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LAD
MCID: LKC009
MIFTS: 70

Leukocyte Adhesion Deficiency, Type I (LAD)

Categories: Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Skin 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 57 54
Leukocyte Adhesion Deficiency 57 12 58 36 29 13 6 15
Leukocyte Adhesion Deficiency 1 12 73 29 6 15
Leukocyte Adhesion Deficiency Type 1 20 43 39 71
Lad1 57 12 43 73
Lymphocyte Function-Associated Antigen 1 Immunodeficiency 57 12 20
Leukocyte-Adhesion Deficiency Syndrome 44 17 71
Leukocyte Adhesion Deficiency Type I 12 20 58
Lad 57 20 58
Congenital Leukocyte Adherence Deficiency 12 71
Leukocyte Adhesion Deficiency Syndrome 74 54
Lfa1 Immunodeficiency 57 12
Lad-I 20 58
Leukocyte Adhesion Molecule Deficiency Type 1 43
Leucocyte Adhesion Deficiency Type 1 43
Lfa 1 Immunodeficiency 20
Lad 1 20

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
corrected by bone marrow transplantation


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Eye diseases Blood diseases Immune diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Rare immunological diseases


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Summaries for Leukocyte Adhesion Deficiency, Type I

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99842DefinitionLeukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.EpidemiologyLAD-I affects 1 individual per million.Clinical descriptionUsually the first signs occur in infancy or early childhood. Patients present recurrent, life-threatening bacterial infections of the skin, mouth, and respiratory tract. Delayed umbilical cord separation is common. Skin infections may evolve into large ulcers. Severe periodontitis is often present later in life and leads to early tooth loss. A lack of swelling, redness, heat, or pus is observed in the area of infection.EtiologyLAD-I is caused by mutations in the ITGB2 gene (21q22.3), encoding the beta-2-integrin, CD18, which is essential for firm adhesion of leukocytes to the endothelium. Severity of the disease correlates with the degree of CD18 deficiency.Diagnostic methodsDiagnosis is based on complete blood counts revealing neutrophilic leukocytosis. Flow cytometric analyses reveal reduced CD18 expression on leukocytes. Genetic analyses of mutations in the ITGB2 gene confirm the diagnosis.Differential diagnosisDifferential diagnoses include IRAK-4 deficiency, autosomal dominant hyper IgE syndrome, chronic granulomatous disease, other primary immunodeficiencies (see these terms) and a leukemoid reaction.Antenatal diagnosisAntenatal diagnosis is possible through biochemical or molecular analysis of chorionic villus cells or amniocytes in affected families for which the mutation has been identified. Flow cytometry can be performed at 20 weeks of gestation.Genetic counselingTransmission is autosomal recessive.Management and treatmentManagement should focus on controlling infections and includes antibiotics. Hematopoietic cell transplantation represents the only cure for LAD-I, but gene therapy may be available in the future.PrognosisPrognosis depends on the severity of the disease. Without hematopoietic stem cell transplantation, death in patients with severe LAD-I occurs from infection within the first 2 years of life, whereas patients with a moderate form of the disease have abetter chance of surviving into adulthood. Survival rate after bone marrow transplantation is 75%.Visit the Orphanet disease page for more resources.

MalaCards based summary : Leukocyte Adhesion Deficiency, Type I, also known as leukocyte adhesion deficiency, is related to leukocyte adhesion deficiency, type iii and skin disease. 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 Innate Immune System. The drugs Fludarabine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, neutrophil and bone, and related phenotypes are impaired neutrophil chemotaxis and gingivitis

Disease Ontology : 12 A combined T cell and B cell immunodeficiency 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.

MedlinePlus Genetics : 43 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.One of the first signs of leukocyte adhesion deficiency type 1 is a delay in the detachment of the umbilical cord stump after birth. In newborns, the stump normally falls off within the first two weeks of life; but, in infants with leukocyte adhesion deficiency type 1, this separation usually occurs at three weeks or later. In addition, affected infants often have inflammation of the umbilical cord stump (omphalitis) due to a bacterial infection.In leukocyte adhesion deficiency type 1, bacterial and fungal infections most commonly occur on the skin and mucous membranes such as the moist lining of the nose and mouth. In childhood, people with this condition develop severe inflammation of the gums (gingivitis) and other tissue around the teeth (periodontitis), which often results in the loss of both primary and permanent teeth. These infections often spread to cover a large area. A hallmark of leukocyte adhesion deficiency type 1 is the lack of pus formation at the sites of infection. In people with this condition, wounds are slow to heal, which can lead to additional infection.Life expectancy in individuals with leukocyte adhesion deficiency type 1 is often severely shortened. Due to repeat infections, affected individuals may not survive past infancy.

