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LAD
MCID: LKC009
MIFTS: 60

Leukocyte Adhesion Deficiency, Type I (LAD)

Categories: Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Leukocyte Adhesion Deficiency, Type I

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MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type I:

Name: Leukocyte Adhesion Deficiency, Type I 58 56
Leukocyte Adhesion Deficiency 58 12 60 38 30 13 6 15
Leukocyte-Adhesion Deficiency Syndrome 45 17 74
Congenital Leukocyte Adherence Deficiency 12 74
Leukocyte Adhesion Deficiency Syndrome 77 56
Lad1 58 76
Lad 58 60
Lymphocyte Function-Associated Antigen 1 Immunodeficiency 58
Leukocyte Adhesion Deficiency Type I 60
Leukocyte Adhesion Deficiency Type 1 74
Leukocyte Adhesion Deficiency 1 76
Lfa1 Immunodeficiency 58
Lad-I 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
leukocyte adhesion deficiency, type i:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare eye diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:6612
OMIM 58 116920
KEGG 38 H00099
MeSH 45 D018370
MESH via Orphanet 46 C535887 D018370
ICD10 via Orphanet 35 D84.8
UMLS via Orphanet 75 C0242597 C0398738
Sources

Summaries for Leukocyte Adhesion Deficiency, Type I

About this section
OMIM : 58 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 congenital disorder of glycosylation, type iic. 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 Ustekinumab and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone and monocytes, and related phenotypes are skin ulcer and leukocytosis

Disease Ontology : 12 A leukocyte disease that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system.

Genetics Home Reference : 26 Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from birth, people with leukocyte adhesion deficiency type 1 develop serious bacterial and fungal infections.

UniProtKB/Swiss-Prot : 76 Leukocyte adhesion deficiency 1: LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions.

Wikipedia : 77 Leukocyte adhesion deficiency (LAD), is a rare autosomal recessive disorder characterized by... more...

Sources

Related Diseases for Leukocyte Adhesion Deficiency, Type I

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 leukocyte adhesion deficiency, type iii 32.0 FERMT3 ITGB2 RASGRP2 SELP
2 congenital disorder of glycosylation, type iic 11.4
3 bullous pemphigoid 11.2
4 linear iga disease 11.2
5 epidermolysis bullosa, junctional, non-herlitz type 11.1
6 pyloric atresia 11.1
7 maturity-onset diabetes of the young, type 13 11.1
8 type 1 diabetes mellitus 5 11.1
9 type 1 diabetes mellitus 18 11.1
10 glucose metabolism disease 11.1
11 mooren's ulcer 10.3 ITGB2 SELE
12 scleritis 10.3 ITGB2 SELE
13 boutonneuse fever 10.3 SELE SELL
14 retinitis pigmentosa 60 10.3 SELE SELL
15 plummer's disease 10.3 SELE SELL
16 hematopoietic stem cell transplantation 10.2
17 leukostasis 10.2 SELE SELL
18 pustulosis palmaris et plantaris 10.2 ITGB2 SELE
19 lymphocytic vasculitis 10.2 ITGAM SELE
20 venous insufficiency 10.2 SELL SELP
21 polyarteritis nodosa 10.2 SELE SELL
22 aspiration pneumonia 10.1 IL17A ITGAM
23 exposure keratitis 10.1 SELE SELP
24 thrombocytopenia due to platelet alloimmunization 10.1 IL17A SELP
25 cohen syndrome 10.1 ITGAM SELL
26 pyoderma 10.1
27 periodontitis 10.1
28 pyoderma gangrenosum 10.1
29 periodontosis 10.1 ITGAM SELL
30 autoimmune optic neuritis 10.1 IL17A ITGAM
31 grange syndrome 10.1 SELE SELP
32 behcet syndrome 10.1 IL17A SELE SELL
33 congenital disorder of glycosylation, type in 10.0
34 bronchopulmonary dysplasia 10.0 ITGAM SELL
35 granulocytopenia 10.0 ITGAM ITGB2 SELL
36 griscelli syndrome, type 1 10.0 SELE SELP
37 bacterial infectious disease 10.0 IL17A ITGAM SELL
38 stormorken syndrome 10.0 RASGRP2 SELP
39 thrombotic thrombocytopenic purpura 10.0 SELE SELP
40 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
41 psoriasis 9.9
42 periodontitis, aggressive, 1 9.9
43 chronic granulomatous disease 9.9
44 dermatitis 9.9
45 neutrophil migration 9.9 ITGAM ITGB2
46 kindler syndrome 9.9 FERMT1 FERMT3
47 chronic venous insufficiency 9.9 ITGAM SELL SELP
48 proteasome-associated autoinflammatory syndrome 1 9.8 IL17A SELE SELL SELP
49 hirschsprung disease 1 9.8
50 buschke-ollendorff syndrome 9.8

