hyperzincemia and hypercalprotectinemia

Also Known As:

PAMI syndrome; PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome; myeloid-related proteinemia inflammatory syndrome; proline-serine-threonine phosphatase-interacting protein associated myeloid-related proteinemia inflammatory syndrome

Networked: 10 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - hyperzincemia and hypercalprotectinemia: 10
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - hyperzincemia and hypercalprotectinemia: 10

Related Diseases

1.	Macrophage Activation Syndrome
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Systemic Lupus Erythematosus (Libman-Sacks Disease)
4.	Inflammation (Inflammations)
5.	Cytopenia

Experts

1.	Fessatou, Smaragdi: 2 articles (12/2021 - 11/2015)
2.	Abinun, Mario: 2 articles (01/2021 - 11/2015)
3.	Gattorno, Marco: 2 articles (01/2021 - 11/2015)
4.	Holzinger, Dirk: 2 articles (01/2021 - 11/2015)
5.	Fotis, Lampros: 1 article (12/2021)
6.	Kekkou, Kassiani: 1 article (12/2021)
7.	Papaevangelou, Vassiliki: 1 article (12/2021)
8.	Angeletti, Andrea: 1 article (01/2021)
9.	Balashov, Dmitry: 1 article (01/2021)
10.	Borgia, Paola: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to hyperzincemia and hypercalprotectinemia:

1.	CytokinesIBA 01/01/2021 - "Because of cytokine production in nonhematopoietic tissues, the potential therapeutic effect of allogeneic hematopoietic stem cell transplantation (HSCT) in autoinflammatory disorders, including PAMI syndrome, has remained uncertain. " 01/01/2022 - "This study highlighted that elevated proinflammatory cytokines IL-1β and IL-18, increased pyrin inflammasome activation, and upregulation of NF-κB and IFN signaling pathways in neutrophils play important roles in pathogenicity of PAMI syndrome."
2.	InflammasomesIBA 01/01/2022 - "This study highlighted that elevated proinflammatory cytokines IL-1β and IL-18, increased pyrin inflammasome activation, and upregulation of NF-κB and IFN signaling pathways in neutrophils play important roles in pathogenicity of PAMI syndrome."
3.	Interleukin-18 (Interleukin 18)IBA 01/01/2022 - "This study highlighted that elevated proinflammatory cytokines IL-1β and IL-18, increased pyrin inflammasome activation, and upregulation of NF-κB and IFN signaling pathways in neutrophils play important roles in pathogenicity of PAMI syndrome."
4.	PyrinIBA 01/01/2022 - "This study highlighted that elevated proinflammatory cytokines IL-1β and IL-18, increased pyrin inflammasome activation, and upregulation of NF-κB and IFN signaling pathways in neutrophils play important roles in pathogenicity of PAMI syndrome."
5.	Proteins (Proteins, Gene)FDA Link 11/01/2015 - "Hyperzincemia and hypercalprotectinemia (Hz/Hc) is a distinct autoinflammatory entity involving extremely high serum concentrations of the proinflammatory alarmin myeloid-related protein (MRP) 8/14 (S100A8/S100A9 and calprotectin). " 01/01/2021 - "Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, and the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated myeloid-related proteinemia inflammatory (PAMI) syndrome are two distinct clinical conditions caused by heterozygous mutations of the PSTPIP1 gene. " 01/01/2021 - "Allogeneic HSCT seems to be an effective option to cure cytopenia and severe autoinflammation in PAMI syndrome and may be a curative option for other proline-serine-threonine phosphatase-interacting protein 1-associated inflammatory disorders with poor therapeutic control." 01/01/2021 - "Proline-serine-threonine phosphatase-interacting protein 1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a novel genetic disorder, causing hypercalprotectinemia and hyperzincemia with inflammatory complications accompanied by cytopenia. "
6.	Leukocyte L1 Antigen Complex (Calgranulin)IBA 11/01/2019 - "Hyperzincemia and hypercalprotectinemia is a rare inflammatory disease caused by a mutation in the PSTPIP1 gene, with a dysregulation of calprotectin metabolism. " 11/01/2015 - "Hyperzincemia and hypercalprotectinemia (Hz/Hc) is a distinct autoinflammatory entity involving extremely high serum concentrations of the proinflammatory alarmin myeloid-related protein (MRP) 8/14 (S100A8/S100A9 and calprotectin). "
7.	Proline (L-Proline)FDA Link 01/01/2021 - "Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, and the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated myeloid-related proteinemia inflammatory (PAMI) syndrome are two distinct clinical conditions caused by heterozygous mutations of the PSTPIP1 gene. " 01/01/2021 - "Allogeneic HSCT seems to be an effective option to cure cytopenia and severe autoinflammation in PAMI syndrome and may be a curative option for other proline-serine-threonine phosphatase-interacting protein 1-associated inflammatory disorders with poor therapeutic control." 01/01/2021 - "Proline-serine-threonine phosphatase-interacting protein 1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a novel genetic disorder, causing hypercalprotectinemia and hyperzincemia with inflammatory complications accompanied by cytopenia. "
8.	Phosphoprotein Phosphatases (Phosphatases, Protein)IBA 01/01/2021 - "Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, and the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated myeloid-related proteinemia inflammatory (PAMI) syndrome are two distinct clinical conditions caused by heterozygous mutations of the PSTPIP1 gene. " 01/01/2021 - "Allogeneic HSCT seems to be an effective option to cure cytopenia and severe autoinflammation in PAMI syndrome and may be a curative option for other proline-serine-threonine phosphatase-interacting protein 1-associated inflammatory disorders with poor therapeutic control." 01/01/2021 - "Proline-serine-threonine phosphatase-interacting protein 1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a novel genetic disorder, causing hypercalprotectinemia and hyperzincemia with inflammatory complications accompanied by cytopenia. "
9.	Therapeutic UsesIBA 01/01/2021 - "Because of cytokine production in nonhematopoietic tissues, the potential therapeutic effect of allogeneic hematopoietic stem cell transplantation (HSCT) in autoinflammatory disorders, including PAMI syndrome, has remained uncertain. "
10.	Tacrolimus (Prograf)FDA LinkGeneric 02/01/2009 - "Hyperzincemia and hypercalprotectinemia: unsuccessful treatment with tacrolimus."

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 01/01/2021 - "Because of cytokine production in nonhematopoietic tissues, the potential therapeutic effect of allogeneic hematopoietic stem cell transplantation (HSCT) in autoinflammatory disorders, including PAMI syndrome, has remained uncertain. "
2.	Therapeutics 10/01/2023 - "As PAMI syndrome involves intense systemic inflammation similar to PAH related to systemic lupus erythematosus (SLE), parameters and functional autonomy appropriately responded to early immunosuppressive and vasoactive therapy. "