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 …

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 …

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 …

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 …

2004年2月27日 · XLP has two recognizable subtypes, XLP1 (due to pathogenic variants in SH2D1A) and XLP2 (due to pathogenic variants in XIAP). HLH / fulminant infectious …

XLP2是由编码蛋白分子X-连锁凋亡抑制剂( X-Iinked inhibitor-of-apoptosis，XIAP)的基因突变所致，是2006年发现的与XLP相关的分子缺陷[6]。XLP1与XLP2有共同的临床表现，但又各有特点。

2017年11月28日 · 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 …

2020年4月13日 · XLP2 即 X 连锁凋亡抑制因子(X-linked inhibitor of apoptosis，XIAP) 缺陷。 其主要临床表现为噬血细胞综合征，部分患者可出现肠道炎症，如克罗恩病或者结肠炎等，但很少 …

XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an …

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 …