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



Diseases related to Leukocyte Adhesion Deficiency, Type I
Sources

Symptoms & Phenotypes for Leukocyte Adhesion Deficiency, Type I

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Human phenotypes related to Leukocyte Adhesion Deficiency, Type I:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 skin ulcer 33 very rare (1%) HP:0200042
2 leukocytosis 33 very rare (1%) HP:0001974
3 osteomyelitis 33 very rare (1%) HP:0002754
4 recurrent bacterial infections 33 very rare (1%) HP:0002718
5 gingivitis 33 HP:0000230
6 periodontitis 33 HP:0000704
7 poor wound healing 33 HP:0001058
8 rectal abscess 33 HP:0005224
9 recurrent staphylococcal infections 33 HP:0007499
10 recurrent gram-negative bacterial infections 33 HP:0005420

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 FERMT3 IL17A ITGAM ITGB2 RASGRP2 SELE
2 homeostasis/metabolism MP:0005376 10.06 FERMT1 FERMT3 IL17A ITGAM ITGB2 RASGRP2
3 cellular MP:0005384 10.01 FERMT1 ITGAM ITGB2 SELE SELL SELP
4 immune system MP:0005387 10 FERMT1 FERMT3 IL17A ITGAM ITGB2 RASGRP2
5 integument MP:0010771 9.7 FERMT1 FERMT3 ITGB2 SELE SELL SELP
6 mortality/aging MP:0010768 9.56 FERMT1 FERMT3 IL17A ITGB2 SELE SELP
7 respiratory system MP:0005388 9.02 IL17A SELE SELL SELP SLC35C1
Sources

