MCID: LKC009
MIFTS: 56

Leukocyte Adhesion Deficiency, Type I

Categories: Genetic diseases, Immune diseases, Blood diseases, Rare diseases

Aliases & Classifications for Leukocyte Adhesion Deficiency, Type I

MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type I:

Name: Leukocyte Adhesion Deficiency, Type I 53 51
Leukocyte Adhesion Deficiency 53 12 55 36 13 14
Congenital Leukocyte Adherence Deficiency 12 69
Leukocyte Adhesion Deficiency Syndrome 72 51
Leukocyte-Adhesion Deficiency Syndrome 41 69
Leukocyte Adhesion Deficiency Type 1 69 28
Lad1 53 71
Lad 53 55
Lymphocyte Function-Associated Antigen 1 Immunodeficiency 53
Leukocyte Adhesion Deficiency Type I 55
Leukocyte Adhesion Deficiency 1 71
Lfa1 Immunodeficiency 53
Lad-I 55

Characteristics:

Orphanet epidemiological data:

55
leukocyte adhesion deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: early childhood;
leukocyte adhesion deficiency type i
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
corrected by bone marrow transplantation
delayed separation of umbilical cord


HPO:

31
leukocyte adhesion deficiency, type i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare immunological diseases


External Ids:

OMIM 53 116920
Disease Ontology 12 DOID:6612
ICD10 32 D84.8
MeSH 41 D018370
NCIt 46 C27874
SNOMED-CT 64 77358003
MESH via Orphanet 42 D018370 C535887
UMLS via Orphanet 70 C0242597 C0398738
ICD10 via Orphanet 33 D84.8
KEGG 36 H00099

Summaries for Leukocyte Adhesion Deficiency, Type I

OMIM : 53 Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression. (116920)

MalaCards based summary : Leukocyte Adhesion Deficiency, Type I, also known as leukocyte adhesion deficiency, is related to leukocyte adhesion deficiency, type iii and mooren's ulcer, and has symptoms including leukocytosis, gingivitis and periodontitis. An important gene associated with Leukocyte Adhesion Deficiency, Type I is ITGB2 (Integrin Subunit Beta 2), and among its related pathways/superpathways are Leukocyte transendothelial migration and Response to elevated platelet cytosolic Ca2+. The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, monocytes and bone, and related phenotypes are hematopoietic system and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 Leukocyte adhesion deficiency 1: LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions.

Wikipedia : 72 Leukocyte adhesion deficiency (LAD), is a rare autosomal recessive disorder characterized by... more...

Related Diseases for Leukocyte Adhesion Deficiency, Type I

Graphical network of the top 20 diseases related to Leukocyte Adhesion Deficiency, Type I:



Diseases related to Leukocyte Adhesion Deficiency, Type I

Symptoms & Phenotypes for Leukocyte Adhesion Deficiency, Type I

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Mouth:
gingivitis

Hematology:
leukocytosis with predominant granulocytosis (20,000-100,000 /mm3) common

Laboratory Abnormalities:
low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein

Head And Neck Teeth:
periodontitis

Immunology:
perirectal abscesses
recurrent staphylococcal and gram-negative infections
poor adhesion related functions, such as adhesion to endothelial cells, chemotaxis, and antibody-dependent cellular cytotoxicity


Clinical features from OMIM:

116920

Human phenotypes related to Leukocyte Adhesion Deficiency, Type I:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 leukocytosis 31 frequent (33%) HP:0001974
2 gingivitis 31 HP:0000230
3 periodontitis 31 HP:0000704
4 rectal abscess 31 HP:0005224
5 recurrent staphylococcal infections 31 HP:0007499
6 recurrent gram-negative bacterial infections 31 HP:0005420

MGI Mouse Phenotypes related to Leukocyte Adhesion Deficiency, Type I:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.91 FERMT3 IL17A ITGAM ITGB2 RASGRP2 SELE
2 homeostasis/metabolism MP:0005376 9.85 SELE SELL SLC35C1 TLN1 FERMT1 FERMT3
3 immune system MP:0005387 9.65 FERMT1 FERMT3 IL17A ITGAM ITGB2 RASGRP2
4 integument MP:0010771 9.1 FERMT1 FERMT3 ITGB2 SELE SELL SLC35C1

