Details of Disease

Disease Name

X-linked lymphoproliferative syndrome

X-linked lymphoproliferative disease; lymphoproliferative syndrome X-linked 1; lymphoproliferative syndrome, X-linked, 1; X-linked lymphoproliferative syndrome 1; SH2D1A-related lymphoproliferative disease, X-linked; XLP; XLP1; X-linked lymphoproliferative syndrome type 1; lymphoproliferative syndrome, X-linked, type 1; Duncan disease; lymphoproliferative syndrome, X-linked; Purtilo syndrome; X-linked lymphoproliferative syndrome; X linked Lymphoproliferative Syndrome

Definition

X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).|Editor note: two OMIMPS

Disease Hierarchy

DIS3PN9X: X-linked disease

DIS093I0: Immunodeficiency

DISQP21Z: Hereditary hemophagocytic lymphohistiocytosis

DISMVL8O: Lymphoproliferative syndrome

DISA7MJ4: X-linked lymphoproliferative syndrome

Disease Identifiers

MONDO ID

MONDO_0010627

MESH ID

D008232

UMLS CUI

C0549463

MedGen ID

107498

Orphanet ID

2442

SNOMED CT ID

77121009

General Information of Disease (ID: DISA7MJ4)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL17A	TTG0MT6	Limited	Biomarker	[1]
CD2	TTJDUNO	Strong	Biomarker	[2]
SLAMF6	TTSIYJ6	Strong	Altered Expression	[3]
APCS	TTB7VAT	Definitive	Genetic Variation	[4]
ITK	TT3C80U	Definitive	Biomarker	[5]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPRT1	DEVXTP5	Definitive	Biomarker	[6]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLAMF1	OTBTT3ZQ	Limited	Biomarker	[7]
STAG2	OTR6X1Q7	Limited	CausalMutation	[8]
AP5M1	OTDLWEBL	Strong	Biomarker	[9]
CD84	OTAY5B0F	Strong	Biomarker	[10]
IL2RG	OTRZ3OMY	Strong	Biomarker	[11]
LYST	OTIUB1B3	Strong	Biomarker	[12]
SERPINA4	OTBK0GG7	Strong	Biomarker	[13]
TENM1	OTSKSU4V	Strong	Genetic Variation	[14]
CD1D	OT3ROU4J	Definitive	Biomarker	[15]
CD244	OTSMR85N	Definitive	Biomarker	[16]
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⏷ Show the Full List of 10 DOT(s)

References

1	Inorganic arsenic represses interleukin-17A expression in human activated Th17 lymphocytes. Toxicol Appl Pharmacol. 2012 Aug 1;262(3):217-22. doi: 10.1016/j.taap.2012.05.004. Epub 2012 May 19.
2	Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family.Clin Immunol. 2001 Jul;100(1):15-23. doi: 10.1006/clim.2001.5035.
3	NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease.J Exp Med. 2001 Aug 6;194(3):235-46. doi: 10.1084/jem.194.3.235.
4	X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.Eur J Pediatr. 2020 Feb;179(2):327-338. doi: 10.1007/s00431-019-03512-7. Epub 2019 Nov 21.
5	Hematopoietic stem cell transplantation conditioning with use of rituximab in EBV related lymphoproliferative disorders.Clin Immunol. 2014 Apr;151(2):79-83. doi: 10.1016/j.clim.2014.01.007. Epub 2014 Feb 4.
6	Mapping of the X linked form of hyper IgM syndrome (HIGM1).J Med Genet. 1993 Mar;30(3):202-5. doi: 10.1136/jmg.30.3.202.
7	Dissection of SAP-dependent and SAP-independent SLAM family signaling in NKT cell development and humoral immunity.J Exp Med. 2017 Feb;214(2):475-489. doi: 10.1084/jem.20161312. Epub 2017 Jan 3.
8	Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis.Ital J Pediatr. 2016 May 21;42(1):50. doi: 10.1186/s13052-016-0262-7.
9	Matched unrelated allogeneic bone marrow transplantation for recurrent malignant lymphoma in a patient with X-linked lymphoproliferative disease (XLP).Bone Marrow Transplant. 1998 Sep;22(6):603-4. doi: 10.1038/sj.bmt.1701389.
10	Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP.Blood. 2001 Jun 15;97(12):3867-74. doi: 10.1182/blood.v97.12.3867.
11	Lentiviral vectors for the treatment of primary immunodeficiencies.J Inherit Metab Dis. 2014 Jul;37(4):525-33. doi: 10.1007/s10545-014-9690-y. Epub 2014 Mar 12.
12	Familial and acquired hemophagocytic lymphohistiocytosis.Eur J Pediatr. 2007 Feb;166(2):95-109. doi: 10.1007/s00431-006-0258-1. Epub 2006 Dec 7.
13	Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection.Int Immunol. 2002 Oct;14(10):1215-23. doi: 10.1093/intimm/dxf084.
14	Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.Pediatrics. 2012 Feb;129(2):e523-8. doi: 10.1542/peds.2011-0870. Epub 2012 Jan 23.
15	Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations.Clin Immunol. 2009 Jul;132(1):116-23. doi: 10.1016/j.clim.2009.03.517. Epub 2009 Apr 23.
16	Role for glycogen synthase kinase-3 in NK cell cytotoxicity and X-linked lymphoproliferative disease.J Immunol. 2005 Apr 15;174(8):4551-8. doi: 10.4049/jimmunol.174.8.4551.