OMIM® : 57 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) (Updated 05-Mar-2021)

KEGG : 36 Leukocyte adhesion deficiency (LAD) is a rare, autosomal recessive genetic disorder in which neutrophils fail to mobilize and migrate to sites of injury. At least three genetically distinct forms of this group of disorders have been described: LAD I, II, and III. Defects in the expression of beta2-integrins and fucose- containing proteins account for LAD-I and LAD-II, respectively. In LAD-III integrin expression by leukocytes is normal, but the integrins fail to generate high avidity for their cognate endothelial-cell ligands. Mutations in the KINDLIN3 (official symbol FERMT3), a gene that encodes an intracellular protein that interacts with cytoplasmic tails of beta-integrins in hematopoietic cells, is the cause of LAD-III. Dominant-negative mutations resulting in deficiency of ras-related C3 botulinum toxin substrate (Rac2), the predominant hematopoeitic-specific Rho GTPase in neutrophils also leads to leukocyte adhesion deficiency.

UniProtKB/Swiss-Prot : 73 Leukocyte adhesion deficiency 1: LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions.

Wikipedia : 74 Leukocyte adhesion deficiency (LAD), is a rare autosomal recessive disorder characterized by... more...

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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 228)
# Related Disease Score Top Affiliating Genes
1 leukocyte adhesion deficiency, type iii 32.5 TLN1 RASGRP2 ITGB2 ITGAD FERMT3 FERMT2
2 skin disease 32.0 SELL SELE ITGB2 ITGAL IL17A ICAM1
3 bacterial infectious disease 31.1 SELL ITGB2 ITGAM IL17A CCR6
4 immune deficiency disease 30.8 SELL ITGB2 ITGAM ITGAL IL17A ICAM2
5 mastitis 30.7 SELE IL17A ICAM1
6 glanzmann thrombasthenia 30.7 SELP RASGRP2 FERMT3
7 psoriasis 30.6 SELE ITGB2 ITGAL IL17A ICAM1 CCR6
8 salmonellosis 30.5 ITGAX IL17A CCR6
9 crohn's disease 30.4 ITGAX IL17A ICAM1 CCR6
10 vasculitis 30.3 SELP SELL SELE ITGB2 ITGAM IL17A
11 inflammatory bowel disease 30.0 SELP SELL SELE ITGB2 ITGAM ITGAL
12 combined immunodeficiency 29.7 TLN1 SLC35C1 SELL SELE RASGRP2 ITGB2
13 congenital disorder of glycosylation, type iic 11.2
14 cicatricial pemphigoid 11.1
15 epidermolysis bullosa acquisita 11.1
16 bullous pemphigoid 11.1
17 linear iga disease 11.1
18 epidermolysis bullosa 11.0
19 epidermolysis bullosa, junctional, non-herlitz type 10.9
20 pyloric atresia 10.9
21 junctional epidermolysis bullosa 10.9
22 autosomal recessive disease 10.5
23 benign cephalic histiocytosis 10.5 ITGAX ITGAL
24 annular erythema 10.5 ITGB2 ICAM1
25 heterophyiasis 10.5 SELE ICAM1
26 scleritis 10.5 SELE ITGB2 CCR6
27 toxicodendron dermatitis 10.5 SELL SELE ICAM1
28 autoimmune enteropathy 10.5 ITGAL IL17A ICAM1
29 actinic prurigo 10.5 SELE ITGAL ICAM1
30 bleeding disorder, platelet-type, 18 10.5 SELE RASGRP2 FERMT3
31 autoimmune glomerulonephritis 10.5 ITGB2 ICAM1 CCR6
32 plummer's disease 10.5 SELL SELE ICAM1
33 cryptococcosis 10.5 SELL IL17A CCR6
34 granulocytopenia 10.5 SELL ITGB2 ITGAM
35 histiocytosis 10.5 ITGAX IL17A CCR6
36 venous insufficiency 10.5 SELP SELL ICAM1
37 lichen disease 10.5 IL17A ICAM1 CCR6
38 lacrimal apparatus disease 10.5 IL17A ICAM1 CCR6
39 autoimmune disease of eyes, ear, nose and throat 10.5 ITGAM IL17A CCR6
40 hyper ige recurrent infection syndrome 1 10.5 IL17A DOCK8 CCR6
41 shwartzman phenomenon 10.5 SELE ITGAM ICAM1
42 silo filler's disease 10.5 ITGAX ITGAM IL17A
43 leukostasis 10.5 SELL SELE ICAM1
44 conjunctival disease 10.5 IL17A ICAM1 CCR6
45 pustulosis palmaris et plantaris 10.5 SELE ITGB2 ITGAL CCR6
46 coccidiosis 10.5 ITGAX IL17A CCR6
47 drug-induced lupus erythematosus 10.5 ITGAX ITGAM IL17A
48 erythema nodosum 10.5 SELL SELE ICAM1
49 cutaneous lupus erythematosus 10.5 SELE IL17A ICAM1
50 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.5 IL17A DOCK8 CCR6

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



Diseases related to Leukocyte Adhesion Deficiency, Type I
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Symptoms & Phenotypes for Leukocyte Adhesion Deficiency, Type I

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Human phenotypes related to Leukocyte Adhesion Deficiency, Type I:

