Version 2.80

Term Description

Analysis of SLAM (signaling lymphocytic activation molecule)-associated protein (SAP) and X-linked inhibitor of apoptosis protein (XIAP) levels by flow cytometry is performed as a preliminary screen for X-linked lymphoproliferative (XLP) disease and X-linked familial hemophagocytic lymphohistiocytosis (HLH). If SAP protein levels are absent or decreased, XLP is suspected. If XIAP protein levels are absent or decreased, HLH (aka XLP-2) is suspected. The diagnosis is confirmed by genetic analysis of the associated genes (SH2D1A gene for XLP, BIRC4 gene for HLH).

Part Description

LP212185-5   Signaling lymphocytic activation molecule (SLAM)-associated & X-linked inhibitor of apoptosis protein
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

Fully-Specified Name

Component
Signaling lymphocytic activation molecule (SLAM)-associated & X-linked inhibitor of apoptosis protein
Property
Imp
Time
Pt
System
WBC
Scale
Nom
Method
Flow cytometry

Additional Names

Long Common Name
SAP and XIAP [Interpretation] in Leukocytes by Flow cytometry (FC)
Short Name
SAP + XIAP WBC FC-Imp
Display Name
SAP and XIAP FC (WBC) [Interp]
Consumer Name Alpha Get Info
SAP and XIAP, White blood cells

Example Answer List: LL4054-4

Source: Dutch Society for Clinical Chemistry and Laboratory Medicine
Answer Code Score Answer ID
SAP or XIAP deficiency not suspected. LA26442-6
SAP deficiency cannot be ruled out. Advise to repeat the test. LA26443-4
XIAP deficiency cannot be ruled out. Advise to repeat the test. LA26444-2
SAP deficiency suspected. SH2D1A gene testing is necessary to confirm the diagnosis of XLP. LA26445-9
XIAP deficiency suspected. BIRC4 gene testing is necessary to confirm the diagnosis of HLH (XLP-2). LA26446-7

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58 (ADD)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Μόριο ενεργοποίησης λεμφοκυτταρικής σηματοδότησης (SLAM) & Χ-φυλοσυνδετος αναστολέας πρωτεϊνών απόπτωσης:Imp:Pt:Αριθμός λευκών αιμοσφαιρίων:Nom:Κυτταρομετρία ροής
Synonyms: Imp Μόριο ενεργοποίησης λεμφοκυτταρικής σηματοδότησης (SLAM) & Χ-φυλοσυνδετος αναστολέας πρωτεϊνών απόπτωσης Πρωτεΐνη
es-ES Spanish (Spain) Molécula linfocitaria activadora de señales (SLAM) inhibidora de la proteína de la apoptosis asociada y ligada al cromosoma X:Impresión/interpretación del estudio:Punto temporal:Células sanguineas blancas:Nom:Citometria de flujo (FC)
es-MX Spanish (Mexico) Molécula de activación linfocítica de señalización (SLAM) - inhibidor asociado y ligado al cromosoma X de la proteína de apoptosis:Impresión / interpretación del estudio:Punto temporal:células blancas de la sangre:Nominal:Citometría de flujo (FC)
fr-FR French (France) Molécule signal d'activation lymphocytaire et X-linked inhibitor de l'apoptose:Interprétation:Ponctuel:Leucocytes:Résultat nominal:Cytométrie de flux
it-IT Italian (Italy) Molecola di attivazione del segnale linfocitario (SLAM)-associato & proteina inibitrice dell'apoptosi X-linked:Imp:Pt:WBC:Nom:Citometria a flusso
Synonyms: Chimica Citometria a flusso (FC) Globuli bianchi Impressione/interpretazione di studio Punto nel tempo (episodio) SAP e XIAP
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:印象:时间点:白细胞:名义型:流式细胞测量术
Synonyms: PR;Prot;成分 - 化学 - 蛋白质类;蛋白;朊;蛋白质类;蛋白质类物质 WBC;WBCs;白血球;白血细胞 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;SLAM相关蛋白与X染色体连锁凋亡抑制蛋白;信号淋巴细胞激活分子相关蛋白与X-连锁凋亡抑制蛋白;SAP蛋白与XIAP蛋白;SAP与XIAP;SAP和XIAP;Signaling lymphocytic activation molecule (SLAM)-associated & X-linked inhibitor of apoptosis protein;SAP and XIAP 关联的 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 动态 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 抑制因子 抑制物 抑制物质 时刻;随机;随意;瞬间 有联系的 流 流式细胞光度计;流式细胞测量术（Flow Cytometry，FC）;流式细胞计 相关的

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