Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
LAD1
MCID: LKC009
MIFTS: 71

Leukocyte Adhesion Deficiency, Type I (LAD1)

Categories: Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Leukocyte Adhesion Deficiency, Type I

About this section

MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type I:

Name: Leukocyte Adhesion Deficiency, Type I 57 53 38
Leukocyte Adhesion Deficiency 57 11 58 28 12 5 14 38 75
Leukocyte Adhesion Deficiency 1 11 73 28 5 14
Lad1 57 11 42 73
Lymphocyte Function-Associated Antigen 1 Immunodeficiency 57 11 19
Leukocyte-Adhesion Deficiency Syndrome 43 16 71
Leukocyte Adhesion Deficiency Type I 11 19 58
Leukocyte Adhesion Deficiency Type 1 19 42 71
Linear Iga Bullous Dermatosis 19 71 33
Linear Iga Dermatosis 19 58 16
Lad 57 19 58
Congenital Leukocyte Adherence Deficiency 11 71
Leukocyte Adhesion Deficiency Syndrome 75 53
Lfa1 Immunodeficiency 57 11
Linear Iga Disease 19 33
Lad-I 19 58
Leukocyte Adhesion Molecule Deficiency Type 1 42
Linear Immunoglobulin a Dermatosis 19
Leucocyte Adhesion Deficiency Type 1 42
Lfa 1 Immunodeficiency 19
Lad 1 19

Characteristics:


Inheritance:

Leukocyte Adhesion Deficiency, Type I: Autosomal recessive 57
Leukocyte Adhesion Deficiency Type I: Autosomal recessive 58
Leukocyte Adhesion Deficiency: Autosomal recessive 58

Prevelance:

Linear Iga Dermatosis: 1-9/1000000 (Germany) <1/1000000 (Kuwait, Singapore) 58
Leukocyte Adhesion Deficiency Type I: 1-9/1000000 (Europe) 58

Age Of Onset:

Linear Iga Dermatosis: All ages 58
Leukocyte Adhesion Deficiency Type I: Childhood 58
Leukocyte Adhesion Deficiency: Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
corrected by bone marrow transplantation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Skin diseases Eye diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare eye diseases
Rare skin diseases
Rare immunological diseases


Sources

Summaries for Leukocyte Adhesion Deficiency, Type I

About this section

MedlinePlus Genetics: 42 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.

MalaCards based summary: Leukocyte Adhesion Deficiency, Type I, also known as leukocyte adhesion deficiency, is related to pyoderma gangrenosum and periodontitis. An important gene associated with Leukocyte Adhesion Deficiency, Type I is ITGB2 (Integrin Subunit Beta 2), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Fludarabine and Alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and neutrophil, and related phenotypes are autoimmunity and papule

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 08-Dec-2022)

Orphanet 58 Leukocyte adhesion deficiency: Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.

Linear iga dermatosis: A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ).

Leukocyte adhesion deficiency type i: Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.

Disease Ontology 11 Leukocyte adhesion deficiency 1: A leukocyte adhesion deficiency that has material basis in mutation of the ITGB2 gene on chromosome 21q22.3.

Leukocyte adhesion deficiency: 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.

GARD: 19 Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.

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

Wikipedia: 75 Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder characterized by... more...
Sources