58 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired neutrophil chemotaxis 58 31 hallmark (90%) Very frequent (99-80%) HP:0040238
2 gingivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000230
3 otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000388
4 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
5 bone marrow hypocellularity 58 31 frequent (33%) Frequent (79-30%) HP:0005528
6 pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0002090
7 peritonitis 58 31 frequent (33%) Frequent (79-30%) HP:0002586
8 leukocytosis 58 31 very rare (1%) Frequent (79-30%) HP:0001974
9 recurrent aphthous stomatitis 58 31 frequent (33%) Frequent (79-30%) HP:0011107
10 recurrent staphylococcal infections 58 31 frequent (33%) Frequent (79-30%) HP:0007499
11 chronic oral candidiasis 58 31 frequent (33%) Frequent (79-30%) HP:0009098
12 lymphocytic interstitial pneumonia 31 frequent (33%) HP:0006527
13 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
14 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
15 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
16 sinusitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000246
17 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
18 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
19 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
20 osteomyelitis 58 31 very rare (1%) Occasional (29-5%) HP:0002754
21 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
22 abnormal bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0001892
23 polycythemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001901
24 nail dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008404
25 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
26 bronchiectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002110
27 hyperinsulinemic hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000825
28 severe periodontitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000166
29 glomerulonephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000099
30 thrombocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001894
31 perianal abscess 58 31 occasional (7.5%) Occasional (29-5%) HP:0009789
32 pyoderma gangrenosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0025452
33 hemolytic-uremic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0005575
34 impaired platelet aggregation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003540
35 vaginitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030683
36 nasolacrimal sac granuloma 58 31 occasional (7.5%) Occasional (29-5%) HP:0500035
37 seizure 31 occasional (7.5%) HP:0001250
38 neonatal omphalitis 31 occasional (7.5%) HP:0032435
39 recurrent tonsillitis 31 occasional (7.5%) HP:0011110
40 bcgosis 31 occasional (7.5%) HP:0020087
41 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
42 intrauterine growth retardation 58 31 very rare (1%) Very rare (<4-1%) HP:0001511
43 coronal craniosynostosis 58 31 very rare (1%) Very rare (<4-1%) HP:0004440
44 recurrent bacterial infections 58 31 very rare (1%) Very frequent (99-80%) HP:0002718
45 acute myeloid leukemia 58 31 very rare (1%) Very rare (<4-1%) HP:0004808
46 skin ulcer 31 very rare (1%) HP:0200042
47 delayed umbilical cord separation 31 very rare (1%) HP:0032434
48 seizures 58 Occasional (29-5%)
49 abnormality of the dentition 58 Occasional (29-5%)
50 growth delay 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Mouth:
gingivitis

Prenatal Manifestations Placenta And Umbilical Cord:
delayed umbilical cord separation

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

Head And Neck Teeth:
periodontitis

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

Clinical features from OMIM®:

116920 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.19 CCR6 DOCK8 FERMT3 ICAM1 ICAM2 IL17A
2 cellular MP:0005384 10.1 DOCK8 FERMT1 FERMT2 ICAM1 ITGAL ITGAM
3 homeostasis/metabolism MP:0005376 10.03 CCR6 FERMT1 FERMT3 ICAM1 IL17A ITGAD
4 immune system MP:0005387 9.91 CCR6 DOCK8 FERMT1 FERMT3 ICAM1 ICAM2
5 integument MP:0010771 9.28 FERMT1 FERMT3 ICAM1 IL17A ITGB2 SELE
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 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
4 Anti-Infective Agents Phase 2
5 interferons Phase 2
6 Interferon-gamma Phase 2
7 Antiviral Agents Phase 2
8 Dermatologic Agents Phase 1, Phase 2
9 Immunoglobulins Phase 1, Phase 2
10 Antibodies Phase 1, Phase 2
11 Antibodies, Monoclonal Phase 1, Phase 2
12 Interleukin-12 Phase 1, Phase 2
13
Methotrexate Approved 1959-05-2, 59-05-2 126941
14
Prednisone Approved, Vet_approved 53-03-2 5865
15
Levoleucovorin Approved, Investigational 68538-85-2 149436
16 Prednisolone acetate Approved, Vet_approved 52-21-1
17
Etoposide Approved 33419-42-0 36462
18
Prednisolone Approved, Vet_approved 50-24-8 5755
19
Methylprednisolone hemisuccinate Approved 2921-57-5
20
Clotrimazole Approved, Vet_approved 23593-75-1 2812
21
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
22
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
23
Busulfan Approved, Investigational 55-98-1 2478
24
Methylprednisolone Approved, Vet_approved 83-43-2 6741
25
Prednisolone phosphate Approved, Vet_approved 302-25-0
26
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
27
Prednisolone hemisuccinate Experimental 2920-86-7
28 Immunosuppressive Agents
29 Protective Agents
30 Complement System Proteins
31 Vitamin B Complex
32 Alkylating Agents
33 Hormone Antagonists
34 Hormones
35 Anti-Inflammatory Agents
36 Folic Acid Antagonists
37 Methylprednisolone Acetate
38 Antilymphocyte Serum
39 Immunologic Factors
40 Neuroprotective Agents
41 Antimetabolites
42 Cyclosporins
43 Antirheumatic Agents
44 Vitamin B9
45 Antifungal Agents
46 Gastrointestinal Agents
47 Folate
48 Antineoplastic Agents, Hormonal
49 Etoposide phosphate
50 Calcineurin Inhibitors

