LAD1
MCID: LKC001
MIFTS: 55

Leukocyte Adhesion Deficiency (LAD1) malady

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

Aliases & Classifications for Leukocyte Adhesion Deficiency

Aliases & Descriptions for Leukocyte Adhesion Deficiency:

Name: Leukocyte Adhesion Deficiency 54 12 56 13 14
Leukocyte Adhesion Deficiency 1 12 66 14
Congenital Leukocyte Adherence Deficiency 12 69
Leukocyte-Adhesion Deficiency Syndrome 42 69
Leukocyte Adhesion Deficiency, Type I 54 52
Leukocyte Adhesion Deficiency Type I 12 56
Lad1 12 66
Lymphocyte Function-Associated Antigen 1 Immunodeficiency 12
Leukocyte Adhesion Deficiency Syndrome 52
Leukocyte Adhesion Deficiency Type 1 69
Lfa1 Immunodeficiency 12
Lad-I 56
Lad 56

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
leukocyte adhesion deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 116920
Disease Ontology 12 DOID:0110910 DOID:6612
ICD10 33 D84.8
MeSH 42 D018370
NCIt 47 C27874
SNOMED-CT 64 77358003
MESH via Orphanet 43 D018370 C535887
ICD10 via Orphanet 34 D84.8
UMLS via Orphanet 70 C0242597 C0398738
UMLS 69 C0242597

Summaries for Leukocyte Adhesion Deficiency

OMIM : 54 Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a... (116920) more...

MalaCards based summary : Leukocyte Adhesion Deficiency, also known as leukocyte adhesion deficiency 1, is related to leukocyte adhesion deficiency, type iii and congenital disorder of glycosylation, type iic, and has symptoms including leukocytosis, gingivitis and periodontitis. An important gene associated with Leukocyte Adhesion Deficiency is ITGB2 (Integrin Subunit Beta 2), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Ras signaling pathway. 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 : 66 Leukocyte adhesion deficiency 1: LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions.

Disease Ontology : 12 A leukocyte adhesion deficiency that has material basis in mutation of the ITGB2 gene on chromosome 21q22.3.

Wikipedia : 71 Leukocyte adhesion deficiency (LAD), is a rare autosomal recessive disorder characterized by... more...

Related Diseases for Leukocyte Adhesion Deficiency

Diseases related to Leukocyte Adhesion Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
id Related Disease Score Top Affiliating Genes
1 leukocyte adhesion deficiency, type iii 12.7
2 congenital disorder of glycosylation, type iic 11.8
3 hypopyon ulcer 10.2 ITGB2 SELE
4 ceroid lipofuscinosis, neuronal, 2 10.2 RASGRP2 SELP
5 grix blankenship peterson syndrome 10.1 ITGAM ITGB2
6 urethral intrinsic sphincter deficiency 10.1 ITGB2 SELE
7 parasitic ichthyosporea infectious disease 10.1 ITGAL ITGAM
8 spinocerebellar ataxia 20 10.1 FERMT3 ITGB2 RASGRP2
9 esotropia 10.1 ITGB2 SELE
10 perrault syndrome 10.1 ITGAM SELP
11 craniosynostosis 3 10.1 SELE SELP
12 craniopharyngioma 10.0 ITGAM SELE
13 exudative vitreoretinopathy 6 10.0 GMDS SLC35C1
14 radial hypoplasia, triphalangeal thumbs and hypospadias 10.0 ITGAL ITGB2 SELE
15 periodontitis 10.0
16 active peptic ulcer disease 10.0 FCGR3B ITGAM
17 major depressive disorder and accelerated response to antidepressant drug treatment 10.0 ITGAM ITGB2 SELE
18 xerophthalmia 10.0 ITGAM SELP
19 hematopoietic stem cell transplantation 10.0
20 thyroid cancer, anaplastic 10.0 SELE SELP
21 macrodactyly of the foot 10.0 ITGAL ITGAM SELE
22 asynchronous multifocal osteogenic sarcoma 9.9 FCGR3B ITGAL
23 pyoderma 9.9
24 pyoderma gangrenosum 9.9
25 chronic granulomatous disease 9.7
26 endotheliitis 9.7
27 budd-chiari syndrome 9.6
28 cystic fibrosis 9.6
29 focal epithelial hyperplasia 9.6
30 otitis media 9.6
31 vasculitis 9.6
32 psoriasis 9.6
33 crohn's disease 9.6
34 amyloidosis 9.6
35 liver cirrhosis 9.6
36 neutropenia 9.6
37 severe congenital neutropenia 9.6
38 mastoiditis 9.6
39 osteomyelitis 9.6
40 mastitis 9.6
41 ecthyma 9.6
42 dermatitis 9.6
43 microcephalic osteodysplastic primordial dwarfism, type ii 8.5 FCGR3B FERMT3 FUT8 GMDS ITGAL ITGAM