Drugs & Therapeutics for Leukocyte Adhesion Deficiency, Type I

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

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ustekinumab Approved, Investigational Phase 2 815610-63-0
2
alemtuzumab Approved, Investigational Phase 2,Early Phase 1 216503-57-0
3
Fludarabine Approved Phase 2,Early Phase 1 75607-67-9, 21679-14-1 30751
4
Prednisone Approved, Vet_approved Phase 2,Not Applicable 53-03-2 5865
5
Melphalan Approved Phase 2 148-82-3 460612 4053
6
Prednisolone phosphate Approved, Vet_approved Phase 2,Not Applicable 302-25-0
7
Prednisolone Approved, Vet_approved Phase 2,Not Applicable 50-24-8 5755
8
Methylprednisolone Approved, Vet_approved Phase 2,Not Applicable 83-43-2 6741
9
Methylprednisolone hemisuccinate Approved Phase 2,Not Applicable 2921-57-5
10
Hydroxyurea Approved Phase 2 127-07-1 3657
11
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
12
Prednisolone hemisuccinate Experimental Phase 2,Not Applicable 2920-86-7
13 Interleukin-12 Phase 2
14 Immunologic Factors Phase 2,Phase 1,Early Phase 1,Not Applicable
15 Antibodies Phase 2
16 Dermatologic Agents Phase 2,Not Applicable
17 Antibodies, Monoclonal Phase 2
18 Immunoglobulins Phase 2
19 Interferon-gamma Phase 2
20 Anti-Infective Agents Phase 2,Early Phase 1,Not Applicable
21 interferons Phase 2
22 Antiviral Agents Phase 2,Early Phase 1
23 Methylprednisolone Acetate Phase 2,Not Applicable
24 Cyclosporins Phase 2,Phase 1,Not Applicable
25 Prednisolone acetate Phase 2,Not Applicable
26 Immunosuppressive Agents Phase 2,Phase 1,Early Phase 1,Not Applicable
27 Antineoplastic Agents, Alkylating Phase 2,Early Phase 1,Not Applicable
28 Antineoplastic Agents, Immunological Phase 2,Early Phase 1
29 Nucleic Acid Synthesis Inhibitors Phase 2,Not Applicable
30 Antimetabolites, Antineoplastic Phase 2,Early Phase 1,Not Applicable
31 Antimetabolites Phase 2,Early Phase 1,Not Applicable
32 Alkylating Agents Phase 2,Early Phase 1,Not Applicable
33
Abatacept Approved Phase 1 332348-12-6 10237
34
Mycophenolic acid Approved Phase 1 24280-93-1 446541
35 Antirheumatic Agents Phase 1,Not Applicable
36
Lenograstim Approved, Investigational Early Phase 1 135968-09-1
37
Sargramostim Approved, Investigational Early Phase 1 123774-72-1, 83869-56-1
38
Vidarabine Approved, Investigational Early Phase 1 24356-66-9 21704 32326
39
Miconazole Approved, Investigational, Vet_approved Early Phase 1,Not Applicable 22916-47-8 4189
40
Busulfan Approved, Investigational Early Phase 1,Not Applicable 55-98-1 2478
41
Sirolimus Approved, Investigational Early Phase 1 53123-88-9 46835353 5284616 6436030
42
Everolimus Approved Early Phase 1 159351-69-6 70789204 6442177
43
Etoposide Approved Not Applicable 33419-42-0 36462
44
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
45
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
46
leucovorin Approved Not Applicable 58-05-9 143 6006
47
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
48 Yellow Dock
49 Adjuvants, Immunologic Early Phase 1
50 Antifungal Agents Early Phase 1,Not Applicable

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients With Leukocyte Adhesion Deficiency Type 1 (LAD1) Who Have Inflammatory Pathology Recruiting NCT03366142 Phase 2
2 A Clinical Trial to Evaluate the Safety and Efficacy of RP-L201 in Subjects With Leukocyte Adhesion Deficiency-I Recruiting NCT03812263 Phase 1, Phase 2
3 Study of ORL-1F (L-fucose) in Patients With Leukocyte Adhesion Deficiency Type II Completed NCT03354533 Phase 1, Phase 2 L-fucose
4 Stem Cell Transplantation to Treat Leukocyte Adhesion Deficiency Completed NCT00031005 Phase 2
5 Interferon Gamma to Treat Leukocyte Adhesion Deficiency Type I Completed NCT00001905 Phase 2 Interferon gamma
6 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
7 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
8 A Gene Therapy Trial to Evaluate the Safety and Efficacy of RP-L201 in Subjects With Leukocyte Adhesion Deficiency-I Recruiting NCT03825783 Phase 1
9 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
10 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
11 Apheresis of Patients With Immunodeficiency Recruiting NCT01212055
12 Gene Therapy for Patients With Leukocyte Adherence Deficiency (Follow-Up of Phase 1 Trial) Completed NCT00023010
13 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973
14 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)
15 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
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
18 Detection and Characterization of Infections and Infection Susceptibility Enrolling by invitation NCT00404560
19 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912

Search NIH Clinical Center for Leukocyte Adhesion Deficiency, Type I

Cochrane evidence based reviews: leukocyte-adhesion deficiency syndrome

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Genetic Tests for Leukocyte Adhesion Deficiency, Type I