Drugs & Therapeutics for Leukocyte Adhesion Deficiency, Type I

Drugs for Leukocyte Adhesion Deficiency, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2,Early Phase 1 216503-57-0
2
Fludarabine Approved Phase 2,Early Phase 1 21679-14-1, 75607-67-9 30751
3
Ustekinumab Approved, Investigational Phase 2 815610-63-0
4
Hydroxyurea Approved Phase 2 127-07-1 3657
5
Melphalan Approved Phase 2 148-82-3 460612 4053
6 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
7
Methylprednisolone Approved, Vet_approved Phase 2,Not Applicable 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 2,Not Applicable 50-24-8 5755
9
Prednisone Approved, Vet_approved Phase 2,Not Applicable 53-03-2 5865
10 Anti-Infective Agents Phase 2,Early Phase 1,Not Applicable
11 Antiviral Agents Phase 2,Early Phase 1
12 Interferon-gamma Phase 2
13 interferons Phase 2
14 Antibodies Phase 2
15 Antibodies, Monoclonal Phase 2
16 Dermatologic Agents Phase 2,Not Applicable
17 Immunoglobulins Phase 2
18 Interleukin-12 Phase 2
19 Alkylating Agents Phase 2,Early Phase 1,Not Applicable
20 Antimetabolites Phase 2,Early Phase 1,Not Applicable
21 Antimetabolites, Antineoplastic Phase 2,Early Phase 1,Not Applicable
22 Immunosuppressive Agents Phase 2,Phase 1,Early Phase 1,Not Applicable
23 Nucleic Acid Synthesis Inhibitors Phase 2,Not Applicable
24 Cyclosporins Phase 2,Phase 1,Not Applicable
25 Methylprednisolone acetate Phase 2,Not Applicable
26 Methylprednisolone Hemisuccinate Phase 2,Not Applicable
27 Prednisolone acetate Phase 2,Not Applicable
28 Prednisolone hemisuccinate Phase 2,Not Applicable
29 Prednisolone phosphate Phase 2,Not Applicable
30
Abatacept Approved Phase 1 332348-12-6 10237
31
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
32
Mycophenolic acid Approved Phase 1 24280-93-1 446541
33 Antirheumatic Agents Phase 1,Not Applicable
34
Busulfan Approved, Investigational Early Phase 1,Not Applicable 55-98-1 2478
35
Everolimus Approved Early Phase 1 159351-69-6 6442177
36
Lenograstim Approved, Investigational Early Phase 1 135968-09-1
37
Miconazole Approved, Investigational, Vet_approved Early Phase 1,Not Applicable 22916-47-8 4189
38
Sirolimus Approved, Investigational Early Phase 1 53123-88-9 46835353 6436030 5284616
39
Vidarabine Approved, Investigational Early Phase 1 24356-66-9 21704 32326
40
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
41
Etoposide Approved Not Applicable 33419-42-0 36462
42
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
43
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
44
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
45 Adjuvants, Immunologic Early Phase 1
46 Anti-Bacterial Agents Early Phase 1
47 Antibiotics, Antitubercular Early Phase 1
48 Antifungal Agents Early Phase 1,Not Applicable
49 Autoantibodies
50 Antiemetics Not Applicable

Interventional clinical trials:

(show all 17)

