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Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

Overview of attention for article published in Orphanet Journal of Rare Diseases, October 2013
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (76th percentile)
  • Good Attention Score compared to outputs of the same age and source (78th percentile)

Mentioned by

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3 tweeters
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1 Facebook page
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1 Wikipedia page
googleplus
1 Google+ user

Citations

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66 Dimensions

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68 Mendeley
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Title
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
Published in
Orphanet Journal of Rare Diseases, October 2013
DOI 10.1186/1750-1172-8-168
Pubmed ID
Authors

Laura Dotta, Silvia Parolini, Alberto Prandini, Giovanna Tabellini, Maddalena Antolini, Stephen F Kingsmore, Raffaele Badolato

Abstract

Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the biogenesis, function and trafficking of secretory lysosomes. In certain specialized cells, these organelles serve as a storage compartment. Impaired secretion of specific effector proteins from that intracellular compartment affects biological activities. In particular, these intracellular granules are essential constituents of melanocytes, platelets, granulocytes, cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Thus, abnormalities affect pigmentation, primary hemostasis, blood cell counts and lymphocyte cytotoxic activity against microbial pathogens. Among eight genetically distinct types of HPS, only type 2 is characterized by immunodeficiency. Recently, a new subtype, HPS9, was defined in patients presenting with immunodeficiency and oculocutaneous albinism, associated with mutations in the pallidin-encoding gene, PLDN.Hypopigmentation together with recurrent childhood bacterial or viral infections suggests syndromic albinism. T and NK cell cytotoxicity are generally impaired in patients with these disorders. Specific clinical and biochemical phenotypes can allow differential diagnoses among these disorders before molecular testing. Ocular symptoms, including nystagmus, that are usually evident at birth, are common in patients with HPS2 or CHS. Albinism with short stature is unique to MAPBP-interacting protein (MAPBPIP) deficiency, while hemophagocytic lymphohistiocytosis (HLH) mainly suggests a diagnosis of CHS or GS type 2 (GS2). Neurological disease is a long-term complication of CHS, but is uncommon in other syndromic albinism. Chronic neutropenia is a feature of HPS2 and MAPBPIP-deficiency syndrome, whereas it is usually transient in CHS and GS2. In every patient, an accurate diagnosis is required for prompt and appropriate treatment, particularly in patients who develop HLH or in whom bone marrow transplant is required. This review describes the molecular and pathogenetic mechanisms of these diseases, focusing on clinical and biochemical aspects that allow early differential diagnosis.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 68 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 1%
Unknown 67 99%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 13 19%
Researcher 11 16%
Student > Bachelor 9 13%
Student > Master 8 12%
Other 4 6%
Other 15 22%
Unknown 8 12%
Readers by discipline Count As %
Medicine and Dentistry 30 44%
Biochemistry, Genetics and Molecular Biology 8 12%
Agricultural and Biological Sciences 8 12%
Veterinary Science and Veterinary Medicine 3 4%
Immunology and Microbiology 3 4%
Other 5 7%
Unknown 11 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 11 March 2022.
All research outputs
#5,306,400
of 21,970,676 outputs
Outputs from Orphanet Journal of Rare Diseases
#631
of 2,500 outputs
Outputs of similar age
#48,756
of 208,644 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#23
of 112 outputs
Altmetric has tracked 21,970,676 research outputs across all sources so far. Compared to these this one has done well and is in the 75th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,500 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one has gotten more attention than average, scoring higher than 74% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 208,644 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 76% of its contemporaries.
We're also able to compare this research output to 112 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.