Related Diseases for Leukocyte Adhesion Deficiency, Type I

About this section

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

(show top 50) (show all 398)
# Related Disease Score Top Affiliating Genes
1 pyoderma gangrenosum 31.0 SIGLEC5 ITGB2 CCR6
2 periodontitis 30.9 SIGLEC5 IL17A ICAM1
3 skin disease 30.9 SIGLEC5 SELL SELE ITGB2 ITGAX ITGAM
4 pyoderma 30.9 ITGB2 IL17A CCR6
5 periodontitis, aggressive, 1 30.7 SELE ITGB2
6 keratoconjunctivitis 30.7 SELE ITGAL ICAM1
7 common cold 30.6 IL17A ICAM1 CCR6
8 chickenpox 30.6 IL17A DOCK8 CCR6
9 immune deficiency disease 30.6 SIGLEC5 SELL ITGB2 ITGAM ITGAL IL17A
10 allergic disease 30.4 SELL SELE IL17A ICAM1 CCR6
11 mastitis 30.4 SELE IL17A ICAM1
12 hashimoto thyroiditis 30.4 ITGAL ICAM1 CCR6
13 extrinsic allergic alveolitis 30.3 SELL ITGAL CCR6
14 bacterial infectious disease 30.3 SELL ITGB2 ITGAM IL17A CCR6
15 aphthous stomatitis 30.3 SIGLEC5 IL17A CCR6
16 iga glomerulonephritis 30.3 SELL SELE ICAM1 CCR6
17 lichen planus 30.2 ITGAL IL17A ICAM1
18 bacterial pneumonia 30.2 ITGAM IL17A CCR6
19 psoriasis 30.2 SELE ITGB2 ITGAL IL17A ICAM1 CCR6
20 salmonellosis 30.1 ITGAX ITGAM IL17A CCR6
21 sarcoidosis 1 30.1 ITGAM IL17A ICAM1 CCR6
22 crohn's disease 30.1 SIGLEC5 IL17A CCR6
23 psoriasis 1 30.0 IL17A CCR6
24 asthma 30.0 SELL SELE ITGB2 ITGAM ITGAL IL17A
25 leukemia, chronic lymphocytic 30.0 SELL ITGB2 ITGAX ITGAL CCR6
26 peritonitis 30.0 SELL ITGB2 ITGAM IL17A ICAM1
27 vasculitis 29.9 SELL SELE ITGB2 ITGAM IL17A ICAM1
28 dermatitis, atopic 29.7 SELL SELE ITGAX ITGAM IL17A ICAM1
29 leukocyte adhesion deficiency, type iii 29.6 TLN1 SLC35C1 RASGRP2 ITGB2 ITGAL ITGAD
30 systemic lupus erythematosus 29.5 SIGLEC5 SELL SELE ITGB2 ITGAX ITGAM
31 inflammatory bowel disease 29.5 SELL SELE ITGB2 ITGAM ITGAL IL17A
32 combined immunodeficiency 28.5 TLN1 SLC35C1 SELL SELE RASGRP2 ITGB2
33 congenital disorder of glycosylation, type iic 11.2
34 cicatricial pemphigoid 11.1
35 epidermolysis bullosa acquisita 11.1
36 bullous pemphigoid 11.1
37 epidermolysis bullosa 11.1
38 pyloric atresia 10.9
39 myasthenic syndrome, congenital, 5 10.9
40 alzheimer disease 18 10.9
41 epidermolysis bullosa, junctional 4, intermediate 10.9
42 pemphigus gestationis 10.9
43 junctional epidermolysis bullosa 10.9
44 dermatitis herpetiformis 10.5
45 pemphigoid 10.4
46 collecting duct carcinoma 10.4
47 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.4
48 hyperglobulinemic purpura 10.4 SELE ICAM1
49 graft-versus-host disease 10.4
50 rheumatoid vasculitis 10.4 SELE ICAM1

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

About this section

Human phenotypes related to Leukocyte Adhesion Deficiency, Type I:

58 30 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmunity 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002960
2 papule 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0200034
3 abnormal blistering of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008066
4 impaired neutrophil chemotaxis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0040238
5 gingivitis 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000230
6 otitis media 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000388
7 recurrent urinary tract infections 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000010
8 bone marrow hypocellularity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0005528
9 pneumonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002090
10 peritonitis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002586
11 leukocytosis 58 30 Very rare (1%) Frequent (79-30%)
 HP:0001974
12 oral ulcer 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000155
13 recurrent aphthous stomatitis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0011107
14 recurrent staphylococcal infections 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007499
15 chronic oral candidiasis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009098
16 lymphocytic interstitial pneumonia 30 Frequent (33%) HP:0006527
17 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001249
18 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001250
19 coarse facial features 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000280
20 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004322
21 sinusitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000246
22 autism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000717
23 inflammation of the large intestine 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002037
24 bronchiectasis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002110
25 epistaxis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000421
26 conjunctivitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000509
27 meningitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001287
28 osteomyelitis 58 30 Very rare (1%) Occasional (29-5%)
 HP:0002754
29 sepsis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100806
30 abnormal bleeding 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001892
31 polycythemia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001901
32 pruritus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000989
33 nail dystrophy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008404
34 renal neoplasm 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009726
35 cerebral atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002059
36 severe periodontitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000166
37 bladder neoplasm 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009725
38 glomerulonephritis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000099
39 thrombocytosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001894
40 hyperinsulinemic hypoglycemia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000825
41 perianal abscess 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009789
42 pyoderma gangrenosum 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0025452
43 hemolytic-uremic syndrome 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005575
44 impaired platelet aggregation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003540
45 vaginitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0030683
46 nasolacrimal sac granuloma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0500035
47 bcgosis 30 Occasional (7.5%) HP:0020087
48 neonatal omphalitis 30 Occasional (7.5%) HP:0032435
49 recurrent tonsillitis 30 Occasional (7.5%) HP:0011110
50 microcephaly 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 APBB1IP CCR6 FERMT1 FERMT3 ICAM1 IL17A
2 immune system MP:0005387 10.13 APBB1IP CCR6 DOCK8 FERMT1 FERMT3 ICAM1
3 cellular MP:0005384 10.03 DOCK8 FERMT1 FERMT2 ICAM1 ITGAL ITGAM
4 hematopoietic system MP:0005397 9.58 APBB1IP CCR6 DOCK8 FERMT3 ICAM1 ICAM2
5 respiratory system MP:0005388 9.56 APBB1IP FERMT2 ICAM2 IL17A SELE SELL
Sources

Drugs & Therapeutics for Leukocyte Adhesion Deficiency, Type I

About this section

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
2
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
4
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
5
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
6
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
7
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
8
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
9
Melphalan Approved Phase 2 148-82-3 4053 460612
10
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
11
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7 4897
12 Antiviral Agents Phase 2
13 interferons Phase 2
14 Interferon-gamma Phase 2
15 Cyclosporins Phase 2
16
Methylprednisolone Acetate Phase 2 584547
17 Dermatologic Agents Phase 1, Phase 2
18 Immunoglobulins Phase 1, Phase 2
19 Interleukin-12 Phase 1, Phase 2
20 Antibodies, Monoclonal Phase 1, Phase 2
21 Antibodies Phase 1, Phase 2
22
Levoleucovorin Approved, Experimental, Investigational Phase 1 68538-85-2, 58-05-9, 73951-54-9 149436 6006
23
Abatacept Approved Phase 1 332348-12-6
24
Mycophenolic acid Approved, Investigational Phase 1 24280-93-1 446541
25
Dapsone Approved, Investigational Phase 1 80-08-0 2955
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
27 Anti-Infective Agents Phase 1
28 Folic Acid Antagonists Phase 1
29 Antirheumatic Agents Phase 1
30 Folate Phase 1
31 Vitamin B9 Phase 1
32 Vitamin B Complex Phase 1
33 Immunosuppressive Agents Phase 1
34 Immune Checkpoint Inhibitors Phase 1
35 Anti-Bacterial Agents Phase 1
36 Antiprotozoal Agents Phase 1
37 Antiparasitic Agents Phase 1
38 Antimalarials Phase 1
39
Busulfan Approved, Investigational 55-98-1 2478
40
Etoposide Approved 33419-42-0 36462
41
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
42
Methotrexate Approved 1959-05-2, 59-05-2 4112 126941
43
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
44
Clotrimazole Approved, Vet_approved 23593-75-1 2812
45
Alefacept Approved, Investigational, Withdrawn 222535-22-0
46 Antineoplastic Agents, Hormonal
47 Alkylating Agents
48 Antineoplastic Agents, Alkylating
49
Etoposide phosphate 16760419
50 Neuroprotective Agents

