(Q39438083)

24 June 2018

title

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders (English)

1 reference

24 June 2018

author

Ketil R. Heimdal

43

1 reference

24 June 2018

Francisco Espinosa-Rosales

52

1 reference

24 June 2018

William T. Shearer

90

1 reference

24 June 2018

Emily M. Mace

Emily M Mace

20

0 references

Tomasz Gambin

Tomasz Gambin

4

0 references

Alessandro Aiuti

Alessandro Aiuti

66

0 references

Diana K Bayer

Diana K Bayer

64

0 references

Eric Boerwinkle

88

Eric Boerwinkle

1 reference

PMCID

5222743

24 June 2018

Geir Erland Tjønnfjord

29

Geir E Tjønnfjord

1 reference

24 June 2018

James R. Lupski

93

James R Lupski

1 reference

24 June 2018

Tobias Gedde-Dahl

30

Tobias Gedde-Dahl

1 reference

24 June 2018

Tore G Abrahamsen

35

Tore G Abrahamsen

1 reference

24 June 2018

Richard A Gibbs

89

Richard A Gibbs

1 reference

24 June 2018

Donna Muzny

12

Donna M Muzny

1 reference

24 June 2018

Christine M. Eng

87

Christine M Eng

1 reference

24 June 2018

Yaping Yang

86

Yaping Yang

1 reference

24 June 2018

John W. Belmont

44

John W Belmont

1 reference

24 June 2018

Philip M. Boone

24

Philip M Boone

1 reference

24 June 2018

Mohammad K Eldomery

76

Mohammad K Eldomery

1 reference

24 June 2018

Yavuz Bayram

74

Yavuz Bayram

1 reference

24 June 2018

Asbjørg Stray-Pedersen

1

Asbjørg Stray-Pedersen

1 reference

24 June 2018

Zeynep Coban Akdemir

6

Zeynep H Coban Akdemir

1 reference

24 June 2018

Wojciech Wiszniewski

26

Wojciech Wiszniewski

1 reference

24 June 2018

Shalini Jhangiani

11

Shalini N Jhangiani

1 reference

24 June 2018

Jordan Orange

92

Jordan S Orange

1 reference

24 June 2018

Ender Karaca

71

Ender Karaca

1 reference

24 June 2018

Magdalena A Walkiewicz

85

Magdalena Walkiewicz

1 reference

24 June 2018

Hasibe Artac

73

Hasibe Artac

1 reference

24 June 2018

Torstein Øverland

36

Torstein Øverland

1 reference

24 June 2018

19

Debra L Canter

1 reference

24 June 2018

46

Javier Chinen

1 reference

24 June 2018

3

Pubudu Samarakoon

1 reference

24 June 2018

54

Luis Alberto Pedroza

1 reference

24 June 2018

5

Ivan K Chinn

1 reference

24 June 2018

40

Mari Ann Kulseth

1 reference

24 June 2018

23

Harshal A Abhyankar

1 reference

24 June 2018

41

Trine E Prescott

1 reference

24 June 2018

Hanne Sørmo Sorte

2

1 reference

24 June 2018

Hans Christian Erichsen

7

1 reference

24 June 2018

Lisa R Forbes

8

1 reference

24 June 2018

Shen Gu

9

1 reference

24 June 2018

Bo Yuan

10

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24 June 2018

Olaug Kristin Rødningen

13

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24 June 2018

Ying Sheng

14

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24 June 2018

Sarah K Nicholas

15

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24 June 2018

Lenora M Noroski

16

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24 June 2018

Filiz O Seeborg

17

1 reference

24 June 2018

Carl E Allen

22

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24 June 2018

Christine R Beck

25

1 reference

24 June 2018

Børre Fevang

27

1 reference

24 June 2018

Henrik Hjorth-Hansen

31

1 reference

24 June 2018

Ingunn Dybedal

32

1 reference

24 June 2018

Ingvild Nordøy

33

1 reference

24 June 2018

Silje F Jørgensen

34

1 reference

24 June 2018

Anne Grete Bechensteen

37

1 reference

24 June 2018

Vegard Skogen

38

1 reference

24 June 2018

Cecilie F Rustad

42

1 reference

24 June 2018

Maria Soledad Caldirola

49

1 reference

24 June 2018

Liliana Bezrodnik

50

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24 June 2018

Saul Oswaldo Lugo Reyes

51

1 reference

24 June 2018

Cecilia M Poli

55

1 reference

24 June 2018

Jose L Franco

56

1 reference

24 June 2018

Claudia M Trujillo Vargas

57

1 reference

24 June 2018

Juan Carlos Aldave Becerra

58

1 reference

24 June 2018

Nicola Wright

59

1 reference

24 June 2018

Thomas B Issekutz

60

1 reference

24 June 2018

Andrew C Issekutz

61

1 reference

24 June 2018

Jordan Abbott

62

1 reference

24 June 2018

Jason W Caldwell

63

1 reference

24 June 2018

Alice Y Chan

65

1 reference

24 June 2018

Caterina Cancrini

67

1 reference

24 June 2018

Eva Holmberg

68

1 reference

24 June 2018

Christina West

69

1 reference

24 June 2018

Magnus Burstedt

70

1 reference

24 June 2018

Mehmed Musa Atik

75

1 reference

24 June 2018

Mohammad S Ehlayel

77

1 reference

24 June 2018

Stephen Jolles

78

1 reference

24 June 2018

Berit Flatø

79

1 reference

24 June 2018

Alison A Bertuch

80

1 reference

24 June 2018

I Celine Hanson

81

1 reference

24 June 2018

Victor W Zhang

82

1 reference

24 June 2018

Lee-Jun Wong

83

1 reference

24 June 2018

Jianhong Hu

84

1 reference

24 June 2018

Robert Lyle

91

1 reference

24 June 2018

Carla M Davis

18

1 reference

24 June 2018

Timothy J Vece

21

