Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
0.030 Biomarker disease BEFREE 21<sup>st</sup> Century FOX: Toward Gene Therapy for the Regulatory T Cell Deficiency Syndrome IPEX. 30735648 2019
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
0.030 Biomarker disease BEFREE Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. 25468195 2015
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
0.030 Biomarker disease BEFREE Recent progress includes the identification of gain-of-function mutations in STAT1 as a cause of an IPEX-like disease, emerging FOXP3 genotype/phenotype relationships in IPEX, and the elucidation of a role for the microbiota in the immune dysregulation associated with regulatory T cell deficiency. 24240290 2013
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
0.020 Biomarker disease BEFREE Correction of T cell deficiency in ZAP-70 knock-out mice by simple intraperitoneal adoptive transfer of thymocytes. 29431868 2018
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
0.020 Biomarker disease BEFREE Phenotypic features of selective T cell deficiency characterized by absence of CD8+ T lymphocytes and undetectable mRNA for ZAP-70 kinase. 9245543 1997
Entrez Id: 4860
Gene Symbol: PNP
PNP
0.020 AlteredExpression disease BEFREE He was found to have T-cell deficiency with lack of red and white cell purine nucleoside phosphorylase enzyme activity.A spastic tetraparesis was noted. 6791594 1981
Entrez Id: 4860
Gene Symbol: PNP
PNP
0.020 Biomarker disease BEFREE Any of the mutations can be responsible for a lack of purine NP and the development of the characteristic T-cell deficiency syndrome. 6778206 1980
Entrez Id: 3578
Gene Symbol: IL9
IL9
0.010 Biomarker disease BEFREE Although decreased mast cells correlated with higher parasite egg burden and delayed clearance in vivo, T cell deficiency in IL-9 also likely contributes to the phenotype. 31350354 2019
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
0.010 Biomarker disease BEFREE Adoptive transfer experiments demonstrated that CD8+ T cell deficiency accounts for the enhanced beige adipogenesis in Rag1-/- mice. 29515042 2018
Entrez Id: 50616
Gene Symbol: IL22
IL22
0.010 Biomarker disease BEFREE Manipulation of the ILC-IL-22-TEC axis may be useful for augmenting immune reconstitution after clinical hematopoietic transplantation and other settings of T-cell deficiency. 28607133 2017
Entrez Id: 90865
Gene Symbol: IL33
IL33
0.010 Biomarker disease BEFREE Ozone increased ST2+ γδ T cells, indicating that these cells can be targets of IL-33, and γδ T cell deficiency reduced obesity-related increases in the response to ozone, including increases in type 2 cytokines. 27472835 2017
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.010 Biomarker disease BEFREE γδ T-cell deficiency resulted in elevated IFN-γ in CD4<sup>+</sup> T cells but not in natural killer or natural killer T cells. 28092402 2017
Entrez Id: 10850
Gene Symbol: CCL27
CCL27
0.010 Biomarker disease BEFREE Manipulation of the ILC-IL-22-TEC axis may be useful for augmenting immune reconstitution after clinical hematopoietic transplantation and other settings of T-cell deficiency. 28607133 2017
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
0.010 GeneticVariation disease BEFREE Recent progress includes the identification of gain-of-function mutations in STAT1 as a cause of an IPEX-like disease, emerging FOXP3 genotype/phenotype relationships in IPEX, and the elucidation of a role for the microbiota in the immune dysregulation associated with regulatory T cell deficiency. 24240290 2013
Entrez Id: 399
Gene Symbol: RHOH
RHOH
0.010 GeneticVariation disease BEFREE We found that 2 young adult siblings presenting with T cell deficiency and various infectious diseases, including persistent EV-HPV infections, were homozygous for a mutation creating a stop codon in the ras homolog gene family member H (RHOH) gene. 22850876 2012
Entrez Id: 3700
Gene Symbol: ITIH4
ITIH4
0.010 Biomarker disease BEFREE Taken together, the novel CD8(+) Gp120-Texo vaccine capable of stimulating efficient CD4(+) T cell-independent Gp120-specific CD8(+) CTL responses leading to therapeutic and long-term immunity in Tg HLA-A2 mice may represent a new immunotherapeutic vaccine for treatment of HIV-1 patients with CD4(+) T cell deficiency. 22484292 2012
Entrez Id: 3601
Gene Symbol: IL15RA
IL15RA
0.010 Biomarker disease BEFREE Moreover, the gene transfer procedure partly rescued the NK and memory T-cell deficiency observed in IL-15Rα(-/-) mice. pApo-hIL15+ pSushi gene transfer to the liver showed a modest therapeutic activity against subcutaneously transplanted MC38 colon carcinoma tumors, that was more evident when tumors were set up as liver metastases. 23285013 2012
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
0.010 Biomarker disease BEFREE Based on the previous discovery of STIM1 deficiency in a single family with a severe T cell immunodeficiency and the much higher risk of KS in individuals with acquired T cell deficiencies, we conclude that STIM1 T cell deficiency precipitated the development of lethal KS in this child upon infection with HHV-8. 20876309 2010
Entrez Id: 10148
Gene Symbol: EBI3
EBI3
0.010 Biomarker disease BEFREE Thus, cytokine receptor deficiencies may contribute to immune deficiency in HIV-infected patients, and Cgamma chain cytokines may play an important role in vivo in immune homeostasis in lymphopenic patients by maintaining the memory subsets of T cells in patients with CD4 T cell deficiency. 17917047 2007
Entrez Id: 8809
Gene Symbol: IL18R1
IL18R1
0.010 Biomarker disease BEFREE Thus, cytokine receptor deficiencies may contribute to immune deficiency in HIV-infected patients, and Cgamma chain cytokines may play an important role in vivo in immune homeostasis in lymphopenic patients by maintaining the memory subsets of T cells in patients with CD4 T cell deficiency. 17917047 2007
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
0.010 GeneticVariation disease BEFREE Artemis gene mutations are responsible for the development of a severe combined immunodeficiency [radiation-sensitive (RS) SCID] characterized by a severe B and T cell deficiency and a normal natural killer cell population. 17062750 2006
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
0.010 GeneticVariation disease BEFREE Patients with a moderate X-linked combined immunodeficiency (XCID) owing to a single missense mutation in the common gamma chain (gammac) gene (L-->Q271) were found to have a progressive T-cell deficiency. 11902333 2001
Entrez Id: 9993
Gene Symbol: DGCR2
DGCR2
0.010 Biomarker disease BEFREE Hemizygosity of the proximal region, designated DGCR2, can cause cardiac defect and T cell deficiency. 10633131 2000
Entrez Id: 3308
Gene Symbol: HSPA4
HSPA4
0.010 Biomarker disease BEFREE Furthermore, injection of normal bone marrow cells into the T-cell deficient mice led to the generation of mature T cells indicating that the T-cell deficiency was caused by the action of HSP70 in T cells. 9893045 1998
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.010 Biomarker disease BEFREE CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. 9099830 1997