without lymphoid hyperplasia. CTLA-4 genotype frequencies were AA 40% (19), AG 45% (21), and GG 15% (7). Allele frequencies were A 63% and G 37%, similar to control populations. There were no significant associations between CTLA-4 exon-1 +49 A/G polymorphism and autoimmune or lymphoid hyperplasia and granulomatous disease in this mostly Caucasian CVID patient population.
| Original language | English |
|---|---|
| Pages (from-to) | 95-100 |
| Number of pages | 6 |
| Journal | Journal of Clinical Immunology |
| Volume | 27 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2007 |
Fingerprint
Keywords
- Autoimmunity
- Common variable immune deficiency
- Granuloma
- Lymphoid hyperplasia
ASJC Scopus subject areas
- Immunology
- Immunology and Allergy
Cite this
CTLA-4 gene exon-1 +49 A/G polymorphism : Lack of association with autoimmune disease in patients with common variable immune deficiency. / Knight, Adina Kay; Serrano, Davide; Tomer, Yaron; Cunningham-Rundles, Charlotte.
In: Journal of Clinical Immunology, Vol. 27, No. 1, 01.2007, p. 95-100.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - CTLA-4 gene exon-1 +49 A/G polymorphism
T2 - Lack of association with autoimmune disease in patients with common variable immune deficiency
AU - Knight, Adina Kay
AU - Serrano, Davide
AU - Tomer, Yaron
AU - Cunningham-Rundles, Charlotte
PY - 2007/1
Y1 - 2007/1
N2 - The presence of the G allele of exon-1 +49 A/G polymorphisms of the cytotoxic T lymphocyte antigen 4 (CTLA-4) gene has been described as a risk factor associated with the development of autoimmune diseases. Since Common Variable Immune Deficiency (CVID) is associated with autoimmune manifestations in approximately 25% of patients, we sought to examine the association of the CTLA-4 single nucleotide polymorphism with autoimmunity and other inflammatory complications. Sixteen of 47 CVID (34%) patients had a history of autoimmunity, and 15 (32%) had known granulomatous disease with or without lymphoid hyperplasia. CTLA-4 genotype frequencies were AA 40% (19), AG 45% (21), and GG 15% (7). Allele frequencies were A 63% and G 37%, similar to control populations. There were no significant associations between CTLA-4 exon-1 +49 A/G polymorphism and autoimmune or lymphoid hyperplasia and granulomatous disease in this mostly Caucasian CVID patient population.
AB - The presence of the G allele of exon-1 +49 A/G polymorphisms of the cytotoxic T lymphocyte antigen 4 (CTLA-4) gene has been described as a risk factor associated with the development of autoimmune diseases. Since Common Variable Immune Deficiency (CVID) is associated with autoimmune manifestations in approximately 25% of patients, we sought to examine the association of the CTLA-4 single nucleotide polymorphism with autoimmunity and other inflammatory complications. Sixteen of 47 CVID (34%) patients had a history of autoimmunity, and 15 (32%) had known granulomatous disease with or without lymphoid hyperplasia. CTLA-4 genotype frequencies were AA 40% (19), AG 45% (21), and GG 15% (7). Allele frequencies were A 63% and G 37%, similar to control populations. There were no significant associations between CTLA-4 exon-1 +49 A/G polymorphism and autoimmune or lymphoid hyperplasia and granulomatous disease in this mostly Caucasian CVID patient population.
KW - Autoimmunity
KW - Common variable immune deficiency
KW - Granuloma
KW - Lymphoid hyperplasia
UR - http://www.scopus.com/inward/record.url?scp=33846928540&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33846928540&partnerID=8YFLogxK
U2 - 10.1007/s10875-006-9049-8
DO - 10.1007/s10875-006-9049-8
M3 - Article
C2 - 17192819
AN - SCOPUS:33846928540
VL - 27
SP - 95
EP - 100
JO - Journal of Clinical Immunology
JF - Journal of Clinical Immunology
SN - 0271-9142
IS - 1
ER -