Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease
Christina Torres Kozycki, ...
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome
Lloyd B Williams, ...
An inherited disorder with splenomegaly, cytopenias, and vision loss
Lloyd B Williams, ...
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1
Linqing Zhong, ...
ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss
Yvan Jamilloux, ...
Diagnosis and Phenotypic Characterization of ROSAH Syndrome through Whole Exome Sequence and Segregation Analysis
Demitrios Dedousis, ...
Early onset of TNFalpha-driven arthritis, auto-inflammation and progressive loss of vision in a patient with ALPK1 mutation
Britta Siegmund, ...
ROSAH Syndrome
Foundation
ROSAH Research and Publications
At this time, a lot of physicians are working on ALPK1. The perspectives are enormous.
A lot of parameters play in consideration and the mechanisms are very complicated.
A better understanding of them will give benefits to a lot of people because it could help also to gain a better understanding of bowel cancers (1 million death every year) and bowel diseases like dysentery (40 000 to 100 000 death every year).
ROSAH and ALPK1 have been added to NIH protocol’s section on Conditions/diseases on Clinicaltrials.gov.
A lot of parameters play in consideration and the mechanisms are very complicated.
A better understanding of them will give benefits to a lot of people because it could help also to gain a better understanding of bowel cancers (1 million death every year) and bowel diseases like dysentery (40 000 to 100 000 death every year).
ROSAH and ALPK1 have been added to NIH protocol’s section on Conditions/diseases on Clinicaltrials.gov.
See more... (scroll down)
ROSAH Syndrome
Foundation
ALPK1 publications:
ALPK1 controls TIFA/TRAF6-dependent innate immunity against heptose-1,7-bisphosphate of gram-negative bacteria
Cécile Arrieumerlou, ...
Dissecting the signaling pathways controlling inflammation during Gram-negative bacterial infections
Milica Milivojevic, ...
Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose
Ping Zhou, ...
The ALPK1 pathway drives the inflammatory response to Campylobacter jejuni in human intestinal epithelial cells
Jiannan Cui, ...
Cécile Arrieumerlou, ...
Dissecting the signaling pathways controlling inflammation during Gram-negative bacterial infections
Milica Milivojevic, ...
Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose
Ping Zhou, ...
The ALPK1 pathway drives the inflammatory response to Campylobacter jejuni in human intestinal epithelial cells
Jiannan Cui, ...
See more... (scroll down)
ROSAH Syndrome
Foundation
Other publications:
Commensal microbiota as a potential trigger of autoimmune uveitis
Reiko Horai, Rachel R. Caspi
Cytokines in Autoimmune Uveitis
Reiko Horai, Rachel R. Caspi
Reiko Horai, Rachel R. Caspi
Cytokines in Autoimmune Uveitis
Reiko Horai, Rachel R. Caspi