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Invasive meningococcal disease in three siblings with hereditary deficiency of the 8th component of complement: evidence for the importance of an early diagnosis

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2016
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Title
Invasive meningococcal disease in three siblings with hereditary deficiency of the 8th component of complement: evidence for the importance of an early diagnosis
Published in
Orphanet Journal of Rare Diseases, January 2016
DOI 10.1186/s13023-016-0448-5
Pubmed ID
Authors

Rosa Maria Dellepiane, Laura Dell’Era, Paola Pavesi, Paolo Macor, Mara Giordano, Luca De Maso, Maria Cristina Pietrogrande, Massimo Cugno

Abstract

Deficiency of the eighth component of complement (C8) is a very rare primary immunodeficiency, associated with invasive, recurrent infections mainly caused by Neisseria species. We report functional and immunochemical C8 deficiency diagnosed in three Albanian siblings who presented with severe meningococcal infections at the age of 15 years, 4 years and 17 months, respectively. The youngest suffered serious complications (necrosis of fingers and toes requiring amputation). Functional activity of the classical, alternative and mannose-binding lectin complement pathways was measured in serum from the 3 siblings and their parents (37-year-old woman and 42-year-old man). Forty healthy subjects (20 males and 20 females aged 4-38 years) served as normal controls. Serum complement factors were measured by haemolytic assays and immunoblotting. Sequence DNA analysis of the C8B gene was performed. Analyses of the three complement pathways revealed no haemolytic activity and also absence of C8beta in serum samples from all three siblings. The genetic analysis showed that the three siblings were homozygous for the p.Arg428* mutation in the C8B gene on chromosome 1p32 (MIM 120960). The parents were heterozygous for the mutation and presented normal complement activities. A 2-year follow-up revealed no further infective episodes in the siblings after antibiotic prophylaxis and meningococcal vaccination. Complement deficiencies are rare and their occurrence is often underestimated. In presence of invasive meningococcal infection, we highlight the importance of complement screening in patients and their relatives in order to discover any genetic defects which would render necessary prophylaxis to prevent recurrent infections and severe complications.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 31 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 6 19%
Student > Master 4 13%
Researcher 4 13%
Student > Ph. D. Student 4 13%
Student > Doctoral Student 3 10%
Other 5 16%
Unknown 5 16%
Readers by discipline Count As %
Medicine and Dentistry 14 45%
Biochemistry, Genetics and Molecular Biology 5 16%
Immunology and Microbiology 4 13%
Pharmacology, Toxicology and Pharmaceutical Science 1 3%
Engineering 1 3%
Other 0 0%
Unknown 6 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 21 May 2016.
All research outputs
#4,004,549
of 7,724,913 outputs
Outputs from Orphanet Journal of Rare Diseases
#732
of 1,083 outputs
Outputs of similar age
#146,244
of 269,279 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#49
of 58 outputs
Altmetric has tracked 7,724,913 research outputs across all sources so far. This one is in the 28th percentile – i.e., 28% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,083 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 25th percentile – i.e., 25% of its peers scored the same or lower than it.
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We're also able to compare this research output to 58 others from the same source and published within six weeks on either side of this one. This one is in the 5th percentile – i.e., 5% of its contemporaries scored the same or lower than it.