
X-Linked Lymphoproliferative Disease 2 (XLP2) / XIAP Deficiency
XLP2 is caused by a change in the XIAP gene. This is sometimes called the BIRC4 gene. The XIAP gene codes for the XIAP protein that the body needs to regulate the immune system.
X-linked Lymphoproliferative Syndrome - Children's Hospital of Philadelphia
X-linked lymphoproliferative syndrome develops as the result of a mutation in one of two different genes, SH2D1A or XIAP (also known as BIRC4), both of which are located on the X …
X-Linked Lymphoproliferative Disease (XLP) | Diagnosis
There are two types of X-linked lymphoproliferative diseases: XLP1 and XLP2 / XIAP deficiency. An estimated one out of every one million young males has XLP1. XLP2 is even rarer, …
X-Linked Lymphoproliferative Disease - GeneReviews® - NCBI Bookshelf
Feb 27, 2004 · The diagnosis of XLP1 or XLP2 can be established in a male proband who has a hemizygous germline pathogenic variant in SH2D1A (XLP1) or XIAP (XLP2) identified on …
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: …
X-linked Lymphoproliferative Syndrome | St. Jude Care & Treatment
Mutations in a gene called XIAP (also known as BIRC4) cause XLP-2. The XIAP gene produces a protein known as X-linked inhibitor of apoptosis (XIAP). This protein helps to prevent cell death.
X-linked lymphoproliferative disease - MedlinePlus
SH2D1A gene mutations cause XLP1, and XIAP gene mutations cause XLP2. The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule …
X-linked lymphoproliferative disease - Wikipedia
Any instance of XLP caused by a mutation not in SHD21A is categorized as XLP2, although the variation is typically caused by mutations in the XIAP (X-linked inhibitor of apoptosis, also …
XIAP deficiency syndrome in humans - PubMed
The X-linked inhibitor of apoptosis (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome type 2 (XLP-2), is a rare primary immunodeficiency. XIAP …
X-linked inhibitor of apoptosis protein (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 …