Details of Disease

General Information of Disease (ID: DISA1J7W)

Disease Name	Leukocyte adhesion deficiency type 1
Synonyms	Lfa1 immunodeficiency; leukocyte adhesion deficiency, type I; LFA 1 immunodeficiency; leukocyte adhesion deficiency, type 1; Lad1; lad; lad 1; leukocyte adhesion deficiency; leukocyte adhesion deficiency type I; LFA1 immunodeficiency; leukocyte adhesion deficiency type 1; leukocyte adhesion deficiency 1; ITGB2 leukocyte adhesion deficiency; lad-I; lymphocyte function-associated antigen 1 immunodeficiency; LFA-I deficiency; lad-type I; leukocyte adhesion deficiency caused by mutation in ITGB2; LAD1
Disease Class	4A00: Innate/adaptive immunodeficiency
Definition	Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.
Disease Hierarchy	DISEJ9VG: Leukocyte adhesion deficiency DISA1J7W: Leukocyte adhesion deficiency type 1
ICD Code	ICD-11 ICD-11: 4A00.0Y
Disease Identifiers	MONDO ID MONDO_0007293 MESH ID C535887 UMLS CUI C0398738 OMIM ID 116920 MedGen ID 98310 Orphanet ID 99842 SNOMED CT ID 234582006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
RP-L201	DMKVMWO	Phase 1/2	Gene therapy	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ITGAL	TT48WR6	Strong	Genetic Variation	[2]
ITGB2	TTIJWR7	Strong	Genetic Variation	[3]
ITGB2	TTIJWR7	Definitive	Autosomal recessive	[4]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A10	DT3BI6S	Strong	Biomarker	[5]
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This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LAD1	OT6YGTVX	Limited	Genetic Variation	[6]
ATG12	OTJRO09Y	Strong	Biomarker	[7]
ATP2C1	OTQN51T3	Strong	Altered Expression	[8]
C5orf34	OTT2ESR4	Strong	Altered Expression	[9]
CKAP2L	OT4T73GG	Strong	Altered Expression	[10]
COL17A1	OTID5AH2	Strong	Genetic Variation	[6]
ENKUR	OTXXBBQT	Strong	Altered Expression	[11]
FERMT3	OTFQOT3C	Strong	Genetic Variation	[12]
HCP5	OTV0YRI8	Strong	Altered Expression	[13]
SKAP2	OTSF44KP	Strong	Biomarker	[14]
TEAD4	OTJS0T2B	Strong	Biomarker	[15]
ITGB2	OTEKPEPR	Definitive	Autosomal recessive	[4]
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⏷ Show the Full List of 12 DOT(s)

References

1	ClinicalTrials.gov (NCT03812263) A Clinical Trial to Evaluate the Safety and Efficacy of RP-L201 in Subjects With Leukocyte Adhesion Deficiency-I. U.S. National Institutes of Health.
2	Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: Including one novel mutation.Immunol Lett. 2017 Jul;187:7-13. doi: 10.1016/j.imlet.2017.04.012. Epub 2017 Apr 23.
3	Macrophage 2-Integrins Regulate IL-22 by ILC3s and Protect from Lethal Citrobacter rodentium-Induced Colitis.Cell Rep. 2019 Feb 5;26(6):1614-1626.e5. doi: 10.1016/j.celrep.2019.01.054.
4	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5	Expression of Notch-1 and its clinical significance in different histological subtypes of human lung adenocarcinoma.J Exp Clin Cancer Res. 2013 Oct 27;32(1):84. doi: 10.1186/1756-9966-32-84.
6	CD18 deficiency evolving to megakaryocytic (M7) acute myeloid leukemia: case report.Blood Cells Mol Dis. 2014 Dec;53(4):180-4. doi: 10.1016/j.bcmd.2014.07.005. Epub 2014 Aug 5.
7	MiR-200b regulates autophagy associated with chemoresistance in human lung adenocarcinoma.Oncotarget. 2015 Oct 20;6(32):32805-20. doi: 10.18632/oncotarget.5352.
8	Long noncoding RNA DANCR promotes HMGA2mediated invasion in lung adenocarcinoma cells.Oncol Rep. 2019 Feb;41(2):1083-1090. doi: 10.3892/or.2018.6897. Epub 2018 Nov 30.
9	Up-regulation of C5orf34 promotes lung adenocarcinoma migration and is correlated with worse prognosis.Gene. 2019 May 15;696:47-53. doi: 10.1016/j.gene.2019.02.019. Epub 2019 Feb 13.
10	Up-regulation of CKAP2L expression promotes lung adenocarcinoma invasion and is associated with poor prognosis.Onco Targets Ther. 2019 Feb 12;12:1171-1180. doi: 10.2147/OTT.S182242. eCollection 2019.
11	ENKUR acts as a tumor suppressor in lung adenocarcinoma cells through PI3K/Akt and MAPK/ERK signaling pathways.J Cancer. 2019 Jul 5;10(17):3975-3984. doi: 10.7150/jca.30021. eCollection 2019.
12	Leucocyte adhesion deficiency-A multicentre national experience.Eur J Clin Invest. 2019 Feb;49(2):e13047. doi: 10.1111/eci.13047. Epub 2019 Jan 4.
13	Revealing potential long non-coding RNA biomarkers in lung adenocarcinoma using long non-coding RNA-mediated competitive endogenous RNA network.Braz J Med Biol Res. 2017 Aug 7;50(9):e6297. doi: 10.1590/1414-431X20176297.
14	Skap2 is required for (2) integrin-mediated neutrophil recruitment and functions.J Exp Med. 2017 Mar 6;214(3):851-874. doi: 10.1084/jem.20160647. Epub 2017 Feb 9.
15	TEAD4 exerts pro-metastatic effects and is negatively regulated by miR6839-3p in lung adenocarcinoma progression.J Cell Mol Med. 2018 Jul;22(7):3560-3571. doi: 10.1111/jcmm.13634. Epub 2018 Apr 18.