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



Diseases related to Leukocyte Adhesion Deficiency

Symptoms & Phenotypes for Leukocyte Adhesion Deficiency

Symptoms by clinical synopsis from OMIM:

116920

Clinical features from OMIM:

116920

Human phenotypes related to Leukocyte Adhesion Deficiency:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 leukocytosis 32 HP:0001974
2 gingivitis 32 HP:0000230
3 periodontitis 32 HP:0000704
4 recurrent staphylococcal infections 32 HP:0007499
5 rectal abscess 32 HP:0005224
6 recurrent gram-negative bacterial infections 32 HP:0005420

MGI Mouse Phenotypes related to Leukocyte Adhesion Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.81 FCGR3B FERMT3 ITGAL ITGAM ITGB2 RASGRP2
2 homeostasis/metabolism MP:0005376 9.65 FCGR3B FERMT3 GMDS ITGAL ITGAM ITGB2
3 immune system MP:0005387 9.28 FCGR3B FERMT3 ITGAL ITGAM ITGB2 RASGRP2

Drugs & Therapeutics for Leukocyte Adhesion Deficiency

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

(show top 50) (show all 76)
id 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
Acetaminophen Approved Phase 2 103-90-2 1983
4
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
5
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
6
Hydroxyurea Approved Phase 2 127-07-1 3657
7
Melphalan Approved Phase 2 148-82-3 4053 460612
8
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
9
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
10
Promethazine Approved Phase 2 60-87-7 4927
11
Thiotepa Approved Phase 2 52-24-4 5453
12
Vidarabine Approved Phase 2,Early Phase 1 24356-66-9 32326 21704
13
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
14
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
15 Anti-Infective Agents Phase 2,Early Phase 1
16 Antiviral Agents Phase 2,Early Phase 1
17 Interferon-gamma Phase 2
18 interferons Phase 2
19 Alkylating Agents Phase 2,Early Phase 1
20 Anti-Bacterial Agents Phase 2,Early Phase 1
21 Antibiotics, Antitubercular Phase 2,Early Phase 1
22 Antimetabolites Phase 2,Early Phase 1
23 Antimetabolites, Antineoplastic Phase 2,Early Phase 1
24 Antineoplastic Agents, Alkylating Phase 2,Early Phase 1
25 Epinephryl borate Phase 2
26 Immunosuppressive Agents Phase 2,Phase 1,Early Phase 1
27 Methylprednisolone acetate Phase 2
28 Methylprednisolone Hemisuccinate Phase 2
29 Nucleic Acid Synthesis Inhibitors Phase 2
30 Prednisolone acetate Phase 2
31 Prednisolone hemisuccinate Phase 2
32 Prednisolone phosphate Phase 2
33 Racepinephrine Phase 2
34
Abatacept Approved Phase 1 332348-12-6 10237
35
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
36
Mycophenolic acid Approved Phase 1 24280-93-1 446541
37 Antirheumatic Agents Phase 1
38
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
39
Everolimus Approved Early Phase 1 159351-69-6 6442177
40
Lenograstim Approved Early Phase 1 135968-09-1
41
Miconazole Approved, Investigational, Vet_approved Early Phase 1 22916-47-8 4189
42
Sirolimus Approved, Investigational Early Phase 1 53123-88-9 5284616 6436030 46835353
43
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
44
Etoposide Approved 33419-42-0 36462
45
Methotrexate Approved 1959-05-2, 59-05-2 126941
46
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
47
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
48 Adjuvants, Immunologic Early Phase 1
49 Antifungal Agents Early Phase 1
50 Antibodies

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 Interferon Gamma to Treat Leukocyte Adhesion Deficiency Type I Completed NCT00001905 Phase 2
2 Stem Cell Transplantation to Treat Leukocyte Adhesion Deficiency Completed NCT00031005 Phase 2
3 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
4 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
5 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
6 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
7 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
8 Gene Therapy for Patients With Leukocyte Adherence Deficiency (Follow-Up of Phase 1 Trial) Completed NCT00023010
9 Apheresis of Patients With Immunodeficiency Recruiting NCT01212055
10 Donor Stem Cell Transplantation for Congenital Immunodeficiencies Recruiting NCT00426517 Early Phase 1
11 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
12 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
13 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973
14 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054
15 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

Search NIH Clinical Center for Leukocyte Adhesion Deficiency

Cochrane evidence based reviews: leukocyte-adhesion deficiency syndrome

Genetic Tests for Leukocyte Adhesion Deficiency

Anatomical Context for Leukocyte Adhesion Deficiency

MalaCards organs/tissues related to Leukocyte Adhesion Deficiency:

39
Neutrophil, Monocytes, Bone, Bone Marrow, Testes, Skin, Whole Blood

Publications for Leukocyte Adhesion Deficiency

Articles related to Leukocyte Adhesion Deficiency:

(show top 50) (show all 256)
id Title Authors Year
1
Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18. ( 27492259 )
2016
2
Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1. ( 26639818 )
2016
3
Leukocyte Adhesion Deficiency IV. Monocyte Integrin Activation Deficiency in Cystic Fibrosis. ( 27174474 )
2016
4
Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population. ( 26924654 )
2016
5
Development of a fast and economical genotyping protocol for bovine leukocyte adhesion deficiency (BLAD) in cattle. ( 27652018 )
2016
6
Leukocyte Adhesion Deficiency III: Report of Two Siblings. ( 28043831 )
2016
7
Production and purification of high-titer foamy virus vector for the treatment of leukocyte adhesion deficiency. ( 27722179 )
2016
8
Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I. ( 27056660 )
2016
9
Correction: Subgingival Microbial Communities in Leukocyte Adhesion Deficiency and Their Relationship with Local Immunopathology. ( 25901574 )
2015
10
Leukocyte Adhesion Deficiency-I with a Novel Intronic Mutation Presenting with Pyoderma Gangrenosum- Like Lesions. ( 25876705 )
2015
11
Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1. ( 26434744 )
2015
12
Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations. ( 25703682 )
2015
13
Budd-Chiari Syndrome in a Child With Leukocyte Adhesion Deficiency-A Rare Association. ( 26154877 )
2015
14
Characterization of single amino acid substitutions in the I^2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1. ( 25514840 )
2015
15
Investigation of ITGB2 Gene in 12 New Cases of Leukocyte Adhesion Deficiency-Type I Revealed Four Novel Mutations from Iran. ( 26497373 )
2015
16
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. ( 26359933 )
2015
17
Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1). ( 25527966 )
2015
18
Subgingival microbial communities in Leukocyte Adhesion Deficiency and their relationship with local immunopathology. ( 25741691 )
2015
19
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
20
Loss of the Rap-1 effector RIAM results in leukocyte adhesion deficiency due to impaired I^2 integrin function in mice. ( 26337492 )
2015
21
Role of bacteria in leukocyte adhesion deficiency-associated periodontitis. ( 26375893 )
2015
22
Leukocyte Adhesion Deficiency Type III: Clinical Features and Treatment With Stem Cell Transplantation. ( 25072369 )
2014
23
Type 1 leukocyte adhesion deficiency complicated by the presence of idiopathic liver cirrhosis. ( 25443357 )
2014
24
Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations). ( 24338230 )
2014
25
A Novel Mutation in Leukocyte Adhesion Deficiency Type II/CDGIIc. ( 25239688 )
2014
26
Defective neutrophil recruitment in leukocyte adhesion deficiency type I disease causes local IL-17-driven inflammatory bone loss. ( 24670684 )
2014
27
Etiology of leukocyte adhesion deficiency-associated periodontitis revisited: not a raging infection but a raging inflammatory response. ( 24931458 )
2014
28
Bone loss in leukocyte adhesion deficiency reversed. ( 25080758 )
2014
29
Unusual neonatal presentation of type I leukocyte adhesion deficiency. ( 25024979 )
2014
30
Leukocyte Adhesion Deficiency III - When Integrins Activation Fails. ( 25239689 )
2014
31
Remission of Crohn's disease after cord blood transplantation for leukocyte adhesion deficiency type 1. ( 23334270 )
2013
32
Leukocyte adhesion deficiency type I in a mixed-breed dog. ( 23417082 )
2013
33
Long-term follow-up of foamy viral vector-mediated gene therapy for canine leukocyte adhesion deficiency. ( 23531552 )
2013
34
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ( 24342549 )
2013
35
Incidence of bovine leukocyte adhesion deficiency, complex vertebral malformation, and deficiency of uridine-5-monophosphate synthase carriers in Brazilian Girolando cattle. ( 24065661 )
2013
36
Lessons from rare maladies: leukocyte adhesion deficiency syndromes. ( 23207660 )
2013
37
Novel aspects of Kindlin-3 function in humans based on a new case of leukocyte adhesion deficiency III. ( 22564402 )
2012
38
A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle. ( 22958243 )
2012
39
Loss of kindlin-3 alters the threshold for NK cell activation in human leukocyte adhesion deficiency-III. ( 22983444 )
2012
40
Leukocyte adhesion deficiency: a case report and review. ( 22828768 )
2012
41
Hematologically important mutations: leukocyte adhesion deficiency (first update). ( 22134107 )
2012
42
Clinical profile of leukocyte adhesion deficiency type I. ( 21719937 )
2012
43
Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): molecular characterization of the defect in an index family. ( 22139635 )
2012
44
Identification of a null allele in genetic tests for bovine leukocyte adhesion deficiency in Pakistani Bos indicus A9 Bos taurus cattle. ( 22374219 )
2012
45
Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America. ( 22965369 )
2012
46
Pyoderma gangrenosum-like lesions in leukocyte adhesion deficiency I treated with intravenous immunoglobulin. ( 21366684 )
2011
47
Delayed wound healing in leukocyte adhesion deficiency type 1. ( 20843524 )
2011
48
Successful allogeneic stem cell transplantation with a reduced-intensity conditioning in a leukocyte adhesion deficiency type I patient. ( 19912557 )
2011
49
A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion. ( 21441448 )
2011
50
Gene therapy of canine leukocyte adhesion deficiency using lentiviral vectors with human CD11b and CD18 promoters driving canine CD18 expression. ( 20859258 )
2011

