LP212185-5
Signaling lymphocytic activation molecule (SLAM)-associated & X-linked inhibitor of apoptosis protein
Active
Description
Signaling lymphocytic activation molecule (SLAM)-associated protein (SAP) and X-linked inhibitor of apoptosis protein (XIAP) levels are measured for the diagnosis of X-linked lymphoproliferative (XLP) disease and X-linked familial hemophagocytic lymphohistiocytosis (HLH). XLP (aka XLP-1, Duncan disease, and Purtilo syndrome) and HLH (aka XLP-2) are two types of X-linked lymphoproliferative diseases described to date. XLP is caused by mutations in the SH2D1A gene, which encodes the cytoplasmic adaptor protein SAP. If the SAP protein is low, patients develop dysgammaglobulinemia, fulminant mononucleosis following infection with Epstein Barr virus (EBV), and B-cell lymphoma. HLH is caused by mutations in the XIAP gene, which encodes the XIAP protein. Patients with HLH commonly present with splenomegaly and recurrent episodes of hemophagocytic lymphohistiocytosis, often in response to EBV infection.[Atlas Genetics KPrones: XlinkedlymphoproliferID10028] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Signaling lymphocytic activation molecule (SLAM)-associated & X-linked inhibitor of apoptosis protein
- Part Display Name
- SAP and XIAP
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-04-28
- Construct for LOINC Short Name
- SAP + XIAP
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Molécula linfocitaria activadora de señales (SLAM) inhibidora de la proteína de la apoptosis asociada y ligada al cromosoma X |
| zh-CN | Chinese (China) | 信号淋巴细胞激活分子相关蛋白与X连锁凋亡抑制蛋白 Synonyms: 信号淋巴细胞激活分子相关蛋白与X染色体连锁凋亡抑制蛋白; |
| it-IT | Italian (Italy) | Molecola di attivazione del segnale linfocitario (SLAM)-associato & proteina inibitrice dell'apoptosi X-linked Synonyms: SAP e XIAP |
| el-GR | Greek (Greece) | Μόριο ενεργοποίησης λεμφοκυτταρικής σηματοδότησης (SLAM) & Χ-φυλοσυνδετος αναστολέας πρωτεϊνών απόπτωσης Synonyms: Μόριο ενεργοποίησης λεμφοκυτταρικής σηματοδότησης (SLAM) & Χ-φυλοσυνδετος αναστολέας πρωτεϊνών απόπτωσης |
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