(Q37489514)

20 August 2017

First reported case of Omenn syndrome in a patient with reticular dysgenesis (English)

1 reference

20 August 2017

1 reference

1 reference

8

Luigi D Notarangelo

1 reference

20 August 2017

Lauren A Henderson

1

1 reference

20 August 2017

Francesco Frugoni

2

1 reference

20 August 2017

Gregory Hopkins

3

1 reference

20 August 2017

Waleed Al-Herz

4

1 reference

20 August 2017

Katja Weinacht

5

1 reference

20 August 2017

Anne Marie Comeau

6

1 reference

20 August 2017

Francisco A Bonilla

7

1 reference

20 August 2017

Sung-Yun Pai

9

1 reference

20 August 2017

language of work or name

English

0 references

publication date

24 September 2012

1 reference

The Journal of Allergy and Clinical Immunology

20 August 2017

1 reference

20 August 2017

131

1 reference

20 August 2017

4

1 reference

20 August 2017

1227-30, 1230.e1-3

1 reference

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894621

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894621

Omenn syndrome: inflammation in leaky severe combined immunodeficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894621

Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894621

Haemopoietic stem-cell transplantation with antibody-based minimal-intensity conditioning: a phase 1/2 study

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894621

High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894621

Cardiac chamber hypertrophy following hematopoietic stem cell transplantation for primary immunodeficiency.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894621

Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894621

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894621

Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23014587

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2012.07.045

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

23014587

1 reference