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Interferon Gamma Administration in Leukocyte Adhesion Deficiency Type I Completed NCT00001905 Phase 2 Interferon gamma
2 Treatment of Leukocyte Adhesion Deficiency With Allogeneic Stem Cell Transplantation Completed NCT00031005 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 Use of Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients With Leukocyte Adhesion Deficiency Type 1 (LAD1) Who Have Inflammatory Pathology Recruiting NCT03366142 Phase 1, Phase 2 Ustekinumab
5 Gene Therapy for Leukocyte Adhesion Deficiency-I (LAD-I): A Phase I/II Clinical Trial to Evaluate the Safety and Efficacy of the Infusion of Autologous Hematopoietic Stem Cells Transduced With a Lentiviral Vector Encoding the ITGB2 Gene Recruiting NCT03812263 Phase 1, Phase 2
6 Gene Therapy for Leukocyte Adhesion Deficiency-I (LAD-I): A Phase I Clinical Trial to Evaluate the Safety and Efficacy of the Infusion of Autologous Hematopoietic Stem Cells Transduced With a Lentiviral Vector Encoding the ITGB2 Gene. Recruiting NCT03825783 Phase 1
7 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
8 Follow-Up of a Phase-I Gene Therapy Trial of Patients With Leukocyte Adherence Deficiency Completed NCT00023010
9 Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency Recruiting NCT01212055
10 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
11 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept

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 1 29 ITGB2
2 Leukocyte Adhesion Deficiency 29
Sources

Anatomical Context for Leukocyte Adhesion Deficiency, Type I

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

40
Bone Marrow, Neutrophil, Bone, Eye, Endothelial, Monocytes, Myeloid
Sources

Publications for Leukocyte Adhesion Deficiency, Type I

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Articles related to Leukocyte Adhesion Deficiency, Type I:

(show top 50) (show all 605)
# Title Authors PMID Year
1
A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity. 61 57 6
7686755 1993
2
Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form. 57 6 61
1590804 1992
3
Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 61 6 57
1694220 1990
4
Identification of two molecular defects in a child with leukocyte adherence deficiency. 6 57
1347532 1992
5
Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins. 6 57
1346613 1992
6
Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 6 57
1968911 1990
7
Deficiency of a leukocyte surface glycoprotein (LFA-1) in two patients with Mo1 deficiency. Effects of cell activation on Mo1/LFA-1 surface expression in normal and deficient leukocytes. 57 6
6237120 1984
8
Absence of monoclonal-antibody-defined protein complex in boy with abnormal leucocyte function. 6 57
6142255 1984
9
Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein. 57 6
7143170 1982
10
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. 6 61
24403049 2014
11
A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion. 6 61
21441448 2011
12
Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro. 61 6
20357244 2010
13
LAD-1/variant syndrome is caused by mutations in FERMT3. 61 6
19064721 2009
14
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. 6 61
19234463 2009
15
A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans. 6 61
19234460 2009
16
Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. 61 57
17244687 2007
17
A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. 61 6
12511588 2003
18
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. 6 61
12116250 2002
19
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. 6 61
11326279 2001
20
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. 6 61
11326280 2001
21
Leukocyte adhesion deficiency II-from A to almost Z. 6 61
11213799 2000
22
A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. 6 61
9884339 1999
23
Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells. 57 61
7902162 1993
24
Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. 61 6
1279426 1992
25
Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle. 61 57
1384046 1992
26
Bovine leukocyte adhesion deficiency. Beta 2 integrin deficiency in young Holstein cattle. 61 57
1605311 1992
27
An in vivo animal model of gene therapy for leukocyte adhesion deficiency. 57 61
1680882 1991
28
Correction of CD18-deficient lymphocytes by retrovirus-mediated gene transfer. 57 61
1972597 1990
29
Transfection of cells from patients with leukocyte adhesion deficiency with an integrin beta subunit (CD18) restores lymphocyte function-associated antigen-1 expression and function. 57 61
1968909 1990
30
Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency. 57 61
3594570 1987
31
Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins. 61 57
3555290 1987
32
Kindlin-3: a new gene involved in the pathogenesis of LAD-III. 6
18779414 2008
33
A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans. 6
10712675 2000
34
Spontaneous skin ulceration and defective T cell function in CD18 null mice. 57
9653089 1998
35
Integrins: versatility, modulation, and signaling in cell adhesion. 57
1555235 1992
36
The gene organisation of the human beta 2 integrin subunit (CD18). 57
1683838 1991
37
A genetic linkage map of 27 markers on human chromosome 21. 57
1674496 1991
38
Juvenile rheumatoid arthritis in two siblings with congenital leucocyte adhesion deficiency. 57
3234429 1988
39
Regional localization of CD18, the beta-subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization. 57
3073708 1988
40
The CD11/CD18 leukocyte glycoprotein deficiency. 57
3279017 1988
41
A monoclonal antibody to the adherence-promoting leukocyte glycoprotein, CD18, reduces organ injury and improves survival from hemorrhagic shock and resuscitation in rabbits. 57
3278007 1988
42
The expression of CD18 is increased on Trisomy 21 (Down syndrome) lymphoblastoid cells. 57
2964960 1988
43
Chromosomal assignments of genes coding for human leukocyte common antigen, T-200, and lymphocyte function-associated antigen 1, LFA-1 beta subunit. 57
2955527 1987
44
Leukocytes from four patients with complete or partial Leu-CAM deficiency contain the common beta-subunit precursor and beta-subunit messenger RNA. 57
2880869 1987
45
Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family. 57
3028646 1987
46
N-terminal sequence of human leukocyte glycoprotein Mo1: conservation across species and homology to platelet IIb/IIIa. 57
3539202 1986
47
Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985. 57
2877234 1986
48
LFA-1 immunodeficiency disease. Definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells. 57
3528378 1986
49
Genetic assignment of GP90, leukocyte adhesion glycoprotein to human chromosome 21. 57
2872730 1986
50
Clinical and laboratory features of patients with an inherited deficiency of neutrophil membrane complement receptor type 3 (CR3) and the related membrane antigens LFA-1 and p150,95. 57
3519653 1986
Sources

