(Q36605603)

15 August 2017

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections (English)

1 reference

15 August 2017

0 references

Laura Passerini

9

0 references

Chiara Magri

Chiara Magri

10

0 references

Raffaele Badolato

Raffaele Badolato

18

0 references

Stephen F Kingsmore

Stephen F Kingsmore

2

0 references

Giuseppe Rossi

Giuseppe Rossi

4

0 references

author name string

Darrell L Dinwiddie

1

1 reference

15 August 2017

Sonia Caracciolo

3

1 reference

15 August 2017

Daniele Moratto

5

1 reference

15 August 2017

Cinzia Mazza

6

1 reference

15 August 2017

Cristiano Sabelli

7

1 reference

15 August 2017

Rosa Bacchetta

8

1 reference

15 August 2017

Callum J Bell

11

1 reference

15 August 2017

Neil A Miller

12

1 reference

15 August 2017

Shannon L Hateley

13

1 reference

15 August 2017

Carol J Saunders

14

1 reference

15 August 2017

Lu Zhang

15

1 reference

15 August 2017

Gary P Schroth

16

1 reference

15 August 2017

Sergio Barlati

17

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 February 2013

1 reference

The Journal of Allergy and Clinical Immunology

15 August 2017

1 reference

15 August 2017

131

1 reference

15 August 2017

2

1 reference

15 August 2017

594-7.e1-3

1 reference

Carrier testing for severe childhood recessive diseases by next-generation sequencing

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570814

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570814

Human dectin-1 deficiency and mucocutaneous fungal infections

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570814

Combined immunodeficiency associated with DOCK8 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570814

"GenotypeColour": colour visualisation of SNPs and CNVs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570814

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570814

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570814

Immunodeficiencies with autoimmune consequences.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570814

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570814

10.1016/J.JACI.2012.10.062

20 September 2018

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

23374272

1 reference