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

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

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' m...

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Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 110(2004), 1 vom: 01. Jan., Seite 22-9
1. Verfasser: Quartier, Pierre (VerfasserIn)
Weitere Verfasser: Bustamante, Jacinta, Sanal, Ozden, Plebani, Alessandro, Debré, Marianne, Deville, Anne, Litzman, Jiri, Levy, Jacov, Fermand, Jean-Paul, Lane, Peter, Horneff, Gerd, Aksu, Guzide, Yalçin, Isik, Davies, Graham, Tezcan, Ilhan, Ersoy, Furgen, Catalan, Nadia, Imai, Kohsuhe, Fischer, Alain, Durandy, Anne
Format: Aufsatz
Sprache:English
Veröffentlicht: 2004
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, Non-U.S. Gov't Immunoglobulin M AICDA (Activation-Induced Cytidine Deaminase) EC 3.5.4.- Cytidine Deaminase EC 3.5.4.5
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245 1 0 |a Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency 
264 1 |c 2004 
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500 |a Date Completed 17.03.2004 
500 |a Date Revised 03.01.2025 
500 |a published: Print 
500 |a ErratumIn: Clin Immunol. 2004 Nov;113(2):220 
500 |a Citation Status MEDLINE 
520 |a 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 
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650 4 |a Research Support, Non-U.S. Gov't 
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700 1 |a Bustamante, Jacinta  |e verfasserin  |4 aut 
700 1 |a Sanal, Ozden  |e verfasserin  |4 aut 
700 1 |a Plebani, Alessandro  |e verfasserin  |4 aut 
700 1 |a Debré, Marianne  |e verfasserin  |4 aut 
700 1 |a Deville, Anne  |e verfasserin  |4 aut 
700 1 |a Litzman, Jiri  |e verfasserin  |4 aut 
700 1 |a Levy, Jacov  |e verfasserin  |4 aut 
700 1 |a Fermand, Jean-Paul  |e verfasserin  |4 aut 
700 1 |a Lane, Peter  |e verfasserin  |4 aut 
700 1 |a Horneff, Gerd  |e verfasserin  |4 aut 
700 1 |a Aksu, Guzide  |e verfasserin  |4 aut 
700 1 |a Yalçin, Isik  |e verfasserin  |4 aut 
700 1 |a Davies, Graham  |e verfasserin  |4 aut 
700 1 |a Tezcan, Ilhan  |e verfasserin  |4 aut 
700 1 |a Ersoy, Furgen  |e verfasserin  |4 aut 
700 1 |a Catalan, Nadia  |e verfasserin  |4 aut 
700 1 |a Imai, Kohsuhe  |e verfasserin  |4 aut 
700 1 |a Fischer, Alain  |e verfasserin  |4 aut 
700 1 |a Durandy, Anne  |e verfasserin  |4 aut 
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