Variations for Leukocyte Adhesion Deficiency, Type I

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

6 (show top 50) (show all 558)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FERMT3 FERMT3, IVS13AS, A-G, -2 SNV Pathogenic 2708
2 FERMT3 NM_031471.6(FERMT3):c.161-2A>C SNV Pathogenic 31528 rs1286499329 11:63978081-63978081 11:64210609-64210609
3 FERMT3 NM_031471.6(FERMT3):c.1029+2T>C SNV Pathogenic 646802 rs1591038507 11:63987132-63987132 11:64219660-64219660
4 FERMT3 NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter) SNV Pathogenic 2709 rs121918296 11:63974884-63974884 11:64207412-64207412
5 FERMT3 NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) SNV Pathogenic 2710 rs121918297 11:63990566-63990566 11:64223094-64223094
6 FERMT3 NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter) SNV Pathogenic 2711 rs121918298 11:63979120-63979120 11:64211648-64211648
7 FERMT3 NM_031471.6(FERMT3):c.1275del (p.Glu426fs) Deletion Pathogenic 30687 rs775138431 11:63987762-63987762 11:64220290-64220290
8 FERMT3 NM_031471.6(FERMT3):c.814dup (p.Tyr272fs) Duplication Pathogenic 652864 rs1591037806 11:63986749-63986750 11:64219277-64219278
9 FERMT3 NM_031471.6(FERMT3):c.664_665del (p.Lys222fs) Deletion Pathogenic 643472 rs1591028090 11:63978896-63978897 11:64211424-64211425
10 SLC35C1 NM_018389.4(SLC35C1):c.439C>T (p.Arg147Cys) SNV Pathogenic 4739 rs28939087 11:45827791-45827791 11:45806240-45806240
11 SLC35C1 NM_018389.4(SLC35C1):c.923C>G (p.Thr308Arg) SNV Pathogenic 4740 rs28937886 11:45832714-45832714 11:45811163-45811163
12 ITGB2 NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) SNV Pathogenic 9458 rs137852609 21:46309291-46309291 21:44889376-44889376
13 ITGB2 NM_000211.5(ITGB2):c.587A>C (p.Lys196Thr) SNV Pathogenic 9459 rs137852610 21:46321561-46321561 21:44901646-44901646
14 ITGB2 NM_000211.5(ITGB2):c.446T>C (p.Leu149Pro) SNV Pathogenic 9460 rs137852611 21:46323333-46323333 21:44903418-44903418
15 ITGB2 NM_000211.5(ITGB2):c.505G>A (p.Gly169Arg) SNV Pathogenic 9461 rs137852612 21:46321643-46321643 21:44901728-44901728
16 ITGB2 NM_000211.5(ITGB2):c.2T>A (p.Met1Lys) SNV Pathogenic 9462 rs387906411 21:46330696-46330696 21:44910781-44910781
17 ITGB2 NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) SNV Pathogenic 9463 rs5030672 21:46309312-46309312 21:44889397-44889397
18 ITGB2 ITGB2, IVS?AS, -12, 12-BP INS Insertion Pathogenic 9464
19 ITGB2 NM_000211.5(ITGB2):c.1052A>G (p.Asn351Ser) SNV Pathogenic 9465 rs137852613 21:46314917-46314917 21:44895002-44895002
20 ITGB2 NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu) SNV Pathogenic 9466 rs137852614 21:46321615-46321615 21:44901700-44901700
21 ITGB2 NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn) SNV Pathogenic 9467 rs137852615 21:46323397-46323397 21:44903482-44903482
22 ITGB2 NM_000211.5(ITGB2):c.897+1G>A SNV Pathogenic 100763 rs201752283 21:46320234-46320234 21:44900319-44900319
23 ITGB2 NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) SNV Pathogenic 9469 rs137852616 21:46320282-46320282 21:44900367-44900367
24 ITGB2 NM_000211.5(ITGB2):c.412T>C (p.Ser138Pro) SNV Pathogenic 9470 rs137852617 21:46323367-46323367 21:44903452-44903452
25 ITGB2 NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) SNV Pathogenic 9471 rs137852618 21:46320315-46320315 21:44900400-44900400
