(Q44115998)

29 November 2017

title

Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness (English)

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29 November 2017

7

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29 November 2017

Ursini MV

1

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29 November 2017

Gaetaniello L

2

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29 November 2017

Ambrosio R

3

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29 November 2017

Matrecano E

4

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29 November 2017

Apicella AJ

5

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29 November 2017

Salerno MC

6

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29 November 2017

publication date

1 September 2002

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Clinical and Experimental Immunology

29 November 2017

published in

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29 November 2017

volume

129

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29 November 2017

issue

3

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29 November 2017

page(s)

502-509

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Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model

29 November 2017

cites work

1 reference

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STAT5 signaling in sexually dimorphic gene expression and growth patterns

29 September 2018

1 reference

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Fetal anemia and apoptosis of red cell progenitors in Stat5a-/-5b-/- mice: a direct role for Stat5 in Bcl-X(L) induction

29 September 2018

1 reference

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Stat5 is required for IL-2-induced cell cycle progression of peripheral T cells

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

STAT5 interaction with the T cell receptor complex and stimulation of T cell proliferation.

29 September 2018

1 reference

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Defective expression of p56lck in an infant with severe combined immunodeficiency

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Partial V(D)J recombination activity leads to Omenn syndrome

29 September 2018

1 reference

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Stat5a and Stat5b proteins have essential and nonessential, or redundant, roles in cytokine responses

29 September 2018

1 reference

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Jaks and STATs: biological implications

29 September 2018

1 reference

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Jak2 deficiency defines an essential developmental checkpoint in definitive hematopoiesis

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Jak2 is essential for signaling through a variety of cytokine receptors

29 September 2018

1 reference

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An interleukin-2 receptor gamma chain mutation with normal thymus morphology

29 September 2018

1 reference

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Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature

29 September 2018

1 reference

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Naturally occurring primary deficiencies of the immune system

29 September 2018

1 reference

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Searching for genes involved in the pathogenesis of primary immunodeficiency diseases: lessons from mouse knockouts

29 September 2018

1 reference

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Mechanism of signaling by growth hormone receptor

29 September 2018

1 reference

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JAK2, Ras, and Raf are required for activation of extracellular signal-regulated kinase/mitogen-activated protein kinase by growth hormone

29 September 2018

1 reference

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Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Interleukin 12 (IL-12) induces tyrosine phosphorylation of JAK2 and TYK2: differential use of Janus family tyrosine kinases by IL-2 and IL-12

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

T cell antigen receptor activation pathways: The tyrosine kinase connection

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Human T-cell activation deficiencies

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906458

Phenotype: genotype relationships in growth hormone insensitivity syndrome

29 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12197892

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Growth hormone receptor mutations in children with idiopathic short stature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12197892

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Brain migration disorder and T-cell activation deficiency associated with abnormal signaling through TCR/CD3 complex and hyperactivity of Fyn tyrosine kinase

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12197892

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1046/J.1365-2249.2002.01823.X

1 reference

29 November 2017

0 references

1 reference