(Q37068033)

18 August 2017

Additional diverse findings expand the clinical presentation of DOCK8 deficiency (English)

1 reference

18 August 2017

12

Bilgehan Yalcin

1 reference

18 August 2017

Ozden Sanal

1

1 reference

18 August 2017

Huie Jing

2

1 reference

18 August 2017

Tuba Ozgur

3

1 reference

18 August 2017

Deniz Ayvaz

4

1 reference

18 August 2017

Dara M Strauss-Albee

5

1 reference

18 August 2017

Sibel Ersoy-Evans

6

1 reference

18 August 2017

Ilhan Tezcan

7

1 reference

18 August 2017

Gulten Turkkani

8

1 reference

18 August 2017

Helen F Matthews

9

1 reference

18 August 2017

Goknur Haliloglu

10

1 reference

18 August 2017

Aysel Yuce

11

1 reference

18 August 2017

Ozay Gokoz

13

1 reference

18 August 2017

Kader K Oguz

14

1 reference

18 August 2017

Helen C Su

15

1 reference

18 August 2017

4 April 2012

1 reference

Journal of Clinical Immunology

18 August 2017

1 reference

18 August 2017

32

1 reference

18 August 2017

4

1 reference

18 August 2017

698-708

1 reference

https://scigraph.springernature.com/pub.10.1007/s10875-012-9664-5

18 August 2017

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Hyperimmunoglobulin E syndromes in pediatrics.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Cutaneous manifestations of DOCK8 deficiency syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

New insights into the biology of Wiskott-Aldrich syndrome (WAS).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Combined immunodeficiency associated with DOCK8 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Comèl-Netherton syndrome defined as primary immunodeficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Acquired epidermodysplasia verruciformis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

WHIM syndrome: congenital immune deficiency disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Omenn syndrome: inflammation in leaky severe combined immunodeficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Multifocal leiomyosarcomatosis in a 6-year-old child with epidermodysplasia verruciformis and immune defect.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732775

Epidermodysplasia verruciformis associated with isolated IgM deficiency

4 December 2018

1 reference

12 December 2020

1 reference

12 December 2020

Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation

1 reference

12 December 2020

Epidermodysplasia verruciformis (2 cases). Immunological study (author's transl)

1 reference

12 December 2020

Immunologic aspects of hyperimmunoglobulinemia E-like syndrome in patients with AIDS

1 reference

12 December 2020

10.1007/S10875-012-9664-5

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

22476911

1 reference