26 ITGB2 ITGB2, IVS4AS, 169-BP DEL, -37 Deletion Pathogenic 9472
27 ITGB2 NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter) SNV Pathogenic 100744 rs483352816 21:46314939-46314939 21:44895024-44895024
28 ITGB2 NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) Deletion Pathogenic 100747 rs483352817 21:46313400-46313400 21:44893485-44893485
29 ITGB2 NM_000211.5(ITGB2):c.1877+2T>C SNV Pathogenic 100748 rs483352818 21:46309189-46309189 21:44889274-44889274
30 ITGB2 NM_000211.5(ITGB2):c.1907del (p.Lys636fs) Deletion Pathogenic 100750 rs483352819 21:46308781-46308781 21:44888866-44888866
31 ITGB2 NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) SNV Pathogenic 68215 rs137852615 21:46323397-46323397 21:44903482-44903482
32 ITGB2 NM_000211.5(ITGB2):c.576dup (p.Asn193fs) Duplication Pathogenic 100757 rs483352813 21:46321571-46321572 21:44901656-44901657
33 ITGB2 NM_000211.5(ITGB2):c.897+1G>T SNV Pathogenic 100764 rs201752283 21:46320234-46320234 21:44900319-44900319
34 ITGB2 NM_000211.5(ITGB2):c.897+1G>A SNV Pathogenic 100763 rs201752283 21:46320234-46320234 21:44900319-44900319
35 ITGB2 NM_000211.5(ITGB2):c.843del (p.Asn282fs) Deletion Pathogenic 100762 rs483352815 21:46320289-46320289 21:44900374-44900374
36 ITGB2 NM_000211.5(ITGB2):c.576dup (p.Asn193fs) Duplication Pathogenic 100757 rs483352813 21:46321571-46321572 21:44901656-44901657
37 ITGB2 NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) SNV Pathogenic 9469 rs137852616 21:46320282-46320282 21:44900367-44900367
38 ITGB2 NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) SNV Pathogenic 9458 rs137852609 21:46309291-46309291 21:44889376-44889376
39 ITGB2 NM_000211.5(ITGB2):c.786del (p.Thr263fs) Deletion Pathogenic 639240 rs1601302490 21:46320346-46320346 21:44900431-44900431
40 ITGB2 NM_000211.5(ITGB2):c.2051_2055dup (p.Leu686fs) Duplication Pathogenic 834432 21:46308632-46308633 21:44888717-44888718
41 SLC35C1 NM_018389.5(SLC35C1):c.367del (p.Val123fs) Deletion Pathogenic 836912 11:45827718-45827718 11:45806167-45806167
42 ITGB2 NM_000211.5(ITGB2):c.742-14C>A SNV Pathogenic 942517 21:46320404-46320404 21:44900489-44900489
43 ITGB2 NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter) SNV Pathogenic 636972 rs148877937 21:46321586-46321586 21:44901671-44901671
44 ITGB2 NM_000211.5(ITGB2):c.753del (p.Trp252fs) Deletion Pathogenic 964773 21:46320379-46320379 21:44900464-44900464
45 FERMT3 NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter) SNV Pathogenic 2712 rs121918295 11:63988121-63988121 11:64220649-64220649
46 SLC35C1 NM_018389.4(SLC35C1):c.91G>T (p.Glu31Ter) SNV Pathogenic 95906 rs398124345 11:45827443-45827443 11:45805892-45805892
47 ITGB2 NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) SNV Pathogenic/Likely pathogenic 625847 rs772471533 21:46326836-46326836 21:44906921-44906921
48 ITGB2 NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) SNV Likely pathogenic 9471 rs137852618 21:46320315-46320315 21:44900400-44900400
49 ITGB2 NM_000211.5(ITGB2):c.1835G>T (p.Cys612Phe) SNV Likely pathogenic 942948 21:46309233-46309233 21:44889318-44889318
50 ITGB2 NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter) SNV Likely pathogenic 931725 21:46308611-46308611 21:44888696-44888696

