A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency (Q62659239)

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English	A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency	No description defined

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instance of

scholarly article

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title

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency (English)

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main subject

Alu Elements

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Histoplasma

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Mycobacterium

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Salmonella

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author

Anastasia Bondarenko

object named as

Anastasia Bondarenko

series ordinal

17

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Yuriy Stepanovskiy

object named as

Yuriy Stepanovskiy

series ordinal

13

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Maria Teresa Herrera

object named as

María T Herrera

series ordinal

27

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Anne Puel

object named as

Anne Puel

series ordinal

32

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Jacinta Bustamante

object named as

Jacinta Bustamante

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39

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Fabienne Jabot-Hanin

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28

object named as

Fabienne Jabot-Hanin

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Jean-Laurent Casanova

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38

object named as

Jean-Laurent Casanova

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Nathalie Lambert

series ordinal

22

object named as

Nathalie Lambert

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Emilie Corvilain

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24

object named as

Emilie Corvilain

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Virginie Grandin

series ordinal

26

object named as

Virginie Grandin

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Mélanie Migaud

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25

object named as

Mélanie Migaud

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Capucine Picard

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30

object named as

Capucine Picard

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Alejandro Nieto-Patlán

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20

object named as

Alejandro Nieto-Patlán

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Sigifredo Pedraza-Sánchez

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16

object named as

Sigifredo Pedraza-Sánchez

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Davood Mansouri

series ordinal

15

object named as

Davood Mansouri

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Caroline Deswarte

series ordinal

3

object named as

Caroline Deswarte

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Nima Parvaneh

series ordinal

14

object named as

Nima Parvaneh

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Carmen Oleaga-Quintas

series ordinal

2

object named as

Carmen Oleaga-Quintas

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Gaspard Kerner

series ordinal

21

object named as

Gaspard Kerner

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Laurent Abel

series ordinal

34

object named as

Laurent Abel

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author name string

Jérémie Rosain

series ordinal

1

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Hannah Verdin

series ordinal

4

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Stéphane Marot

series ordinal

5

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Garyfallia Syridou

series ordinal

6

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Mahboubeh Mansouri

series ordinal

7

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S Alireza Mahdaviani

series ordinal

8

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Edna Venegas-Montoya

series ordinal

9

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Maria Tsolia

series ordinal

10

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Mehrnaz Mesdaghi

series ordinal

11

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Liudmyla Chernyshova

series ordinal

12

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Sara E Espinosa-Padilla

series ordinal

18

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Marco A Yamazaki-Nakashimada

series ordinal

19

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Corinne Jacques

series ordinal

23

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Stéphanie Boisson-Dupuis

series ordinal

29

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Patrick Nitschke

series ordinal

31

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Frederic Tores

series ordinal

33

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Lizbeth Blancas-Galicia

series ordinal

35

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Elfride De Baere

series ordinal

36

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Christine Bole-Feysot

series ordinal

37

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language of work or name

English

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publication date

July 2018

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published in

Journal of Clinical Immunology

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volume

38

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issue

5

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page(s)

617-627

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cites work

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

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Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection

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EMBOSS: the European Molecular Biology Open Software Suite

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Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency

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PubMed

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12 December 2020

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Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

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12 December 2020

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Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection

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12 December 2020

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Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

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PubMed

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12 December 2020

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Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

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12 December 2020

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The DNA sequence and biology of human chromosome 19

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12 December 2020

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A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors

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PubMed

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12 December 2020

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Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

1 reference

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PubMed

reference URL

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12 December 2020

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Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

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inferred from PubMed ID database lookup

Severe mycobacterial infections in two pairs of Chinese siblings with interleukin-12 receptor beta1 deficiency

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

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inferred from PubMed ID database lookup

Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

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Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

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12 December 2020

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Mechanisms for human genomic rearrangements

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copy number variation in human health, disease, and evolution

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

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Fast and accurate long-read alignment with Burrows-Wheeler transform

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alu elements: know the SINEs

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cutaneous leukocytoclastic vasculitis due to Salmonella enteritidis in a child with interleukin-12 receptor beta-1 deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BLAST: a more efficient report with usability improvements

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis for patients with IL-12 receptor β1 deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IL-12Rβ1 Deficiency and Disseminated Mycobacterium tilburgii Disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IL12Rβ1: the cytokine receptor that we used to know.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Salmonella enteriditis inducing cutaneous leucocytoclasic vasculitis: An unusual complication in a patient with an interleukine- 12 receptor beta-1 deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IL-12 receptor 1β deficiency with features of autoimmunity and photosensitivity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms underlying structural variant formation in genomic disorders

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IL-12Rβ1 defect presenting with massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare: A case report.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

First Association of Interleukin 12 Receptor Beta 1 Deficiency with Sjögren's Syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The UCSC Genome Browser database: 2018 update

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Susceptibility to mycobacterial disease due to mutations in IL-12Rβ1 in three Iranian patients.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29995221

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S10875-018-0527-6

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Dimensions Publication ID

1105493015

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PMC publication ID

6329663

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PubMed publication ID

29995221

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