ZAP70 deficiency

Also Known As:

Selective T-Cell Defect; Zap70-Related Scid; Zap70-Related Severe Combined Immunodeficiency; Zeta-Associated Protein 70 Deficiency; Zeta-associated-protein 70 deficiency

Networked: 12 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Primary Immunodeficiency Diseases: 1189
    - Severe Combined Immunodeficiency: 2749
      - ZAP70 deficiency: 12
- Diseases Newborn Infant: 266
  - Severe Combined Immunodeficiency: 2749
    - ZAP70 deficiency: 12
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - DNA Repair-Deficiency Disorders: 538
    - Severe Combined Immunodeficiency: 2749
      - ZAP70 deficiency: 12
Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1189
    - Severe Combined Immunodeficiency: 2749
      - ZAP70 deficiency: 12
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Phosphotransferases: 42769
      - Phosphotransferases (Alcohol Group Acceptor)
        Protein Kinases: 9677
        Protein-Tyrosine Kinases: 7697
        ZAP-70 Protein-Tyrosine Kinase: 23
        ZAP70 deficiency: 12
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Intracellular Signaling Peptides and Proteins: 32
    - Protein-Tyrosine Kinases: 7697
      - ZAP-70 Protein-Tyrosine Kinase: 23
        ZAP70 deficiency: 12

Related Diseases

1.	Purine Nucleoside Phosphorylase Deficiency
2.	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
3.	Brain Infarction
4.	Lymphopenia (Lymphocytopenia)
5.	Reticular dysgenesis

Experts

1.	Roifman, Chaim M: 3 articles (04/2013 - 12/2010)
2.	Aggarwal, Amita: 1 article (01/2019)
3.	Aluri, Jahnavi: 1 article (01/2019)
4.	Bargir, Umair: 1 article (01/2019)
5.	Dalvi, Aparna: 1 article (01/2019)
6.	Desai, Mukesh: 1 article (01/2019)
7.	Govindaraj, Geeta: 1 article (01/2019)
8.	Guo, Kai: 1 article (01/2019)
9.	Guo, Zhigang: 1 article (01/2019)
10.	Gupta, Maya: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to ZAP70 deficiency:

1.	CholesterolIBA 01/01/2019 - "ZAP70 deficiency improved cholesterol efflux capacity by 14%. " 01/01/2019 - "ZAP70 deficiency promotes reverse cholesterol transport through MAPK/ERK pathway in Jurkat cell."
2.	Proteins (Proteins, Gene)FDA Link 02/01/2013 - "ζ Chain-associated protein of 70 kDa (ZAP70) deficiency in human subjects is associated with abnormalities of thymic stromal cells: Implications for T-cell tolerance." 04/01/2013 - "Emergency treatment for ζ chain-associated protein of 70 kDa (ZAP70) deficiency." 05/01/2015 - "Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency." 12/01/2010 - "ζ-associated protein, 70 kd (ZAP70), deficiency in human subjects results in a combined immunodeficiency characterized by normal numbers of circulating CD4 T cells and CD8 lymphocytopenia. "
3.	Protein Kinases (Protein Kinase)IBA 01/01/2014 - "Thirteen SCID patients were tested: 5 T-negative SCID (3 with adenosine deaminase deficiency, 1 with CD3δ deficiency, and 1 unclassified) and 8 T-positive SCID (5 with zeta chain-associated protein kinase (ZAP70) deficiency and 3 with inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKKβ) deficiency). " 01/01/2019 - "Rare forms of SCID like Purine nucleoside phosphorylase (PNP) deficiency, reticular dysgenesis, DNA-Protein Kinase (DNA-PKcs) deficiency, six cases of MHC class II deficiency and two ZAP70 deficiency were also identified in our cohort. "
4.	T-Cell Antigen Receptors (T-Cell Receptor)IBA 01/01/2019 - "With the exception of MHC class II deficiency and ZAP70 deficiency, all SCID patients had extremely low T cell receptor excision (TRECs) (<18 copies/μL)."
5.	Purine-Nucleoside PhosphorylaseIBA 01/01/2019 - "Rare forms of SCID like Purine nucleoside phosphorylase (PNP) deficiency, reticular dysgenesis, DNA-Protein Kinase (DNA-PKcs) deficiency, six cases of MHC class II deficiency and two ZAP70 deficiency were also identified in our cohort. "
6.	Phosphotransferases (Kinase)IBA 01/01/2014 - "Thirteen SCID patients were tested: 5 T-negative SCID (3 with adenosine deaminase deficiency, 1 with CD3δ deficiency, and 1 unclassified) and 8 T-positive SCID (5 with zeta chain-associated protein kinase (ZAP70) deficiency and 3 with inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKKβ) deficiency). "
7.	Peptides (Polypeptides)IBA 01/01/2014 - "Thirteen SCID patients were tested: 5 T-negative SCID (3 with adenosine deaminase deficiency, 1 with CD3δ deficiency, and 1 unclassified) and 8 T-positive SCID (5 with zeta chain-associated protein kinase (ZAP70) deficiency and 3 with inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKKβ) deficiency). "
8.	InterferonsIBA 12/01/2010 - "We report three cases of BCG disease in children with primary immunodeficiencies: one with a partial recessive interferon-γ receptor 1 deficiency, who developed BCG dissemination; and two relatives with ZAP70 deficiency, a severe combined immunodeficiency, both of whom presented with regional and distant BCG disease. "
9.	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 01/01/2018 - "By N-ethyl-N-nitrosourea (ENU) mutagenesis, we generated the mutant mouse line TUB6 that is characterised by severe combined immunodeficiency (SCID) and systemic sterile autoinflammation in homozygotes, and a selective T cell defect in heterozygotes. "
10.	DNA (Deoxyribonucleic Acid)IBA 01/01/2019 - "Rare forms of SCID like Purine nucleoside phosphorylase (PNP) deficiency, reticular dysgenesis, DNA-Protein Kinase (DNA-PKcs) deficiency, six cases of MHC class II deficiency and two ZAP70 deficiency were also identified in our cohort. "

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 10/01/2016 - "Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency."
2.	Therapeutics 10/01/2016 - "In conclusion, HSCT using a variety of graft sources and approaches, including unconditioned matched sibling donor transplant, is a life-saving therapy for ZAP70 deficiency, providing excellent long-term immune function and resolution of clinical problems."
3.	Emergency Treatment 04/01/2013 - "Emergency treatment for ζ chain-associated protein of 70 kDa (ZAP70) deficiency."