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Phase 3, Randomized, Double-blind, Two-period, Crossover, Withdrawal Study to Assess the Efficacy and Safety of AVTX-803 in Subjects With Leukocyte Adhesion Deficiency Type II (LAD II) Recruiting NCT05462587 Phase 3 AVTX-803 (L-Fucose)
2 Study of ORL-1F (L-fucose) in Patients With Leukocyte Adhesion Deficiency Type II Completed NCT03354533 Phase 1, Phase 2 L-fucose
3 Treatment of Leukocyte Adhesion Deficiency With Allogeneic Stem Cell Transplantation Completed NCT00031005 Phase 2
4 Interferon Gamma Administration in Leukocyte Adhesion Deficiency Type I Completed NCT00001905 Phase 2 Interferon gamma
5 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
6 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
7 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 Active, not recruiting NCT03812263 Phase 1, Phase 2
8 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
9 Pharmacokinetics and Distribution of Dapsone (DDS) in Leucocytes After Single-dose and Multiple-dose Administration in Healthy Subjects Genotyped for CYP2C9 and NAT2 and in Patients With Autoimmune Bullous Dermatoses Completed NCT02493283 Phase 1 Dapsone single dose;Dapsone multiple dose
10 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. Withdrawn NCT03825783 Phase 1
11 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
12 Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses Unknown status NCT01952275
13 Follow-Up of a Phase-I Gene Therapy Trial of Patients With Leukocyte Adherence Deficiency Completed NCT00023010
14 Screening and Baseline Assessment of Patients With Abnormalities of Immune Function Recruiting NCT00128973
15 Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency Recruiting NCT01212055
16 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
17 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

Sources

Genetic Tests for Leukocyte Adhesion Deficiency, Type I

About this section

Genetic tests related to Leukocyte Adhesion Deficiency, Type I:

# Genetic test Affiliating Genes
1 Leukocyte Adhesion Deficiency 1 28 ITGB2
2 Leukocyte Adhesion Deficiency 28
Sources

Anatomical Context for Leukocyte Adhesion Deficiency, Type I

About this section

Organs/tissues related to Leukocyte Adhesion Deficiency, Type I:

MalaCards : Skin, Bone Marrow, Neutrophil, Bone, Monocytes, Eye, Myeloid
ODiseA: Blood And Bone Marrow
Sources

Publications for Leukocyte Adhesion Deficiency, Type I

About this section

Articles related to Leukocyte Adhesion Deficiency, Type I:

(show top 50) (show all 1627)
# Title Authors PMID Year
1
A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity. 62 57 5
7686755 1993
2
Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form. 62 57 5
1590804 1992
3
Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 62 57 5
1694220 1990
4
Identification of two molecular defects in a child with leukocyte adherence deficiency. 57 5
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. 57 5
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. 57 5
1968911 1990
7
Absence of monoclonal-antibody-defined protein complex in boy with abnormal leucocyte function. 57 5
6142255 1984
8
Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein. 57 5
7143170 1982
9
A novel mutation of the ITGB2 gene in a Chinese Zhuang minority patient with leukocyte adhesion deficiency type 1 and glucose-6-phosphate dehydrogenase deficiency. 62 5
31374327 2019
10
Leucocyte adhesion deficiency-A multicentre national experience. 62 5
30412664 2019
11
Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations. 62 5
25703682 2015
12
Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1. 62 5
25514840 2015
13
Hematologically important mutations: leukocyte adhesion deficiency (first update). 62 5
22134107 2012
14
The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients. 62 5
21103413 2010
15
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1). 62 5
17875809 2008
16
Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. 62 57
17244687 2007
17
Preimplantation genetic diagnosis of leukocyte adhesion deficiency type I. 62 5
16595236 2006
18
Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations. 62 5
11882363 2002
19
Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population. 62 5
12488604 2001
20
A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. 62 5
9884339 1999
21
Molecular characterization of leukocyte adhesion deficiency in six patients. 62 5
7705401 1995
22
Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells. 62 57
7902162 1993
23
Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle. 62 57
1384046 1992
24
Bovine leukocyte adhesion deficiency. Beta 2 integrin deficiency in young Holstein cattle. 62 57
1605311 1992
25
An in vivo animal model of gene therapy for leukocyte adhesion deficiency. 62 57
1680882 1991
26
Correction of CD18-deficient lymphocytes by retrovirus-mediated gene transfer. 62 57
1972597 1990
27
Transfection of cells from patients with leukocyte adhesion deficiency with an integrin beta subunit (CD18) restores lymphocyte function-associated antigen-1 expression and function. 62 57
1968909 1990
28
Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency. 62 57
3594570 1987
29
Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins. 62 57
3555290 1987
30
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. 62 57
3528378 1986
31
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
32
Characterization of four CD18 mutants in leucocyte adhesion deficient (LAD) patients with differential capacities to support expression and function of the CD11/CD18 integrins LFA-1, Mac-1 and p150,95. 5
11703376 2001
33
Spontaneous skin ulceration and defective T cell function in CD18 null mice. 57
9653089 1998
34
Integrins: versatility, modulation, and signaling in cell adhesion. 57
1555235 1992
35
The gene organisation of the human beta 2 integrin subunit (CD18). 57
1683838 1991
36
A genetic linkage map of 27 markers on human chromosome 21. 57
1674496 1991
37
Juvenile rheumatoid arthritis in two siblings with congenital leucocyte adhesion deficiency. 57
3234429 1988
38
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
39
The CD11/CD18 leukocyte glycoprotein deficiency. 57
3279017 1988
40
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
41
The expression of CD18 is increased on Trisomy 21 (Down syndrome) lymphoblastoid cells. 57
2964960 1988
42
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
43
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
44
Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family. 57
3028646 1987
45
N-terminal sequence of human leukocyte glycoprotein Mo1: conservation across species and homology to platelet IIb/IIIa. 57
3539202 1986
46
Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985. 57
2877234 1986
47
Genetic assignment of GP90, leukocyte adhesion glycoprotein to human chromosome 21. 57
2872730 1986
48
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
49
p150,95, the third member of the Mac-1, LFA-1 human leukocyte adhesion glycoprotein family. 57
3510003 1986
50
Characterization of patients with an increased susceptibility to bacterial infections and a genetic deficiency of leukocyte membrane complement receptor type 3 and the related membrane antigen LFA-1. 57
3899217 1985
Sources