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Genetic tests related to Leukocyte Adhesion Deficiency, Type I:

# Genetic test Affiliating Genes
1 Leukocyte Adhesion Deficiency 30
Sources

Anatomical Context for Leukocyte Adhesion Deficiency, Type I

About this section

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

42
Neutrophil, Bone, Monocytes, Bone Marrow, Skin, Endothelial, Eye
Sources

Publications for Leukocyte Adhesion Deficiency, Type I

About this section

Articles related to Leukocyte Adhesion Deficiency, Type I:

(show top 50) (show all 282)
# Title Authors Year
1
Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations. ( 30919141 )
2019
2
Genetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1. ( 29750748 )
2019
3
Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency. ( 29324573 )
2018
4
Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation. ( 29472353 )
2018
5
Palatal Ulcer in Leukocyte Adhesion Deficiency: an Unusual Occurrence. ( 30167939 )
2018
6
Leukocyte Adhesion Deficiency Type 1 with Low Expression of CD 11b. ( 29866230 )
2018
7
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications. ( 29548898 )
2018
8
Leukocyte adhesion deficiency-I: A comprehensive review of all published cases. ( 29371071 )
2018
9
Necrotizing Ulcer After BCG Vaccination in a Girl With Leukocyte-adhesion Deficiency Type 1. ( 28538512 )
2018
10
Pyoderma Gangrenosum-like Wounds in Leukocyte Adhesion Deficiency: Case Report and Review of Literature. ( 30254829 )
2018
11
Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. ( 28827066 )
2017
12
Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: Including one novel mutation. ( 28445705 )
2017
13
Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1. ( 28328326 )
2017
14
Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder. ( 28107557 )
2017
15
Leukocyte Adhesion Deficiency III: Report of Two Siblings. ( 28043831 )
2017
16
Role of bacteria in leukocyte adhesion deficiency-associated periodontitis. ( 26375893 )
2016
17
Development of a fast and economical genotyping protocol for bovine leukocyte adhesion deficiency (BLAD) in cattle. ( 27652018 )
2016
18
Leukocyte Adhesion Deficiency IV. Monocyte Integrin Activation Deficiency in Cystic Fibrosis. ( 27174474 )
2016
19
Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I. ( 27056660 )
2016
20
Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population. ( 26924654 )
2016
21
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. ( 26359933 )
2016
22
Production and purification of high-titer foamy virus vector for the treatment of leukocyte adhesion deficiency. ( 27722179 )
2016
23
Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18. ( 27492259 )
2016
24
Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1. ( 26639818 )
2016
25
Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1. ( 26434744 )
2016
26
Budd-Chiari Syndrome in a Child With Leukocyte Adhesion Deficiency-A Rare Association. ( 26154877 )
2015
27
Leukocyte adhesion deficiency-I with a novel intronic mutation presenting with pyoderma gangrenosum- like lesions. ( 25876705 )
2015
28
Investigation of ITGB2 gene in 12 new cases of leukocyte adhesion deficiency-type I revealed four novel mutations from Iran. ( 26497373 )
2015
29
Loss of the Rap1 effector RIAM results in leukocyte adhesion deficiency due to impaired β2 integrin function in mice. ( 26337492 )
2015
30
Correction: subgingival microbial communities in leukocyte adhesion deficiency and their relationship with local immunopathology. ( 25901574 )
2015
31
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
32
Subgingival microbial communities in Leukocyte Adhesion Deficiency and their relationship with local immunopathology. ( 25741691 )
2015
33
Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations. ( 25703682 )
2015
34
Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1. ( 25514840 )
2015
35
Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. ( 25072369 )
2015
36
Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1). ( 25527966 )
2015
37
Type 1 leukocyte adhesion deficiency complicated by the presence of idiopathic liver cirrhosis. ( 25443357 )
2014
38
Leukocyte adhesion deficiency III - when integrins activation fails. ( 25239689 )
2014
39
A novel mutation in leukocyte adhesion deficiency type II/CDGIIc. ( 25239688 )
2014
40
Bone loss in leukocyte adhesion deficiency reversed. ( 25080758 )
2014
41
Unusual neonatal presentation of type I leukocyte adhesion deficiency. ( 25024979 )
2014
42
Etiology of leukocyte adhesion deficiency-associated periodontitis revisited: not a raging infection but a raging inflammatory response. ( 24931458 )
2014
43
Defective neutrophil recruitment in leukocyte adhesion deficiency type I disease causes local IL-17-driven inflammatory bone loss. ( 24670684 )
2014
44
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ( 24342549 )
2014
45
Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations). ( 24338230 )
2014
46
Incidence of bovine leukocyte adhesion deficiency, complex vertebral malformation, and deficiency of uridine-5-monophosphate synthase carriers in Brazilian Girolando cattle. ( 24065661 )
2013
47
Long-term follow-up of foamy viral vector-mediated gene therapy for canine leukocyte adhesion deficiency. ( 23531552 )
2013
48
Leukocyte adhesion deficiency type I in a mixed-breed dog. ( 23417082 )
2013
49
Lessons from rare maladies: leukocyte adhesion deficiency syndromes. ( 23207660 )
2013
50
Remission of Crohn's disease after cord blood transplantation for leukocyte adhesion deficiency type 1. ( 23334270 )
2013
Sources