1 reference

24 June 2018

Liv T N Osnes

39

1 reference

24 June 2018

Nicholas L Rider

45

1 reference

24 June 2018

Tram N Cao

47

1 reference

24 June 2018

Eric A Smith

48

1 reference

24 June 2018

Nina Denisse Guerrero-Cursaru

53

1 reference

24 June 2018

Gözde Yesil

72

1 reference

24 June 2018

language of work or name

English

0 references

publication date

16 July 2016

1 reference

24 June 2018

The Journal of Allergy and Clinical Immunology

published in

1 reference

24 June 2018

volume

139

1 reference

24 June 2018

issue

1

1 reference

24 June 2018

page(s)

232-245

1 reference

24 June 2018

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

cites work

1 reference

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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Performance comparison of four commercial human whole-exome capture platforms

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Gene therapy for monogenic disorders of the bone marrow

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Novel primary immunodeficiency candidate genes predicted by the human gene connectome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Inherited genetic variants associated with occurrence of multiple primary melanoma

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Diagnostics of primary immunodeficiency diseases: a sequencing capture approach

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Molecular findings among patients referred for clinical whole-exome sequencing

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Utility of next generation sequencing in clinical primary immunodeficiencies

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Identification of copy number variants from exome sequence data

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Variant detection sensitivity and biases in whole genome and exome sequencing

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Genome sequencing identifies major causes of severe intellectual disability

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Targeted genome editing in human repopulating haematopoietic stem cells

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

A systematic approach to assessing the clinical significance of genetic variants.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Genome-wide association study identifies three new melanoma susceptibility loci

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Clan genomics and the complex architecture of human disease

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Comparison of solution-based exome capture methods for next generation sequencing

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Exome sequencing as a tool for Mendelian disease gene discovery

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Genome-wide association identifies diverse causes of common variable immunodeficiency

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

A method and server for predicting damaging missense mutations

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Detection of nonneutral substitution rates on mammalian phylogenies

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Identification of deleterious mutations within three human genomes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Distribution and intensity of constraint in mammalian genomic sequence

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Practice parameter for the diagnosis and management of primary immunodeficiency

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

SIFT: Predicting amino acid changes that affect protein function

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Practice parameter for the diagnosis and management of primary immunodeficiency.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Large-scale discovery of novel genetic causes of developmental disorders

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Novel NFKB2 mutation in early-onset CVID.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

MutationTaster2: mutation prediction for the deep-sequencing age.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Diagnostic exome sequencing in persons with severe intellectual disability

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

A de novo paradigm for mental retardation.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Performance status and deaths among children registered in Kuwait National Primary ImmunoDeficiency Disorders Registry.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5222743

Primary immunodeficiency diseases in Norway

21 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27577878

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27577878

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2016.05.042

1 reference

24 June 2018

PMCID

5222743

1 reference

24 June 2018

PubMed ID

27577878

1 reference

24 June 2018