Variations for Leukocyte Adhesion Deficiency, Type I

About this section

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

5 (show top 50) (show all 560)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGB2 NM_000211.5(ITGB2):c.587A>C (p.Lys196Thr) SNV Pathogenic
 9459 rs137852610 GRCh37: 21:46321561-46321561
GRCh38: 21:44901646-44901646
2 ITGB2 NM_000211.5(ITGB2):c.446T>C (p.Leu149Pro) SNV Pathogenic
 9460 rs137852611 GRCh37: 21:46323333-46323333
GRCh38: 21:44903418-44903418
3 ITGB2 NM_000211.5(ITGB2):c.505G>A (p.Gly169Arg) SNV Pathogenic
 9461 rs137852612 GRCh37: 21:46321643-46321643
GRCh38: 21:44901728-44901728
4 ITGB2 NM_000211.5(ITGB2):c.2T>A (p.Met1Lys) SNV Pathogenic
 9462 rs387906411 GRCh37: 21:46330696-46330696
GRCh38: 21:44910781-44910781
5 ITGB2 NM_000211.5(ITGB2):c.1052A>G (p.Asn351Ser) SNV Pathogenic
 9465 rs137852613 GRCh37: 21:46314917-46314917
GRCh38: 21:44895002-44895002
6 ITGB2 NM_000211.5(ITGB2):c.412T>C (p.Ser138Pro) SNV Pathogenic
 9470 rs137852617 GRCh37: 21:46323367-46323367
GRCh38: 21:44903452-44903452
7 ITGB2 NM_000211.5(ITGB2):c.305_306del (p.Lys102fs) DEL Pathogenic
 1064458 GRCh37: 21:46326852-46326853
GRCh38: 21:44906937-44906938
8 ITGB2 NM_000211.5(ITGB2):c.1657+1G>T SNV Pathogenic
 1012309 GRCh37: 21:46309892-46309892
GRCh38: 21:44889977-44889977
9 ITGB2 NM_000211.5(ITGB2):c.1491C>A (p.Cys497Ter) SNV Pathogenic
 1324597 GRCh37: 21:46310059-46310059
GRCh38: 21:44890144-44890144
10 ITGB2 NM_000211.5(ITGB2):c.1759del (p.Arg587fs) DEL Pathogenic
 1386540 GRCh37: 21:46309309-46309309
GRCh38: 21:44889394-44889394
11 ITGB2 NM_000211.5(ITGB2):c.2036del (p.Gln679fs) DEL Pathogenic
 1455590 GRCh37: 21:46308652-46308652
GRCh38: 21:44888737-44888737
12 ITGB2 NM_000211.5(ITGB2):c.1537_1538del (p.Val513fs) MICROSAT Pathogenic
 1453796 GRCh37: 21:46310012-46310013
GRCh38: 21:44890097-44890098
13 ITGB2 NM_000211.5(ITGB2):c.1057del (p.Val353fs) DEL Pathogenic
 1365830 GRCh37: 21:46314912-46314912
GRCh38: 21:44894997-44894997
14 ITGB2 NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter) SNV Pathogenic
 100744 rs483352816 GRCh37: 21:46314939-46314939
GRCh38: 21:44895024-44895024
15 ITGB2 NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) DEL Pathogenic
 100747 rs483352817 GRCh37: 21:46313400-46313400
GRCh38: 21:44893485-44893485
16 ITGB2 NM_000211.5(ITGB2):c.1877+2T>C SNV Pathogenic
 100748 rs483352818 GRCh37: 21:46309189-46309189
GRCh38: 21:44889274-44889274
17 ITGB2 NM_000211.5(ITGB2):c.753del (p.Trp252fs) DEL Pathogenic
 964773 rs1349812924 GRCh37: 21:46320379-46320379
GRCh38: 21:44900464-44900464
18 ITGB2 NM_000211.5(ITGB2):c.1907del (p.Lys636fs) DEL Pathogenic
 100750 rs483352819 GRCh37: 21:46308781-46308781
GRCh38: 21:44888866-44888866
19 ITGB2 NM_000211.5(ITGB2):c.786del (p.Thr263fs) DEL Pathogenic
 639240 rs1601302490 GRCh37: 21:46320346-46320346
GRCh38: 21:44900431-44900431
20 ITGB2 NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) SNV Pathogenic
 68215 rs137852615 GRCh37: 21:46323397-46323397
GRCh38: 21:44903482-44903482
21 ITGB2 NM_000211.5(ITGB2):c.576dup (p.Asn193fs) DUP Pathogenic
Pathogenic
 100757 rs483352813 GRCh37: 21:46321571-46321572
GRCh38: 21:44901656-44901657
22 ITGB2 NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) SNV Pathogenic
 9469 rs137852616 GRCh37: 21:46320282-46320282
GRCh38: 21:44900367-44900367
23 ITGB2 NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter) SNV Pathogenic
 636972 rs148877937 GRCh37: 21:46321586-46321586
GRCh38: 21:44901671-44901671
24 ITGB2 NM_000211.5(ITGB2):c.843del (p.Asn282fs) DEL Pathogenic
 100762 rs483352815 GRCh37: 21:46320289-46320289
GRCh38: 21:44900374-44900374
25 ITGB2 NM_000211.5(ITGB2):c.897+1G>T SNV Pathogenic
 100764 rs201752283 GRCh37: 21:46320234-46320234
GRCh38: 21:44900319-44900319