Variations for Leukocyte Adhesion Deficiency, Type I

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

76 (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 top 50) (show all 280)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGB2 NM_000211.4(ITGB2): c.587A> C (p.Lys196Thr) single nucleotide variant Pathogenic rs137852610 GRCh37 Chromosome 21, 46321561: 46321561
2 ITGB2 NM_000211.4(ITGB2): c.587A> C (p.Lys196Thr) single nucleotide variant Pathogenic rs137852610 GRCh38 Chromosome 21, 44901646: 44901646
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.1777C> T (p.Arg593Cys) single nucleotide variant Pathogenic rs137852609 GRCh37 Chromosome 21, 46309291: 46309291
5 ITGB2 NM_000211.4(ITGB2): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906411 GRCh38 Chromosome 21, 44910781: 44910781
6 ITGB2 NM_000211.4(ITGB2): c.1756C> T (p.Arg586Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs5030672 GRCh37 Chromosome 21, 46309312: 46309312
7 ITGB2 NM_000211.4(ITGB2): c.1756C> T (p.Arg586Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs5030672 GRCh38 Chromosome 21, 44889397: 44889397
8 ITGB2 ITGB2, IVS?AS, -12, 12-BP INS insertion Pathogenic
9 ITGB2 NM_000211.4(ITGB2): c.1052A> G (p.Asn351Ser) single nucleotide variant Pathogenic rs137852613 GRCh37 Chromosome 21, 46314917: 46314917
10 ITGB2 NM_000211.4(ITGB2): c.1052A> G (p.Asn351Ser) single nucleotide variant Pathogenic rs137852613 GRCh38 Chromosome 21, 44895002: 44895002
11 ITGB2 NM_000211.4(ITGB2): c.533C> T (p.Pro178Leu) single nucleotide variant Pathogenic rs137852614 GRCh37 Chromosome 21, 46321615: 46321615
12 ITGB2 NM_000211.4(ITGB2): c.533C> T (p.Pro178Leu) single nucleotide variant Pathogenic rs137852614 GRCh38 Chromosome 21, 44901700: 44901700
13 ITGB2 NM_000211.4(ITGB2): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs137852615 GRCh37 Chromosome 21, 46323397: 46323397
14 ITGB2 NM_000211.4(ITGB2): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs137852615 GRCh38 Chromosome 21, 44903482: 44903482
15 ITGB2 NM_000211.4(ITGB2): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137852616 GRCh37 Chromosome 21, 46320282: 46320282
16 ITGB2 NM_000211.4(ITGB2): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137852616 GRCh38 Chromosome 21, 44900367: 44900367
17 ITGB2 NM_000211.4(ITGB2): c.412T> C (p.Ser138Pro) single nucleotide variant Pathogenic rs137852617 GRCh37 Chromosome 21, 46323367: 46323367
18 ITGB2 NM_000211.4(ITGB2): c.412T> C (p.Ser138Pro) single nucleotide variant Pathogenic rs137852617 GRCh38 Chromosome 21, 44903452: 44903452
19 ITGB2 NM_000211.4(ITGB2): c.817G> A (p.Gly273Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852618 GRCh37 Chromosome 21, 46320315: 46320315
20 ITGB2 NM_000211.4(ITGB2): c.817G> A (p.Gly273Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852618 GRCh38 Chromosome 21, 44900400: 44900400
21 ITGB2 ITGB2, IVS4AS, 169-BP DEL, -37 deletion Pathogenic
22 ITGB2 NM_000211.4(ITGB2): c.*403C> T single nucleotide variant Uncertain significance rs886057114 GRCh37 Chromosome 21, 46305880: 46305880
23 ITGB2 NM_000211.4(ITGB2): c.*403C> T single nucleotide variant Uncertain significance rs886057114 GRCh38 Chromosome 21, 44885965: 44885965
24 ITGB2 NM_000211.4(ITGB2): c.*167C> T single nucleotide variant Uncertain significance rs561251271 GRCh37 Chromosome 21, 46306116: 46306116
25 ITGB2 NM_000211.4(ITGB2): c.*167C> T single nucleotide variant Uncertain significance rs561251271 GRCh38 Chromosome 21, 44886201: 44886201
26 ITGB2 NM_000211.4(ITGB2): c.*145C> A single nucleotide variant Benign rs1160263 GRCh37 Chromosome 21, 46306138: 46306138