# Name Status NCT ID Phase Drugs
1 Study of ORL-1F in Patients With Leukocyte Adhesion Deficiency Type II Completed NCT03354533 Phase 1, Phase 2 ORL-1F
2 Stem Cell Transplantation to Treat Leukocyte Adhesion Deficiency Completed NCT00031005 Phase 2
3 Interferon Gamma to Treat Leukocyte Adhesion Deficiency Type I Completed NCT00001905 Phase 2 Interferon gamma
4 Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients With Leukocyte Adhesion Deficiency Type 1 (LAD1) Who Have Inflammatory Pathology Recruiting NCT03366142 Phase 2
5 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
6 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
7 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
8 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341 Not Applicable
9 Gene Therapy for Patients With Leukocyte Adherence Deficiency (Follow-Up of Phase 1 Trial) Completed NCT00023010
10 Apheresis of Patients With Immunodeficiency Recruiting NCT01212055
11 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973
12 Donor Stem Cell Transplantation for Congenital Immunodeficiencies Recruiting NCT00426517 Early Phase 1 Fludarabine;Total Body Irradiation, Busulfan, Campath-1H, or h-ATG, Fludarabine;Sirolimus or equivalent based on response;Granulocyte Colony Stimulating Factor (G-CSF)
13 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
14 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
15 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912
16 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
17 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept

Search NIH Clinical Center for Leukocyte Adhesion Deficiency, Type I

Cochrane evidence based reviews: leukocyte-adhesion deficiency syndrome

Genetic Tests for Leukocyte Adhesion Deficiency, Type I

Genetic tests related to Leukocyte Adhesion Deficiency, Type I:

# Genetic test Affiliating Genes
1 Leukocyte Adhesion Deficiency Type 1 28 ITGB2

Anatomical Context for Leukocyte Adhesion Deficiency, Type I

MalaCards organs/tissues related to Leukocyte Adhesion Deficiency, Type I:

38
Neutrophil, Monocytes, Bone, Bone Marrow, Endothelial

Publications for Leukocyte Adhesion Deficiency, Type I

Articles related to Leukocyte Adhesion Deficiency, Type I:

(show top 50) (show all 261)
# Title Authors Year
1
Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1. ( 28328326 )
2017
2
Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: Including one novel mutation. ( 28445705 )
2017
3
Necrotizing Ulcer After BCG Vaccination in a Girl With Leukocyte-adhesion Deficiency Type 1. ( 28538512 )
2017
4
Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder. ( 28107557 )
2017
5
Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. ( 28827066 )
2017
6
Production and purification of high-titer foamy virus vector for the treatment of leukocyte adhesion deficiency. ( 27722179 )
2016
7
Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1. ( 26639818 )
2016
8
Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18. ( 27492259 )
2016
9
Leukocyte Adhesion Deficiency IV. Monocyte Integrin Activation Deficiency in Cystic Fibrosis. ( 27174474 )
2016
10
Development of a fast and economical genotyping protocol for bovine leukocyte adhesion deficiency (BLAD) in cattle. ( 27652018 )
2016
11
Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I. ( 27056660 )
2016
12
Leukocyte Adhesion Deficiency III: Report of Two Siblings. ( 28043831 )
2016
13
Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population. ( 26924654 )
2016
14
Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1. ( 26434744 )
2015
15
Subgingival microbial communities in Leukocyte Adhesion Deficiency and their relationship with local immunopathology. ( 25741691 )
2015
16
Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations. ( 25703682 )
2015
17
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. ( 26359933 )
2015
18
Correction: Subgingival Microbial Communities in Leukocyte Adhesion Deficiency and Their Relationship with Local Immunopathology. ( 25901574 )
2015
19
Loss of the Rap-1 effector RIAM results in leukocyte adhesion deficiency due to impaired I^2 integrin function in mice. ( 26337492 )
2015
20
Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1). ( 25527966 )
2015
21
Budd-Chiari Syndrome in a Child With Leukocyte Adhesion Deficiency-A Rare Association. ( 26154877 )
2015
22
Characterization of single amino acid substitutions in the I^2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1. ( 25514840 )
2015
23
Leukocyte Adhesion Deficiency-I with a Novel Intronic Mutation Presenting with Pyoderma Gangrenosum- Like Lesions. ( 25876705 )
2015
24
Role of bacteria in leukocyte adhesion deficiency-associated periodontitis. ( 26375893 )
2015
25
A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III. ( 25854317 )
2015
26
Investigation of ITGB2 Gene in 12 New Cases of Leukocyte Adhesion Deficiency-Type I Revealed Four Novel Mutations from Iran. ( 26497373 )
2015
27
Type 1 leukocyte adhesion deficiency complicated by the presence of idiopathic liver cirrhosis. ( 25443357 )
2014
28
Leukocyte Adhesion Deficiency Type III: Clinical Features and Treatment With Stem Cell Transplantation. ( 25072369 )
2014
29
Etiology of leukocyte adhesion deficiency-associated periodontitis revisited: not a raging infection but a raging inflammatory response. ( 24931458 )
2014
30
Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations). ( 24338230 )
2014
31
Defective neutrophil recruitment in leukocyte adhesion deficiency type I disease causes local IL-17-driven inflammatory bone loss. ( 24670684 )
2014
32
Unusual neonatal presentation of type I leukocyte adhesion deficiency. ( 25024979 )
2014
33
Bone loss in leukocyte adhesion deficiency reversed. ( 25080758 )
2014
34
Leukocyte Adhesion Deficiency III - When Integrins Activation Fails. ( 25239689 )
2014
35
A Novel Mutation in Leukocyte Adhesion Deficiency Type II/CDGIIc. ( 25239688 )
2014
36
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ( 24342549 )
2013
37
Incidence of bovine leukocyte adhesion deficiency, complex vertebral malformation, and deficiency of uridine-5-monophosphate synthase carriers in Brazilian Girolando cattle. ( 24065661 )
2013
38
Remission of Crohn's disease after cord blood transplantation for leukocyte adhesion deficiency type 1. ( 23334270 )
2013
39
Leukocyte adhesion deficiency type I in a mixed-breed dog. ( 23417082 )
2013
40
Lessons from rare maladies: leukocyte adhesion deficiency syndromes. ( 23207660 )
2013
41
Long-term follow-up of foamy viral vector-mediated gene therapy for canine leukocyte adhesion deficiency. ( 23531552 )
2013
42
A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle. ( 22958243 )
2012
43
Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America. ( 22965369 )
2012
44
Loss of kindlin-3 alters the threshold for NK cell activation in human leukocyte adhesion deficiency-III. ( 22983444 )
2012
45
Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): molecular characterization of the defect in an index family. ( 22139635 )
2012
46
Hematologically important mutations: leukocyte adhesion deficiency (first update). ( 22134107 )
2012
47
Novel aspects of Kindlin-3 function in humans based on a new case of leukocyte adhesion deficiency III. ( 22564402 )
2012
48
Clinical profile of leukocyte adhesion deficiency type I. ( 21719937 )
2012
49
Leukocyte adhesion deficiency: a case report and review. ( 22828768 )
2012
50
Identification of a null allele in genetic tests for bovine leukocyte adhesion deficiency in Pakistani Bos indicus A9 Bos taurus cattle. ( 22374219 )
2012

Variations for Leukocyte Adhesion Deficiency, Type I

UniProtKB/Swiss-Prot genetic disease variations for Leukocyte Adhesion Deficiency, Type I:

71 (show all 15)
# Symbol AA change Variation ID SNP ID
1 ITGB2 p.Asp128Asn VAR_003984 rs137852615
2 ITGB2 p.Leu149Pro VAR_003985 rs137852611
3 ITGB2 p.Gly169Arg VAR_003986 rs137852612
4 ITGB2 p.Pro178Leu VAR_003987 rs137852614
5 ITGB2 p.Lys196Thr VAR_003988 rs137852610
6 ITGB2 p.Gly284Ser VAR_003989 rs137852616
7 ITGB2 p.Asn351Ser VAR_003990 rs137852613
8 ITGB2 p.Arg586Trp VAR_003991 rs5030672
9 ITGB2 p.Arg593Cys VAR_003992 rs137852609
10 ITGB2 p.Ser138Pro VAR_013402 rs137852617
11 ITGB2 p.Gly273Arg VAR_013403 rs137852618
12 ITGB2 p.Asp128Tyr VAR_065661 rs137852615
13 ITGB2 p.Ala239Thr VAR_065662 rs179363873
14 ITGB2 p.Asp300Val VAR_065663 rs179363874
15 ITGB2 p.Gly716Ala VAR_065664 rs179363872