26 ITGB2 NM_000211.5(ITGB2):c.897+1G>A SNV Pathogenic
 100763 rs201752283 GRCh37: 21:46320234-46320234
GRCh38: 21:44900319-44900319
27 ITGB2 NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn) SNV Pathogenic
 9467 rs137852615 GRCh37: 21:46323397-46323397
GRCh38: 21:44903482-44903482
28 ITGB2 NM_000211.5(ITGB2):c.1367dup (p.Ser457fs) DUP Pathogenic
 1454255 GRCh37: 21:46311768-46311769
GRCh38: 21:44891853-44891854
29 ITGB2 NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) SNV Pathogenic
 9458 rs137852609 GRCh37: 21:46309291-46309291
GRCh38: 21:44889376-44889376
30 ITGB2 NM_000211.5(ITGB2):c.2051_2055dup (p.Leu686fs) DUP Pathogenic
 834432 rs2083735130 GRCh37: 21:46308632-46308633
GRCh38: 21:44888717-44888718
31 ITGB2 NM_000211.5(ITGB2):c.742-14C>A SNV Pathogenic
 942517 rs183204825 GRCh37: 21:46320404-46320404
GRCh38: 21:44900489-44900489
32 ITGB2 NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) SNV Pathogenic
 1065606 rs5030672 GRCh37: 21:46309312-46309312
GRCh38: 21:44889397-44889397
33 ITGB2 NC_000021.8:g.(?_46306138)_(46330717_?)del DEL Pathogenic
 1070718 GRCh37: 21:46306138-46330717
GRCh38:
34 ITGB2 NM_000211.5(ITGB2):c.2070del (p.Asp690fs) DEL Pathogenic
 985608 rs1466186480 GRCh37: 21:46308618-46308618
GRCh38: 21:44888703-44888703
35 ITGB2 NM_000211.5(ITGB2):c.616C>T (p.His206Tyr) SNV Pathogenic
 1705747 GRCh37: 21:46321532-46321532
GRCh38: 21:44901617-44901617
36 ITGB2 NM_000211.5(ITGB2):c.329-36_452del DEL Pathogenic
 9472 GRCh37: 21:46323327-46323486
GRCh38: 21:44903412-44903571
37 ITGB2 NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu) SNV Pathogenic
 9466 rs137852614 GRCh37: 21:46321615-46321615
GRCh38: 21:44901700-44901700
38 ITGB2 NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) SNV Pathogenic/Likely Pathogenic
 625847 rs772471533 GRCh37: 21:46326836-46326836
GRCh38: 21:44906921-44906921
39 ITGB2 NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) SNV Pathogenic/Likely Pathogenic
 9471 rs137852618 GRCh37: 21:46320315-46320315
GRCh38: 21:44900400-44900400
40 ITGB2 NM_000211.5(ITGB2):c.1835G>T (p.Cys612Phe) SNV Likely Pathogenic
 942948 rs2083749716 GRCh37: 21:46309233-46309233
GRCh38: 21:44889318-44889318
41 ITGB2 NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) SNV Likely Pathogenic
 100759 rs483352814 GRCh37: 21:46321442-46321442
GRCh38: 21:44901527-44901527
42 ITGB2 NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) SNV Likely Pathogenic
 68216 rs179363873 GRCh37: 21:46321433-46321433
GRCh38: 21:44901518-44901518
43 ITGB2 NM_000211.5(ITGB2):c.898-1G>C SNV Likely Pathogenic
 1511450 GRCh37: 21:46319078-46319078
GRCh38: 21:44899163-44899163
44 ITGB2 NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) SNV Likely Pathogenic
 1324598 GRCh37: 21:46306698-46306698
GRCh38: 21:44886783-44886783
45 ITGB2 NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) INSERT Likely Pathogenic
 623141 rs1568879914 GRCh37: 21:46308728-46308729
GRCh38: 21:44888813-44888814
46 ITGB2 NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter) SNV Likely Pathogenic
 931725 rs2083734400 GRCh37: 21:46308611-46308611
GRCh38: 21:44888696-44888696
47 ITGB2 NM_000211.5(ITGB2):c.994-1G>C SNV Likely Pathogenic
 1339025 GRCh37: 21:46314976-46314976
GRCh38: 21:44895061-44895061
48 ITGB2 NM_000211.5(ITGB2):c.768G>A (p.Thr256=) SNV Conflicting Interpretations Of Pathogenicity
 727859 rs201148219 GRCh37: 21:46320364-46320364
GRCh38: 21:44900449-44900449
49 ITGB2 NM_000211.5(ITGB2):c.742-15A>G SNV Conflicting Interpretations Of Pathogenicity
 897930 rs199665785 GRCh37: 21:46320405-46320405
GRCh38: 21:44900490-44900490
50 ITGB2 NM_000211.5(ITGB2):c.59-9G>A SNV Conflicting Interpretations Of Pathogenicity
 724548 rs141780263 GRCh37: 21:46330296-46330296
GRCh38: 21:44910381-44910381

