Deficiency of Alpha Interleukin 2 Receptor

mutation in IL2RA

Also Known As:

Interleukin 2 Receptor, Alpha, Deficiency of; CD25 Deficiency; IL2RA Deficiency

Networked: 8 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Deficiency of Alpha Interleukin 2 Receptor: 8
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Membrane Proteins: 10078
    - Cell Surface Receptors: 2125
      - Immunologic Receptors: 9
        Cytokine Receptors: 1620
        Interleukin Receptors: 114
        Interleukin-2 Receptors: 2951
        Interleukin-2 Receptor alpha Subunit: 246
        Deficiency of Alpha Interleukin 2 Receptor: 8

Experts

1.	Gambineri, Eleonora: 3 articles (01/2019 - 11/2010)
2.	Ciullini Mannurita, Sara: 2 articles (01/2019 - 03/2013)
3.	Vignoli, Marina: 2 articles (01/2019 - 03/2013)
4.	Cui, Chaoqun: 1 article (01/2020)
5.	Hou, Jia: 1 article (01/2020)
6.	Lai, Nannan: 1 article (01/2020)
7.	Lin, Li: 1 article (01/2020)
8.	Liu, Luyao: 1 article (01/2020)
9.	Min, Qing: 1 article (01/2020)
10.	Sun, Jinqiao: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Deficiency of Alpha Interleukin 2 Receptor:

1.	Sirolimus (Rapamycin)FDA Link 01/01/2020 - "Effective and safe treatment of a novel IL2RA deficiency with rapamycin."
2.	Interleukin-2 Receptor alpha SubunitIBA 01/01/2023 - "Interleukin 2 receptor alpha chain (IL-2Rα or CD25) deficiency (OMIM #606367) is an immune dysregulation disorder segregating in autosomal recessive form. " 01/01/2018 - "CD25 deficiency (Interleukin-2 receptor alpha deficiency) is a rare subtype of combined B- and T-cell immunodeficiency. "
3.	Interleukin-2 (IL2)IBA 03/01/2013 - "Thus, the complex pathogenesis of CD25 deficiency provides invaluable insight into the role of IL2/IL-2RA-dependent regulation in autoimmunity and inflammatory diseases." 11/01/2005 - "Here we have analyzed the effects of interleukin 2 or CD25 deficiency on agonist-driven thymic development and the peripheral homeostasis of an antigen-specific population of regulatory T cells positive for forkhead family transcription factor Foxp3 and have correlated our observations with polyclonal suppressor populations. "
4.	Interleukin-10 (Interleukin 10)IBA 02/01/2007 - "These data show that CD25 deficiency results in an IPEX-like syndrome and suggests that although Foxp3 is not required for normal IL-10 expression by human CD4 lymphocytes, CD25 expression is important. " 02/01/2007 - "CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes."
5.	Interleukin-2 Receptors (IL 2 Receptor)IBA 11/01/2010 - "PBC is virtually absent in children with the exception of one reported child with interleukin 2 receptor α (CD25) deficiency which is associated with an IPEX-like regulatory T cell dysfunction. "
6.	Transcription Factors (Transcription Factor)IBA 11/01/2005 - "Here we have analyzed the effects of interleukin 2 or CD25 deficiency on agonist-driven thymic development and the peripheral homeostasis of an antigen-specific population of regulatory T cells positive for forkhead family transcription factor Foxp3 and have correlated our observations with polyclonal suppressor populations. "
7.	AntigensIBA 11/01/2005 - "Here we have analyzed the effects of interleukin 2 or CD25 deficiency on agonist-driven thymic development and the peripheral homeostasis of an antigen-specific population of regulatory T cells positive for forkhead family transcription factor Foxp3 and have correlated our observations with polyclonal suppressor populations. "

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 01/01/2019 - "The early clinical and molecular diagnosis of CD25 deficiency in this patient promptly led to hematopoietic stem cell transplantation (HSCT), allowing complete resolution of the symptoms and definitive cure of the disease."