ClinVar genetic disease variations for Leukocyte Adhesion Deficiency, Type I:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGB2 NM_000211.4(ITGB2): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906411 GRCh37 Chromosome 21, 46330696: 46330696
2 ITGB2 ITGB2, IVS?AS, -12, 12-BP INS insertion Pathogenic
3 ITGB2 NM_000211.4(ITGB2): c.1052A> G (p.Asn351Ser) single nucleotide variant Pathogenic rs137852613 GRCh37 Chromosome 21, 46314917: 46314917
4 ITGB2 NM_000211.4(ITGB2): c.533C> T (p.Pro178Leu) single nucleotide variant Pathogenic rs137852614 GRCh37 Chromosome 21, 46321615: 46321615
5 ITGB2 NM_000211.4(ITGB2): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs137852615 GRCh37 Chromosome 21, 46323397: 46323397
6 ITGB2 ITGB2, IVSDS, G-A, +1 single nucleotide variant Pathogenic
7 ITGB2 NM_000211.4(ITGB2): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137852616 GRCh37 Chromosome 21, 46320282: 46320282
8 ITGB2 NM_000211.4(ITGB2): c.412T> C (p.Ser138Pro) single nucleotide variant Pathogenic rs137852617 GRCh37 Chromosome 21, 46323367: 46323367
9 ITGB2 NM_000211.4(ITGB2): c.817G> A (p.Gly273Arg) single nucleotide variant Pathogenic rs137852618 GRCh37 Chromosome 21, 46320315: 46320315
10 ITGB2 ITGB2, IVS4AS, 169-BP DEL, -37 deletion Pathogenic
11 ITGB2 NM_000211.4(ITGB2): c.382G> T (p.Asp128Tyr) single nucleotide variant Pathogenic rs137852615 GRCh37 Chromosome 21, 46323397: 46323397
12 ITGB2 NM_000211.4(ITGB2): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs179363873 GRCh37 Chromosome 21, 46321433: 46321433
13 ITGB2 NM_000211.4(ITGB2): c.1030G> T (p.Glu344Ter) single nucleotide variant Pathogenic rs483352816 GRCh37 Chromosome 21, 46314939: 46314939
14 ITGB2 NM_000211.4(ITGB2): c.1143delC (p.Tyr382Thrfs) deletion Pathogenic rs483352817 GRCh37 Chromosome 21, 46313400: 46313400
15 ITGB2 NM_000211.4(ITGB2): c.1877+2T> C single nucleotide variant Pathogenic rs483352818 GRCh37 Chromosome 21, 46309189: 46309189
16 ITGB2 NM_000211.4(ITGB2): c.1907delA (p.Lys636Argfs) deletion Pathogenic rs483352819 GRCh37 Chromosome 21, 46308781: 46308781
17 ITGB2 NM_000211.4(ITGB2): c.576dupC (p.Asn193Glnfs) duplication Pathogenic rs483352813 GRCh37 Chromosome 21, 46321572: 46321572
18 ITGB2 NM_000211.4(ITGB2): c.843delC (p.Asn282Thrfs) deletion Pathogenic rs483352815 GRCh37 Chromosome 21, 46320289: 46320289
19 ITGB2 NM_000211.4(ITGB2): c.897+1G> A single nucleotide variant Pathogenic rs201752283 GRCh37 Chromosome 21, 46320234: 46320234
20 ITGB2 NM_000211.4(ITGB2): c.897+1G> T single nucleotide variant Pathogenic rs201752283 GRCh37 Chromosome 21, 46320234: 46320234
21 ITGB2 NM_000211.4(ITGB2): c.1777C> T (p.Arg593Cys) single nucleotide variant Pathogenic rs137852609 GRCh37 Chromosome 21, 46309291: 46309291
22 ITGB2 NM_000211.4(ITGB2): c.587A> C (p.Lys196Thr) single nucleotide variant Pathogenic rs137852610 GRCh37 Chromosome 21, 46321561: 46321561
23 ITGB2 NM_000211.4(ITGB2): c.446T> C (p.Leu149Pro) single nucleotide variant Pathogenic rs137852611 GRCh37 Chromosome 21, 46323333: 46323333
24 ITGB2 NM_000211.4(ITGB2): c.505G> A (p.Gly169Arg) single nucleotide variant Pathogenic rs137852612 GRCh37 Chromosome 21, 46321643: 46321643

