What is XIAP deficiency?
X-linked inhibitor of apoptosis protein (XIAP) deficiency is a rare, inherited immunodeficiency that occurs almost exclusively in boys. Sometimes it is called X-linked lymphoproliferative type 2 disorder (XLP2).
What is XIAP mutation?
XIAP gene mutations have been identified in some people with X-linked lymphoproliferative disease (XLP). These mutations reduce or eliminate production of the XIAP protein.
What is XLP disease?
X-linked lymphoproliferative (XLP) syndrome is an extremely rare inherited (primary) immunodeficiency disorder characterized by a defective immune system that is powerfully responsive to infection with the Epstein-Barr virus (EBV).
Is Xiap a protein?
X-linked inhibitor of apoptosis protein (XIAP), also known as inhibitor of apoptosis protein 3 (IAP3) and baculoviral IAP repeat-containing protein 4 (BIRC4), is a protein that stops apoptotic cell death. In humans, this protein (XIAP) is produced by a gene named XIAP gene located on the X chromosome.
How is XLP diagnosed?
A diagnosis of either type of XLP can be confirmed with genetic testing . Of note, there have been males with mutations known to cause XLP that have not developed symptoms. The only cure for XLP is allogeneic hematopoietic cell transplantation, which should be considered as early as possible.
Is necroptosis and necrosis same?
Necroptosis is a programmed form of necrosis, or inflammatory cell death. Conventionally, necrosis is associated with unprogrammed cell death resulting from cellular damage or infiltration by pathogens, in contrast to orderly, programmed cell death via apoptosis.
Is necroptosis a type of necrosis?
Necroptosis is a regulated necrosis mediated by death receptors [4]. This form of necrosis works against pathogen-mediated infections, morphologically characterized by cell swelling followed by rupturing of plasma membrane.
What are the hallmarks of a XIAP deficiency?
The hallmarks of XIAP deficiency are: inflammatory bowel disease, with symptoms of abdominal pain and diarrhoea, sometimes containing blood. *HLH is a serious condition where the body reacts inappropriately to a ‘trigger’.
How is XIAP deficiency related to inherited IBD?
XIAP deficiency can be considered as one of the genetic causes for inherited IBD. XIAP is an anti-apoptotic molecule, but it is also involved in many other pathways.
Is the XIAP X gene an inhibitor of apoptosis?
Xiap X-linked inhibitor of apoptosis [ (house mouse)] Summary. The protein encoded by this gene is a member of the inhibitor of apoptosis (IAP) family of proteins.
What is the role of XIAP in innate immunity?
Recent findings demonstrate the role of XIAP in innate immunity and in the negative regulation of inflammation. In this review, we focus on the clinical aspects, the molecular etiology and the immunopathogenesis of XIAP deficiency. We also discuss recent progress in the understanding of XIAP function in relation to the pathophysiology of XLP-2.