ICOS deficiency in patients with common variable
immunodeficiency

J 2004

ICOS deficiency in patients with common variable immunodeficiency

SALZER, Ulrich, Andrea MAUL-PAVICIC, Charlotte CUNNINGHMA-RUNDLES, Simon URSCHEL, Berd BELOHRADSKY et. al.

Basic information

Original name

ICOS deficiency in patients with common variable immunodeficiency

Name in Czech

Deficit ICOS u pacientů s běžným variabilním imunodeficitem

Authors

SALZER, Ulrich (276 Germany), Andrea MAUL-PAVICIC (276 Germany), Charlotte CUNNINGHMA-RUNDLES (840 United States of America), Simon URSCHEL (276 Germany), Berd BELOHRADSKY (276 Germany), Jiří LITZMAN (203 Czech Republic, guarantor), Are HOLM (276 Germany), José Luis FRANCO (170 Colombia), Alessandro PLEBANI (380 Italy), Lennart HAMMARSTROM (752 Sweden), Andrea SKRABL (40 Austria), Wolfgang SCHWINGER (276 Germany) and Bodo GRIMBACHER (276 Germany)

Edition

Clin Immunol, 2004, 1521-6616

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30102 Immunology

Country of publisher

Sweden

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 3.034

RIV identification code

RIV/00216224:14110/04:00030933

Organization unit

Faculty of Medicine

UT WoS

000224975700004

Keywords in English

CVID; ICOS; Immunodeficiency

Abstract

ORIG CZ

V originále

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

In Czech

Výskyt mutace genu ICOS u pacientů s běžným variabilním imunodeficitem.

Citovat

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.

@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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