TY - JOUR
T1 - GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes
AU - Haq, Iram J.
AU - Steinberg, Laura J.
AU - Hoenig, Manfred
AU - van der Burg, Mirjam
AU - Villa, Anna
AU - Cant, Andrew J.
AU - Middleton, Peter G.
AU - Gennery, Andrew R.
PY - 2007/8
Y1 - 2007/8
N2 - Recombinase activating genes 1/2 (RAG1/2) deficiency, critical to initiate gene rearrangement encoding lymphocyte receptors, causes T-B- severe combined immunodeficiency (SCID) and Omenn syndrome (OS), characterised by erythroderma, hepatosplenomegaly, lymphadenopathy, activated, clonal T cell expansions with restricted TCRVβ family usage, and opportunistic infection. Many features of OS resemble graft-versus-host disease (GvHD). Frequency of GvHD-associated cytokine gene polymorphisms (CGPs) with OS was investigated to explain phenotypic differences between T-B- SCID and OS. Allele frequencies of IFNγ T874A, IFNγ-R1, TNFαd microsatellites, IL-10 promoter region C592A and A1082G, IL-4 C-590T, IL-6 G-174C, IL-4R Q+576R, IFNγ-R1 T-56C, TNFαRII 196 M/R single-nucleotide polymorphisms and IL-1Ra intron 1 VNTR were examined in 33 OS and 23 SCID patients. No significant differences in allele frequencies were found between the groups, and no trends identified. The mechanisms determining the OS or T-B-NK+ SCID phenotype remain to be determined.
AB - Recombinase activating genes 1/2 (RAG1/2) deficiency, critical to initiate gene rearrangement encoding lymphocyte receptors, causes T-B- severe combined immunodeficiency (SCID) and Omenn syndrome (OS), characterised by erythroderma, hepatosplenomegaly, lymphadenopathy, activated, clonal T cell expansions with restricted TCRVβ family usage, and opportunistic infection. Many features of OS resemble graft-versus-host disease (GvHD). Frequency of GvHD-associated cytokine gene polymorphisms (CGPs) with OS was investigated to explain phenotypic differences between T-B- SCID and OS. Allele frequencies of IFNγ T874A, IFNγ-R1, TNFαd microsatellites, IL-10 promoter region C592A and A1082G, IL-4 C-590T, IL-6 G-174C, IL-4R Q+576R, IFNγ-R1 T-56C, TNFαRII 196 M/R single-nucleotide polymorphisms and IL-1Ra intron 1 VNTR were examined in 33 OS and 23 SCID patients. No significant differences in allele frequencies were found between the groups, and no trends identified. The mechanisms determining the OS or T-B-NK+ SCID phenotype remain to be determined.
KW - GvHD-associated cytokine gene polymorphisms
KW - Omenn syndrome
KW - RAG-deficient severe combined immunodeficiency
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U2 - 10.1016/j.clim.2007.04.013
DO - 10.1016/j.clim.2007.04.013
M3 - Article
C2 - 17572155
AN - SCOPUS:34447333899
VL - 124
SP - 165
EP - 169
JO - Clinical Immunology
JF - Clinical Immunology
SN - 1521-6616
IS - 2
ER -