Variations for Leukocyte Adhesion Deficiency

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

66 (show all 15)
id 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:

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

Expression for Leukocyte Adhesion Deficiency

Search GEO for disease gene expression data for Leukocyte Adhesion Deficiency.

Pathways for Leukocyte Adhesion Deficiency

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

(show all 22)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 FERMT3 ITGAL ITGAM ITGB2 RASGRP2 SELE
2
Show member pathways
12.45 ITGAL ITGAM ITGB2 RASGRP2
3
Show member pathways
12.18 ITGAL ITGAM ITGB2
4
Show member pathways
12.02 FCGR3B ITGAM ITGB2
5 12 FCGR3B ITGAM ITGB2
6
Show member pathways
11.96 ITGAL ITGAM ITGB2
7 11.91 FCGR3B ITGAM ITGB2
8
Show member pathways
11.91 ITGAL ITGAM ITGB2 SELE SELP
9
Show member pathways
11.89 ITGAL ITGAM ITGB2
10 11.83 ITGAL ITGAM ITGB2
11 11.7 ITGAL ITGAM ITGB2
12 11.55 FCGR3B ITGAL ITGAM ITGB2
13 11.52 ITGAL ITGAM ITGB2 SELE SELP
14 11.48 FCGR3B ITGAL ITGB2
15 11.47 ITGAL ITGAM ITGB2 RASGRP2
16 11.29 ITGAM ITGB2
17 11.29 ITGAM ITGB2 SELP
18
Show member pathways
11.23 ITGAL ITGB2
19 11.22 ITGAL ITGAM ITGB2
20 11.15 ITGAL ITGB2 SELE SELP
21 11.12 ITGAL ITGB2
22 10.77 FCGR3B ITGAL ITGAM ITGB2 SELP

GO Terms for Leukocyte Adhesion Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 FCGR3B FERMT3 FUT8 GMDS ITGAL ITGAM
2 specific granule membrane GO:0035579 9.33 ITGAL ITGAM ITGB2
3 integrin alphaL-beta2 complex GO:0034687 8.96 ITGAL ITGB2
4 integrin complex GO:0008305 8.8 ITGAL ITGAM ITGB2
5 membrane GO:0016020 10.02 FCGR3B FERMT3 FUT8 ITGAL ITGAM ITGB2

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.8 FCGR3B ITGAL ITGAM ITGB2
2 cell adhesion GO:0007155 9.73 FERMT3 ITGAL ITGAM ITGB2 SELE SELP
3 inflammatory response GO:0006954 9.71 ITGAL ITGB2 SELE SELP
4 extracellular matrix organization GO:0030198 9.69 ITGAL ITGAM ITGB2
5 leukocyte migration GO:0050900 9.55 ITGAL ITGAM ITGB2 SELE SELP
6 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.5 ITGAL SELE SELP
7 receptor clustering GO:0043113 9.48 ITGAL ITGB2
8 toll-like receptor 4 signaling pathway GO:0034142 9.46 ITGAM ITGB2
9 leukocyte tethering or rolling GO:0050901 9.43 SELE SELP
10 leukocyte migration involved in inflammatory response GO:0002523 9.37 ITGB2 SELE
11 integrin-mediated signaling pathway GO:0007229 9.35 FERMT3 FUT8 ITGAL ITGAM ITGB2
12 leukocyte cell-cell adhesion GO:0007159 9.02 FERMT3 ITGAL ITGB2 SELE SELP

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

id Name GO ID Score Top Affiliating Genes
1 heat shock protein binding GO:0031072 9.32 ITGAM ITGB2
2 sialic acid binding GO:0033691 9.26 SELE SELP
3 oligosaccharide binding GO:0070492 9.16 SELE SELP
4 glycoprotein binding GO:0001948 9.13 ITGAM ITGB2 SELP
5 ICAM-3 receptor activity GO:0030369 8.62 ITGAL ITGB2

Sources for Leukocyte Adhesion Deficiency

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