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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
- Source :
- Clinical Immunology. 110:22-29
- Publication Year :
- 2004
- Publisher :
- Elsevier BV, 2004.
-
Abstract
- 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.
- Subjects :
- Adult
Male
Hemolytic anemia
clinical features
Adolescent
Immunology
Genes, Recessive
Autoimmune hepatitis
Infections
medicine.disease_cause
Lymphoid hyperplasia
Autoimmunity
03 medical and health sciences
0302 clinical medicine
Cytidine Deaminase
Immunopathology
medicine
Activation-induced (cytidine) deaminase
Humans
Immunology and Allergy
Child
030304 developmental biology
0303 health sciences
biology
business.industry
Immunologic Deficiency Syndromes
Infant, Newborn
Infant
hyper IgM
Cytidine deaminase
Middle Aged
medicine.disease
3. Good health
Immunoglobulin M
Child, Preschool
biology.protein
Female
Polyarthritis
Somatic Hypermutation, Immunoglobulin
medicine.symptom
business
030215 immunology
Subjects
Details
- ISSN :
- 15216616
- Volume :
- 110
- Database :
- OpenAIRE
- Journal :
- Clinical Immunology
- Accession number :
- edsair.doi.dedup.....9c5f7d621103ea7d9c0f236df4dcff9e
- Full Text :
- https://doi.org/10.1016/j.clim.2003.10.007