Expression for Leukocyte Adhesion Deficiency, Type I

Search GEO for disease gene expression data for Leukocyte Adhesion Deficiency, Type I.

Pathways for Leukocyte Adhesion Deficiency, Type I

Pathways related to Leukocyte Adhesion Deficiency, Type I according to KEGG:

36
# Name Kegg Source Accession
1 Leukocyte transendothelial migration hsa04670

Pathways related to Leukocyte Adhesion Deficiency, Type I according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 FERMT3 ITGAM ITGB2 RASGRP2 SELE SELL
2
Show member pathways
12.38 ITGAM ITGB2 RASGRP2 TLN1
3
Show member pathways
12.09 ITGAM ITGB2 TLN1
4
Show member pathways
11.81 ITGAM ITGB2 SELE SELL
5 11.67 FERMT3 RASGRP2 TLN1
6 11.62 ITGAM ITGB2 SELE SELL
7 11.6 IL17A ITGAM ITGB2
8 11.23 ITGB2 SELE
9 11.21 ITGAM ITGB2
10 11.18 ITGAM ITGB2 TLN1
11 11.14 ITGAM ITGB2
12
Show member pathways
11.12 ITGB2 TLN1
13 11.05 SELE SELL
14 11.01 FERMT1 FERMT3 ITGB2 TLN1

GO Terms for Leukocyte Adhesion Deficiency, Type I

Cellular components related to Leukocyte Adhesion Deficiency, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.67 ITGAM ITGB2 SELL TLN1
2 ruffle membrane GO:0032587 9.33 FERMT1 RASGRP2 TLN1
3 integrin complex GO:0008305 9.32 ITGAM ITGB2
4 plasma membrane raft GO:0044853 9.26 ITGAM ITGB2
5 external side of plasma membrane GO:0009897 9.26 IL17A ITGAM ITGB2 SELL
6 integrin alphaM-beta2 complex GO:0034688 8.62 ITGAM ITGB2
7 membrane GO:0016020 10.1 FERMT1 FERMT3 FUT6 ITGAM ITGB2 RASGRP2

Biological processes related to Leukocyte Adhesion Deficiency, Type I according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.62 ITGAM ITGB2 SELE SELL
2 platelet aggregation GO:0070527 9.52 FERMT3 TLN1
3 toll-like receptor 4 signaling pathway GO:0034142 9.51 ITGAM ITGB2
4 leukocyte tethering or rolling GO:0050901 9.49 SELE SELL
5 positive regulation of superoxide anion generation GO:0032930 9.48 ITGAM ITGB2
6 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.46 ITGAM ITGB2
7 amyloid-beta clearance GO:0097242 9.43 ITGAM ITGB2
8 leukocyte migration involved in inflammatory response GO:0002523 9.4 ITGB2 SELE
9 integrin activation GO:0033622 9.37 FERMT3 TLN1
10 leukocyte cell-cell adhesion GO:0007159 9.33 FERMT3 ITGB2 SELE
11 positive regulation of neutrophil degranulation GO:0043315 9.26 ITGAM ITGB2
12 integrin-mediated signaling pathway GO:0007229 9.26 FERMT3 ITGAM ITGB2 TLN1
13 cell adhesion GO:0007155 9.17 FERMT1 FERMT3 ITGAM ITGB2 SELE SELL

Molecular functions related to Leukocyte Adhesion Deficiency, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oligosaccharide binding GO:0070492 8.96 SELE SELL
2 complement component C3b binding GO:0001851 8.62 ITGAM ITGB2

Sources for Leukocyte Adhesion Deficiency, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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