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

73 (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

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.
Sources

Pathways for Leukocyte Adhesion Deficiency, Type I

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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 47)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 14.03 TLN1 SELL RASGRP2 ITGB2 ITGAX ITGAM
2
ERK Signaling 63
Show member pathways
 13.81 TLN1 RASGRP2 ITGB2 ITGAX ITGAM ITGAL
3
Integrin Pathway 63
Show member pathways
 13.4 TLN1 ITGB2 ITGAX ITGAM ITGAL ITGAD
4
Akt Signaling 63
Show member pathways
 13.38 ITGB2 ITGAX ITGAM ITGAL ITGAD IL17A
5
Cytokine Signaling in Immune system 65
Show member pathways
 13.33 TLN1 ITGB2 ITGAX ITGAM IL17A ICAM1
6
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.11 TLN1 SELP SELL SELE RASGRP2 ITGB2
7
Actin Nucleation by ARP-WASP Complex 63
Show member pathways
 12.92 ITGB2 ITGAX ITGAM ITGAL ITGAD
8
Sertoli-Sertoli Cell Junction Dynamics 63
Show member pathways
 12.89 ITGB2 ITGAX ITGAM ITGAL ITGAD
9
Focal Adhesion 36 1
Show member pathways
 12.89 TLN1 ITGB2 ITGAX ITGAM ITGAL ITGAD
10
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.83 ITGB2 ITGAX ITGAM ITGAL ITGAD
11
Beta-Adrenergic Signaling 63
Show member pathways
 12.78 ITGB2 ITGAX ITGAM ITGAL ITGAD
12
Degradation of the extracellular matrix 65
Show member pathways
 12.74 ITGB2 ITGAX ITGAM ITGAL ITGAD ICAM2
13
Ras signaling pathway 36
Show member pathways
 12.73 TLN1 RASGRP2 ITGB2 ITGAM ITGAL APBB1IP
14
nNOS Signaling in Skeletal Muscle 63
Show member pathways
 12.67 TLN1 ITGB2 ITGAX ITGAM ITGAL ITGAD
15
Regulation of actin cytoskeleton 36 1
12.63 ITGB2 ITGAX ITGAM ITGAL ITGAD
16
Cytoskeletal Signaling 4
12.52 TLN1 ITGB2 ICAM2 FERMT2 FERMT1
17
Immune response Role of DAP12 receptors in NK cells 23
Show member pathways
 12.47 ITGB2 ITGAL ICAM2 ICAM1
18
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.37 ITGB2 ITGAX ITGAM ITGAL ITGAD
19
Immune response CCR3 signaling in eosinophils 23
Show member pathways
 12.31 TLN1 ITGB2 ITGAL ICAM1
20
Human T-cell leukemia virus 1 infection 36
12.31 TLN1 ITGB2 ITGAL ICAM1
21
Autophagy Pathway 66
12.26 ITGB2 ITGAX ITGAM ITGAL ITGAD FERMT2
22
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 12.23 ITGB2 ITGAX ITGAM ITGAL ITGAD
23
Actin Dynamics Signaling Pathway 66
12.19 ITGB2 ITGAX ITGAM ITGAL ITGAD FERMT2
24
Cell surface interactions at the vascular wall 65
Show member pathways
 12.16 SELP SELL SELE ITGB2 ITGAX ITGAM
25
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 65
12.09 SELL ITGB2 ITGAL ICAM2 ICAM1
26
ECM-receptor interaction 36
Show member pathways
 12.06 ITGB2 ITGAX ITGAM ITGAL ITGAD ICAM2
27
Platelet activation 36
12.02 TLN1 RASGRP2 FERMT3 APBB1IP
28
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.99 SELL ITGAX ITGAM ITGAL
29
Interleukin-4 and 13 signaling 65
11.99 ITGB2 ITGAX ITGAM IL17A ICAM1
30
Reelin Pathway (Cajal-Retzius cells) 63
11.97 ITGB2 ITGAX ITGAM ITGAL ITGAD
31
Staphylococcus aureus infection 36
11.9 SELP ITGB2 ITGAM ITGAL ICAM1
32
Rheumatoid arthritis 36
11.89 ITGB2 ITGAL IL17A ICAM1
33
Integrin alphaIIb beta3 signaling 65
Show member pathways
 11.86 TLN1 RASGRP2 APBB1IP
34
Phagocytosis of Microbes 63
11.8 ITGB2 ITGAX ITGAM ITGAL ITGAD
35
Adhesion 4
11.79 TLN1 ITGB2 ICAM2 ICAM1 FERMT3 FERMT2
36
Innate Lymphoid Cell Differentiation Pathways 64
11.76 ITGAM IL17A CCR6
37
G-protein signaling_RhoA regulation pathway 23
11.74 RASGRP2 ITGB2 ITGAX ITGAM ITGAL ITGAD
38
Dendritic Cells Developmental Lineage Pathway 64
11.72 SELL ITGAX ITGAM
39
IgA-Producing B Cells in the Intestine 64
11.71 ITGB2 ITGAL ICAM1 CCR6
40
Agrin Interactions at Neuromuscular Junction 63
11.64 ITGAX ITGAM ITGAL ITGAD
41
Cytoskeleton remodeling_RalA regulation pathway 23
11.53 TLN1 ITGB2 ITGAX ITGAM ITGAL ITGAD
42
Malaria 36
11.53 SELP SELE ITGB2 ITGAL ICAM1
43
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.48 TLN1 ITGB2 ITGAL
44
Immune response_Role of integrins in NK cells cytotoxicity 23
11.45 ITGB2 ITGAM ITGAL ICAM2 ICAM1
45
Cell adhesion molecules 36
11.4 SELP SELL SELE ITGB2 ITGAM ITGAL
46
amb2 Integrin signaling 1
11.11 TLN1 SELP ITGB2 ITGAM ICAM2 ICAM1
47
G-protein signaling_Rap2B regulation pathway 23
11.01 ITGB2 ITGAX ITGAM ITGAL ITGAD IL17A
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:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.23 TLN1 SLC35C1 SELP SELL SELE RASGRP2
2 plasma membrane GO:0005886 10.09 TLN1 SELP SELL SELE RASGRP2 ITGB2
3 cell projection GO:0042995 10.03 TLN1 RASGRP2 ICAM2 FERMT3 FERMT2 FERMT1
4 cell junction GO:0030054 10.02 TLN1 RASGRP2 FERMT3 FERMT2 FERMT1 APBB1IP
5 focal adhesion GO:0005925 9.88 TLN1 ITGB2 ICAM1 FERMT2 FERMT1 APBB1IP
6 external side of plasma membrane GO:0009897 9.87 SELP ITGB2 ITGAX ITGAM IL17A ICAM1
7 membrane raft GO:0045121 9.83 SELE ITGB2 ITGAM ICAM1
8 ruffle membrane GO:0032587 9.73 TLN1 RASGRP2 FERMT1
9 specific granule membrane GO:0035579 9.71 ITGB2 ITGAM ITGAL
10 tertiary granule membrane GO:0070821 9.69 ITGB2 ITGAX ITGAM
11 cell surface GO:0009986 9.61 TLN1 ITGB2 ITGAX ITGAM ITGAL ITGAD
12 cell-substrate junction GO:0030055 9.54 FERMT3 FERMT2 FERMT1
13 integrin alphaX-beta2 complex GO:0034689 9.49 ITGB2 ITGAX
14 integrin alphaM-beta2 complex GO:0034688 9.48 ITGB2 ITGAM
15 integrin alphaL-beta2 complex GO:0034687 9.46 ITGB2 ITGAL
16 integrin complex GO:0008305 9.02 ITGB2 ITGAX ITGAM ITGAL ITGAD

