Clinical, immunologic and genetic analysis of 29 patients with
autosomal recessive hyper-IgM syndrome due to
Activation-Induced Cytidine Deaminase deficiency.

J 2004

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.

QUARTIER, Pierre, Jacinta BUSTAMANTE, Ozden SANAL, Alessandro PLEBANI, Marianne DEBRE et. al.

Basic information

Original name

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.

Name in Czech

Klinická, imunologická a genetická analýza 29 pacientů s autosomálně recesivním hyper IgM syndromem a deficitem AID

Authors

QUARTIER, Pierre (250 France), Jacinta BUSTAMANTE (250 France), Ozden SANAL (792 Turkey), Alessandro PLEBANI (380 Italy), Marianne DEBRE (250 France), Anne DEVILLE (250 France), Jiří LITZMAN (203 Czech Republic, guarantor), Jean-Paul FERMAND (250 France), Peter LANE (826 United Kingdom of Great Britain and Northern Ireland), Gerd HORNEFF (276 Germany), Guzide AKSU (276 Germany), Isik YALCIN (792 Turkey), Graham DAVIES (826 United Kingdom of Great Britain and Northern Ireland), Ilhan TEZCAN (792 Turkey), Furgen ERSOY (792 Turkey), Nadia CATALAN (250 France), Kohsuhe IMAI (250 France), Alain FISCHER (250 France), Anne DURANDY (250 France) and Jakov LEVY (376 Israel)

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

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 3.034

RIV identification code

RIV/00216224:14110/04:00030934

Organization unit

Faculty of Medicine

UT WoS

000189085400004

Keywords in English

AID; immune deficiency; child; autoimmunity; intravenous immunoglobulin

Abstract

ORIG CZ

V originále

Mutations of the Activation-Induced Cytidine Deaminase (AID) gene have been found in patients with autosomal recessive hyper-IgM (HIGM) syndrome type 2. We retrospectively analyzed clinical, immunologic and genetic characteristics of 29 patients from 22 families with AID deficiency. Patients' median age at diagnosis and at last evaluation was 4.9 years (range: 0 to 53) and 14.2 years (range: 2.7 to 63), respectively. Most patients had suffered from recurrent and severe infections, however, intravenous immunoglobulin (IVIG) replacement therapy resulted in a dramatic decrease in the number of infections. Lymphoid hyperplasia developed in 22 patients and persisted in 7 at last follow-up. It is striking to note that six patients developed autoimmune or inflammatory disorders including diabetes mellitus, polyarthritis, autoimmune hepatitis, hemolytic anemia, immune thrombocytopenia, Crohn's disease and chronic uveitis. Fifteen distinct AID mutations were found but there was no significant genotype-phenotype correlation. In conclusion, AID-deficient patients are prone to infections and lymphoid hyperplasia, which may be prevented by early-onset IVIG replacement, but also to autoimmune and inflammatory disorders.

In Czech

Klinická, imunologická a genetická analýza 29 pacientů s autosomálně recesivním hyper IgM syndromem a deficitem AID.

Citovat

QUARTIER, Pierre, Jacinta BUSTAMANTE, Ozden SANAL, Alessandro PLEBANI, Marianne DEBRE, Anne DEVILLE, Jiří LITZMAN, Jean-Paul FERMAND, Peter LANE, Gerd HORNEFF, Guzide AKSU, Isik YALCIN, Graham DAVIES, Ilhan TEZCAN, Furgen ERSOY, Nadia CATALAN, Kohsuhe IMAI, Alain FISCHER, Anne DURANDY and Jakov LEVY. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clin Immunol. 2004, vol. 110, No 3, p. 22-29. ISSN 1521-6616.

@article{569208,
   author = {Quartier, Pierre and Bustamante, Jacinta and Sanal, Ozden and Plebani, Alessandro and Debre, Marianne and Deville, Anne and Litzman, Jiří and Fermand, JeanandPaul and Lane, Peter and Horneff, Gerd and Aksu, Guzide and Yalcin, Isik and Davies, Graham and Tezcan, Ilhan and Ersoy, Furgen and Catalan, Nadia and Imai, Kohsuhe and Fischer, Alain and Durandy, Anne and Levy, Jakov},
   article_number = {3},
   keywords = {AID; immune deficiency; child; autoimmunity; intravenous immunoglobulin},
   language = {eng},
   issn = {1521-6616},
   journal = {Clin Immunol},
   title = {Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.},
   volume = {110},
   year = {2004}
}

TY  - JOUR
ID  - 569208
AU  - Quartier, Pierre - Bustamante, Jacinta - Sanal, Ozden - Plebani, Alessandro - Debre, Marianne - Deville, Anne - Litzman, Jiří - Fermand, Jean-Paul - Lane, Peter - Horneff, Gerd - Aksu, Guzide - Yalcin, Isik - Davies, Graham - Tezcan, Ilhan - Ersoy, Furgen - Catalan, Nadia - Imai, Kohsuhe - Fischer, Alain - Durandy, Anne - Levy, Jakov
PY  - 2004
TI  - Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.
JF  - Clin Immunol
VL  - 110
IS  - 3
SP  - 22-29
EP  - 22-29
SN  - 15216616
KW  - AID
KW  - immune deficiency
KW  - child
KW  - autoimmunity
KW  - intravenous immunoglobulin
N2  - Mutations of the Activation-Induced Cytidine Deaminase (AID) gene have been found in patients with autosomal recessive hyper-IgM (HIGM) syndrome type 2. We retrospectively analyzed clinical, immunologic and genetic characteristics of 29 patients from 22 families with AID deficiency. Patients' median age at diagnosis and at last evaluation was 4.9 years (range: 0 to 53) and 14.2 years (range: 2.7 to 63), respectively. Most patients had suffered from recurrent and severe infections, however, intravenous immunoglobulin (IVIG) replacement therapy resulted in a dramatic decrease in the number of infections. Lymphoid hyperplasia developed in 22 patients and persisted in 7 at last follow-up. It is striking to note that six patients developed autoimmune or inflammatory disorders including diabetes mellitus, polyarthritis, autoimmune hepatitis, hemolytic anemia, immune thrombocytopenia, Crohn's disease and chronic uveitis. Fifteen distinct AID mutations were found but there was no significant genotype-phenotype correlation. In conclusion, AID-deficient patients are prone to infections and lymphoid hyperplasia, which may be prevented by early-onset IVIG replacement, but also to autoimmune and inflammatory disorders.
ER  -

QUARTIER, Pierre, Jacinta BUSTAMANTE, Ozden SANAL, Alessandro PLEBANI, Marianne DEBRE, Anne DEVILLE, Jiří LITZMAN, Jean-Paul FERMAND, Peter LANE, Gerd HORNEFF, Guzide AKSU, Isik YALCIN, Graham DAVIES, Ilhan TEZCAN, Furgen ERSOY, Nadia CATALAN, Kohsuhe IMAI, Alain FISCHER, Anne DURANDY and Jakov LEVY. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. \textit{Clin Immunol}. 2004, vol.~110, No~3, p.~22-29. ISSN~1521-6616.

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