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Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1

Overview of attention for article published in Journal of Clinical Immunology, July 2016
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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 (72nd percentile)
  • High Attention Score compared to outputs of the same age and source (86th percentile)

Mentioned by

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3 tweeters
facebook
1 Facebook page
wikipedia
1 Wikipedia page

Citations

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24 Dimensions

Readers on

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42 Mendeley
Title
Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1
Published in
Journal of Clinical Immunology, July 2016
DOI 10.1007/s10875-016-0312-3
Pubmed ID
Authors

Safa Baris, Fayhan Alroqi, Ayca Kiykim, Elif Karakoc-Aydiner, Ismail Ogulur, Ahmet Ozen, Louis-Marie Charbonnier, Mustafa Bakır, Kaan Boztug, Talal A. Chatila, Isil B. Barlan

Abstract

Loss and gain-of-function (GOF) mutations in human signal transducer and activator of transcription 1 (STAT1) lead to distinct phenotypes. Although recurrent infections are common to both types of STAT1 mutations, GOF mutations are distinguished by chronic mucocutaneous candidiasis and autoimmunity. However, the clinical spectra of STAT1 GOF mutations continue to expand. We here describe two patients with STAT1 GOF mutations presenting early in life with combined immunodeficiency (CID). Clinical data and laboratory findings including immunophenotyping, level of interferon (IFN)-γ/IL-17(+) T cells, interferon-induced STAT1 phosphorylation, and JAK inhibitor assays were evaluated. Sequencing of STAT1 gene was performed by Sanger sequencer. Patient 1 (P1) had persistent oral candidiasis and cytomegalovirus (CMV) infection since 2 months of age and later developed cavitary lung lesions due to Mycobacterium tuberculosis. Patient 2 (P2) presented with oral candidiasis and recurrent pneumonia at 4 months of age and subsequently developed CMV pneumonitis. Both patients suffered heterozygous missense mutations in STAT1, leading to deleterious amino acid substitutions in the DNA binding domain (P1: c.1154C > T; p.T385M; P2. c.971G > T; p.C324F). Circulating CD4(+) T cells of both patients exhibited increased interferon-γ and decreased IL-17 expression as compared to controls. They also exhibited increased IFN-β and -γ-induced STAT1 phosphorylation that was reversed upon treatment with the JAK kinase inhibitor ruxolitinib. STAT1 GOF mutations may present early in life with CID, consistent with the clinical heterogeneity of the disease. JAK kinase inhibitors may potentially be useful in some patients as adjunct therapy pending definitive treatment with bone marrow transplantation.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Denmark 1 2%
Czechia 1 2%
Unknown 40 95%

Demographic breakdown

Readers by professional status Count As %
Unspecified 9 21%
Researcher 7 17%
Student > Master 6 14%
Other 6 14%
Student > Bachelor 4 10%
Other 10 24%
Readers by discipline Count As %
Unspecified 11 26%
Biochemistry, Genetics and Molecular Biology 8 19%
Medicine and Dentistry 8 19%
Immunology and Microbiology 7 17%
Agricultural and Biological Sciences 6 14%
Other 2 5%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 01 June 2017.
All research outputs
#3,033,726
of 12,339,854 outputs
Outputs from Journal of Clinical Immunology
#122
of 875 outputs
Outputs of similar age
#73,413
of 267,766 outputs
Outputs of similar age from Journal of Clinical Immunology
#6
of 36 outputs
Altmetric has tracked 12,339,854 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 875 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.5. This one has done well, scoring higher than 85% 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 267,766 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 72% of its contemporaries.
We're also able to compare this research output to 36 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 86% of its contemporaries.