27 ITGB2 NM_000211.4(ITGB2): c.*145C> A single nucleotide variant Benign rs1160263 GRCh38 Chromosome 21, 44886223: 44886223
28 ITGB2 NM_000211.4(ITGB2): c.1464G> A (p.Arg488=) single nucleotide variant Conflicting interpretations of pathogenicity rs202051683 GRCh38 Chromosome 21, 44890171: 44890171
29 ITGB2 NM_000211.4(ITGB2): c.1464G> A (p.Arg488=) single nucleotide variant Conflicting interpretations of pathogenicity rs202051683 GRCh37 Chromosome 21, 46310086: 46310086
30 ITGB2 NM_000211.4(ITGB2): c.1413-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs375743879 GRCh38 Chromosome 21, 44890230: 44890230
31 ITGB2 NM_000211.4(ITGB2): c.1413-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs375743879 GRCh37 Chromosome 21, 46310145: 46310145
32 ITGB2 NM_000211.4(ITGB2): c.1323T> C (p.Val441=) single nucleotide variant Benign rs235326 GRCh38 Chromosome 21, 44891898: 44891898
33 ITGB2 NM_000211.4(ITGB2): c.1323T> C (p.Val441=) single nucleotide variant Benign rs235326 GRCh37 Chromosome 21, 46311813: 46311813
34 ITGB2 NM_000211.4(ITGB2): c.1026G> C (p.Val342=) single nucleotide variant Conflicting interpretations of pathogenicity rs142185460 GRCh37 Chromosome 21, 46314943: 46314943
35 ITGB2 NM_000211.4(ITGB2): c.1026G> C (p.Val342=) single nucleotide variant Conflicting interpretations of pathogenicity rs142185460 GRCh38 Chromosome 21, 44895028: 44895028
36 ITGB2 NM_000211.4(ITGB2): c.853C> T (p.Arg285Cys) single nucleotide variant Uncertain significance rs137959302 GRCh37 Chromosome 21, 46320279: 46320279
37 ITGB2 NM_000211.4(ITGB2): c.853C> T (p.Arg285Cys) single nucleotide variant Uncertain significance rs137959302 GRCh38 Chromosome 21, 44900364: 44900364
38 ITGB2 NM_000211.4(ITGB2): c.849C> T (p.Asp283=) single nucleotide variant Uncertain significance rs35013643 GRCh37 Chromosome 21, 46320283: 46320283
39 ITGB2 NM_000211.4(ITGB2): c.849C> T (p.Asp283=) single nucleotide variant Uncertain significance rs35013643 GRCh38 Chromosome 21, 44900368: 44900368
40 ITGB2 NM_000211.4(ITGB2): c.732C> T (p.Ala244=) single nucleotide variant Uncertain significance rs146557638 GRCh37 Chromosome 21, 46321416: 46321416
41 ITGB2 NM_000211.4(ITGB2): c.732C> T (p.Ala244=) single nucleotide variant Uncertain significance rs146557638 GRCh38 Chromosome 21, 44901501: 44901501
42 ITGB2 NM_000211.4(ITGB2): c.729C> T (p.Val243=) single nucleotide variant Uncertain significance rs199735877 GRCh37 Chromosome 21, 46321419: 46321419
43 ITGB2 NM_000211.4(ITGB2): c.729C> T (p.Val243=) single nucleotide variant Uncertain significance rs199735877 GRCh38 Chromosome 21, 44901504: 44901504
44 ITGB2 NM_000211.4(ITGB2): c.525C> T (p.Thr175=) single nucleotide variant Uncertain significance rs200134130 GRCh37 Chromosome 21, 46321623: 46321623
45 ITGB2 NM_000211.4(ITGB2): c.525C> T (p.Thr175=) single nucleotide variant Uncertain significance rs200134130 GRCh38 Chromosome 21, 44901708: 44901708
46 ITGB2 NM_000211.4(ITGB2): c.328+15G> A single nucleotide variant Benign rs5030668 GRCh37 Chromosome 21, 46326815: 46326815
47 ITGB2 NM_000211.4(ITGB2): c.328+15G> A single nucleotide variant Benign rs5030668 GRCh38 Chromosome 21, 44906900: 44906900
48 ITGB2 NM_000211.4(ITGB2): c.253G> A (p.Ala85Thr) single nucleotide variant Uncertain significance rs548099370 GRCh37 Chromosome 21, 46326905: 46326905
49 ITGB2 NM_000211.4(ITGB2): c.253G> A (p.Ala85Thr) single nucleotide variant Uncertain significance rs548099370 GRCh38 Chromosome 21, 44906990: 44906990
50 ITGB2 NM_000211.4(ITGB2): c.181C> T (p.Arg61Cys) single nucleotide variant Uncertain significance rs375038257 GRCh37 Chromosome 21, 46326977: 46326977
Sources

