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 described in 2006. Only about 100 young males have been diagnosed with it so far. XLP2 is caused by a change in the XIAP gene.

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 infections such as Epstein-Barr virus and controls how they produce antibodies and other immunoregulatory molecules.

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 known as BIRC4) gene. [3][6] XLP2 patients express different features from those typically found in XLP1 patients, such as splenomegaly and colitis.

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 - 26，编码蛋白为淋巴信号活化分子 (signaling Iymphocytic activation molecule，SLAM)相关蛋白 (SLAM associated protein，SAP)，这是临床上最常见的引起XLP的基因突变，大约可见于60%的XLP患者 [5]。 XLP2是由编码蛋白分子X-连锁凋亡抑制剂 ( X-Iinked inhibitor-of-apoptosis， …

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 affects males because of how the genes are inherited. Another name for …

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 …

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 dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or ...

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 develop lymphoma, are more likely to develop hemophagocytic lymphohistiocytosis without EBV infection, usually have an enlarged spleen (splenomegaly), and may also ...

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 dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or ...

Clinical characteristics: X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma).