| Title |
Immunological aspects of 22q11.2 deletion syndrome
|
|---|---|
| Published in |
Cellular and Molecular Life Sciences, October 2011
|
| DOI | 10.1007/s00018-011-0842-z |
| Pubmed ID | |
| Authors |
A. R. Gennery |
| Abstract |
Chromosome 22q11 deletion is the most common chromosomal deletion syndrome and is found in the majority of patients with DiGeorge syndrome and velo-cardio-facial syndrome. Patients with CHARGE syndrome may share similar features. Cardiac malformations, speech delay, and immunodeficiency are the most common manifestations. The immunological phenotype may vary widely between patients. Severe T lymphocyte immunodeficiency is rare-thymic transplantation offers a new approach to treatment, as well as insights into thymic physiology and central tolerance. Combined partial immunodeficiency is more common, leading to recurrent sinopulmonary infection in early childhood. Autoimmunity is an increasingly recognized complication. New insights into pathophysiology are reviewed. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 25% |
| United States | 1 | 25% |
| Ireland | 1 | 25% |
| Unknown | 1 | 25% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 96 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Japan | 1 | 1% |
| Czechia | 1 | 1% |
| Unknown | 94 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 17 | 18% |
| Researcher | 14 | 15% |
| Student > Ph. D. Student | 12 | 13% |
| Student > Bachelor | 12 | 13% |
| Other | 9 | 9% |
| Other | 21 | 22% |
| Unknown | 11 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 46 | 48% |
| Biochemistry, Genetics and Molecular Biology | 10 | 10% |
| Agricultural and Biological Sciences | 9 | 9% |
| Immunology and Microbiology | 7 | 7% |
| Linguistics | 3 | 3% |
| Other | 5 | 5% |
| Unknown | 16 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 November 2015.
All research outputs
#13,687,586
of 23,794,258 outputs
Outputs from Cellular and Molecular Life Sciences
#2,657
of 4,151 outputs
Outputs of similar age
#86,322
of 138,399 outputs
Outputs of similar age from Cellular and Molecular Life Sciences
#30
of 40 outputs
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