Expression for Leukocyte Adhesion Deficiency, Type I

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

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

38
# 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 17)
# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 67
Show member pathways
 12.64 FERMT3 ITGAM ITGB2 RASGRP2 SELE SELL
2
Ras signaling pathway 38
Show member pathways
 12.42 ITGAM ITGB2 RASGRP2 TLN1
3
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 38
Show member pathways
 12.1 ITGAM ITGB2 TLN1
4
Cell surface interactions at the vascular wall 67
Show member pathways
 11.91 ITGAM ITGB2 SELE SELL SELP
5
Platelet activation 38
11.73 FERMT3 RASGRP2 TLN1
6
Adhesion 4
11.71 FERMT1 FERMT3 ITGB2 TLN1
7
Interleukin-4 and 13 signaling 67
11.67 IL17A ITGAM ITGB2
8
Staphylococcus aureus infection 38
11.41 ITGAM ITGB2 SELP
9
MSP-RON Signaling 65
11.25 ITGAM ITGB2
10
Malaria 38
11.23 ITGB2 SELE SELP
11
Microglia Activation During Neuroinflammation: Steady-State Microglia 66
11.21 ITGAM ITGB2
12
Cytoskeleton remodeling_RalA regulation pathway 23
11.21 ITGAM ITGB2 TLN1
13
Immune response_Role of integrins in NK cells cytotoxicity 23
11.19 ITGAM ITGB2
14
Cell adhesion molecules (CAMs) 38
11.19 ITGAM ITGB2 SELE SELL SELP
15
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.18 ITGB2 TLN1
16
amb2 Integrin signaling 1
11.14 ITGAM ITGB2 SELP TLN1
17
Cell adhesion_Cell-matrix glycoconjugates 23
11.1 SELE SELL
Sources