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 10.01 SELL ITGB2 ITGAX ITGAM ITGAL
2 inflammatory response GO:0006954 9.99 SELP SELE ITGB2 ITGAL IL17A
3 cytokine-mediated signaling pathway GO:0019221 9.96 ITGB2 ITGAX ITGAM IL17A ICAM1
4 regulation of immune response GO:0050776 9.92 SELL ITGB2 ITGAL ICAM2 ICAM1
5 cell-cell adhesion GO:0098609 9.89 TLN1 ITGB2 ITGAL ICAM2 ICAM1
6 extracellular matrix organization GO:0030198 9.87 ITGB2 ITGAX ITGAM ITGAL ITGAD ICAM2
7 leukocyte migration GO:0050900 9.86 SELP SELL SELE ITGB2 ITGAX ITGAM
8 cell-matrix adhesion GO:0007160 9.8 ITGB2 ITGAL FERMT3 FERMT2 FERMT1
9 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.76 SELP SELE ITGAL ICAM1
10 heterotypic cell-cell adhesion GO:0034113 9.71 ITGB2 ITGAX ITGAD
11 leukocyte tethering or rolling GO:0050901 9.69 SELP SELL SELE
12 leukocyte migration involved in inflammatory response GO:0002523 9.65 SELE ITGB2 CCR6
13 leukocyte cell-cell adhesion GO:0007159 9.63 SELP SELE ITGB2 ITGAL ICAM1 FERMT3
14 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.62 ITGB2 ICAM1
15 amyloid-beta clearance GO:0097242 9.62 ITGB2 ITGAM
16 positive regulation of integrin activation GO:0033625 9.61 FERMT2 FERMT1
17 integrin activation GO:0033622 9.61 TLN1 FERMT3 FERMT2
18 integrin-mediated signaling pathway GO:0007229 9.61 TLN1 ITGB2 ITGAX ITGAM ITGAL ITGAD
19 positive regulation of leukocyte tethering or rolling GO:1903238 9.6 SELP SELE
20 positive regulation of wound healing, spreading of epidermal cells GO:1903691 9.58 FERMT2 FERMT1
21 negative regulation of dopamine metabolic process GO:0045963 9.58 ITGB2 ITGAM
22 positive regulation of neutrophil degranulation GO:0043315 9.57 ITGB2 ITGAM
23 positive regulation of prostaglandin-E synthase activity GO:2000363 9.55 ITGB2 ITGAM
24 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell GO:0002291 9.54 ITGAL ICAM1 APBB1IP
25 cell adhesion GO:0007155 9.47 TLN1 SELP SELL SELE ITGB2 ITGAX

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.67 ITGB2 ITGAX ICAM1 CCR6
2 cargo receptor activity GO:0038024 9.4 ITGB2 ITGAM
3 glycosphingolipid binding GO:0043208 9.32 SELP SELL
4 integrin binding GO:0005178 9.28 TLN1 ITGB2 ITGAX ITGAM ICAM2 ICAM1
5 complement component C3b binding GO:0001851 9.26 ITGB2 ITGAM
6 ICAM-3 receptor activity GO:0030369 9.16 ITGB2 ITGAL
7 oligosaccharide binding GO:0070492 9.13 SELP SELL SELE
Sources

Sources for Leukocyte Adhesion Deficiency, Type I

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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