| SALZER, Ulrich, Andrea MAUL-PAVICIC, Charlotte CUNNINGHMA-RUNDLES, Simon URSCHEL, Berd BELOHRADSKY, Jiří LITZMAN, Are HOLM, José Luis FRANCO, Alessandro PLEBANI, Lennart HAMMARSTROM, Andrea SKRABL, Wolfgang SCHWINGER and Bodo GRIMBACHER. ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol. 2004, vol. 113, No 3, p. 234-240, 8 pp. ISSN 1521-6616. |
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@article{569207,
author = {Salzer, Ulrich and MaulandPavicic, Andrea and CunninghmaandRundles, Charlotte and Urschel, Simon and Belohradsky, Berd and Litzman, Jiří and Holm, Are and Franco, José Luis and Plebani, Alessandro and Hammarstrom, Lennart and Skrabl, Andrea and Schwinger, Wolfgang and Grimbacher, Bodo},
article_number = {3},
keywords = {CVID; ICOS; Immunodeficiency},
language = {eng},
issn = {1521-6616},
journal = {Clin Immunol},
title = {ICOS deficiency in patients with common variable immunodeficiency},
volume = {113},
year = {2004}
}
TY - JOUR
ID - 569207
AU - Salzer, Ulrich - Maul-Pavicic, Andrea - Cunninghma-Rundles, Charlotte - Urschel, Simon - Belohradsky, Berd - Litzman, Jiří - Holm, Are - Franco, José Luis - Plebani, Alessandro - Hammarstrom, Lennart - Skrabl, Andrea - Schwinger, Wolfgang - Grimbacher, Bodo
PY - 2004
TI - ICOS deficiency in patients with common variable immunodeficiency
JF - Clin Immunol
VL - 113
IS - 3
SP - 234-240
EP - 234-240
SN - 15216616
KW - CVID
KW - ICOS
KW - Immunodeficiency
N2 - Common variable immunodeficiency (CVID) is the most frequent clinically significant primary antibody deficiency in man, predisposing to recurrent bacterial infections. Recently, we showed that the homozygous loss of the inducible costimulator (ICOS) on activated T cells may result in an adult onset form of CVID with autosomal recessive inheritance (AR-CVID). We screened 181 sporadic CVID patients and 13 CVID patients from nine families with AR-CVID for mutations in ICOS by genomic DNA sequencing. In the AR-CVID families, the genomic integrity of the ligand for ICOS (ICOS-L) was also evaluated. In two of the nine AR-CVID families, we identified five individuals with ICOS deficiency, carrying the identical large genomic deletion of ICOS as previously described. In the remaining seven AR-CVID families, we subsequently sequenced the coding region of the ICOS ligand but found no mutations. The incidence of ICOS deficiency among patients with CVID is less than 5%. Worldwide, there are now a total of nine patients diagnosed with ICOS deficiency most likely due to a common founder. ICOS-L deficiency could not be identified in families with AR-CVID
ER -
SALZER, Ulrich, Andrea MAUL-PAVICIC, Charlotte CUNNINGHMA-RUNDLES, Simon URSCHEL, Berd BELOHRADSKY, Jiří LITZMAN, Are HOLM, José Luis FRANCO, Alessandro PLEBANI, Lennart HAMMARSTROM, Andrea SKRABL, Wolfgang SCHWINGER and Bodo GRIMBACHER. ICOS deficiency in patients with common variable immunodeficiency. \textit{Clin Immunol}. 2004, vol.~113, No~3, p.~234-240, 8 pp. ISSN~1521-6616.
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