GO Terms for Leukocyte Adhesion Deficiency, Type I

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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 9.71 ITGAM ITGB2 SELL TLN1
2 membrane raft GO:0045121 9.61 ITGAM ITGB2 SELE
3 integrin complex GO:0008305 9.37 ITGAM ITGB2
4 ruffle membrane GO:0032587 9.33 FERMT1 RASGRP2 TLN1
5 plasma membrane raft GO:0044853 9.26 ITGAM ITGB2
6 external side of plasma membrane GO:0009897 9.02 IL17A ITGAM ITGB2 SELL SELP
7 integrin alphaM-beta2 complex GO:0034688 8.96 ITGAM ITGB2
8 plasma membrane GO:0005886 10.06 FERMT1 ITGAM ITGB2 RASGRP2 SELE SELL
9 membrane GO:0016020 10.02 FERMT1 FERMT3 ITGAM ITGB2 RASGRP2 SELE

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.84 IL17A ITGB2 SELE SELP
2 platelet degranulation GO:0002576 9.72 FERMT3 SELP TLN1
3 leukocyte migration GO:0050900 9.65 ITGAM ITGB2 SELE SELL SELP
4 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.61 SELL SELP
5 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.61 SELE SELP
6 platelet aggregation GO:0070527 9.6 FERMT3 TLN1
7 positive regulation of neuron death GO:1901216 9.59 ITGAM ITGB2
8 positive regulation of protein targeting to membrane GO:0090314 9.58 ITGAM ITGB2
9 microglial cell activation GO:0001774 9.58 ITGAM ITGB2
10 toll-like receptor 4 signaling pathway GO:0034142 9.57 ITGAM ITGB2
11 positive regulation of superoxide anion generation GO:0032930 9.56 ITGAM ITGB2
12 amyloid-beta clearance GO:0097242 9.52 ITGAM ITGB2
13 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.51 ITGAM ITGB2
14 leukocyte tethering or rolling GO:0050901 9.5 SELE SELL SELP
15 integrin activation GO:0033622 9.49 FERMT3 TLN1
16 leukocyte migration involved in inflammatory response GO:0002523 9.48 ITGB2 SELE
17 positive regulation of microglial cell activation GO:1903980 9.46 ITGAM ITGB2
18 leukocyte cell-cell adhesion GO:0007159 9.46 FERMT3 ITGB2 SELE SELP
19 negative regulation of dopamine metabolic process GO:0045963 9.43 ITGAM ITGB2
20 positive regulation of neutrophil degranulation GO:0043315 9.4 ITGAM ITGB2
21 positive regulation of prostaglandin-E synthase activity GO:2000363 9.37 ITGAM ITGB2
22 integrin-mediated signaling pathway GO:0007229 9.35 FERMT1 FERMT3 ITGAM ITGB2 TLN1
23 cell adhesion GO:0007155 9.23 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 carbohydrate binding GO:0030246 9.54 SELE SELL SELP
2 integrin binding GO:0005178 9.5 FERMT3 ITGB2 TLN1
3 sialic acid binding GO:0033691 9.26 SELE SELP
4 glycosphingolipid binding GO:0043208 9.16 SELL SELP
5 complement component C3b binding GO:0001851 8.96 ITGAM ITGB2
6 oligosaccharide binding GO:0070492 8.8 SELE SELL SELP
Sources

Sources for Leukocyte Adhesion Deficiency, Type I

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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