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.

Základní údaje

Originální název

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

Název česky

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

Autoři

Vydání

Clin Immunol, 2004, 1521-6616

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 3.034

Kód RIV

RIV/00216224:14110/04:00030934

Organizační jednotka

Lékařská fakulta

UT WoS

000189085400004

Klíčová slova anglicky

AID; immune deficiency; child; autoimmunity; intravenous immunoglobulin

Štítky

aid, autoimmunity, child, immune deficiency, intravenous immunoglobulin

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 2. 4. 2010 08:12, prof. MUDr. Jiří Litzman, CSc.

Anotace

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.

Česky

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 a 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, roč. 110, č. 3, s. 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 a 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, roč.~110, č.~3, s.~22-29. ISSN~1521-6616.

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