
XLP2 | Causes, Symptoms, Diagnosis & Treatment
What is XLP2 or XIAP Deficiency? XLP2 is a type of X-linked lymphoproliferative disease. XLP2 typically affects males. It can also occasionally affect females. The condition was first …
X-linked Lymphoproliferative Syndrome - Children's Hospital of Philadelphia
When XLP is due to mutations in the XIAP gene, it is sometimes referred to as "XLP2." The SH2D1A gene produces a protein called SAP, which regulates how white blood cells combat …
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 …
可治性罕见病—X-连锁淋巴增生症 - 知乎
目前,XLP归为免疫失调性疾病,已经确定两个致病基因,根据致病基因将其区分为两个临床表型:XLP1和XLP2。 XLP1是第1个发现的,由 SH2D1A基因 突变所致,该基因位于X染色体q25 …
X-Linked Lymphoproliferative Disease (XLP) | Diagnosis
What Is X-Linked Lymphoproliferative Disease? X-linked lymphoproliferative disease (XLP) is a rare genetic disorder that causes the immune system to overreact to infections. It mostly …
X-Linked Lymphoproliferative Disease (XLP) - National Institute …
Apr 1, 2019 · XLP is caused by mutations in a gene called SH2D1A, which is located on the X chromosome and provides instructions for making SAP protein. These mutations can alter the …
Entry - #300635 - LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 …
Nov 28, 2017 · XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune …
X-linked lymphoproliferative disease: MedlinePlus Genetics
XLP can be divided into two types based on its genetic cause and pattern of signs and symptoms: XLP1 (also known as classic XLP) and XLP2. People with XLP2 have not been known to …
X-linked lymphoproliferative disease due to XIAP deficiency (XLP2)
From OMIM XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune …
X-Linked Lymphoproliferative Disease - PubMed
Clinical characteristics: X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to …
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