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

About this section
Search GEO for disease gene expression data for Leukocyte Adhesion Deficiency, Type I.
Sources

Pathways for Leukocyte Adhesion Deficiency, Type I

About this section

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

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.93 CCR6 ICAM1 ICAM2 IL17A ITGAL ITGAM
2
ERK Signaling 64
Show member pathways
 13.79 CCR6 FERMT2 IL17A ITGAD ITGAL ITGAM
3
Integrin Pathway 64
Show member pathways
 13.39 CCR6 ICAM1 ICAM2 ITGAD ITGAL ITGAM
4
Akt Signaling 64
Show member pathways
 13.36 CCR6 IL17A ITGAD ITGAL ITGAM ITGAX
5
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.06 APBB1IP DOCK8 FERMT3 ITGAL ITGAM ITGAX
6
Actin Nucleation by ARP-WASP Complex 64
Show member pathways
 12.89 ITGB2 ITGAX ITGAM ITGAL ITGAD
7
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 12.87 ITGB2 ITGAX ITGAM ITGAL ITGAD
8
Beta-Adrenergic Signaling 64
Show member pathways
 12.83 ITGB2 ITGAX ITGAM ITGAL ITGAD
9
NFAT and Cardiac Hypertrophy 64
Show member pathways
 12.81 ITGB2 ITGAX ITGAM ITGAL ITGAD
10
DREAM Repression and Dynorphin Expression 64
Show member pathways
 12.75 TLN1 ITGB2 ITGAX ITGAM ITGAL ITGAD
11
MAPK-Erk Pathway 67
Show member pathways
 12.72 ITGB2 ITGAX ITGAM ITGAL ITGAD FERMT2
12
Extracellular matrix organization 66
Show member pathways
 12.72 ICAM1 ICAM2 ITGAD ITGAL ITGAM ITGAX
13
Complement cascade 66
Show member pathways
 12.58 SELL SELE ITGB2 ITGAX ITGAM ICAM2
14
Cytoskeletal Signaling 3
12.52 TLN1 ITGB2 ICAM2 FERMT2 FERMT1
15
Autophagy pathway 67
Show member pathways
 12.36 ITGB2 ITGAX ITGAM ITGAL ITGAD FERMT2
16
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.33 ITGB2 ITGAX ITGAM ITGAL ITGAD
17
Immune response CCR3 signaling in eosinophils 22
Show member pathways
 12.29 TLN1 ITGB2 ITGAL ICAM1
18
Integrin-mediated cell adhesion 74
Show member pathways
 12.21 ITGAD ITGAL ITGAM ITGAX ITGB2 TLN1
19
MAPK Signaling: Mitogens 65
Show member pathways
 12.2 ITGB2 ITGAX ITGAM ITGAL ITGAD
20
Cell surface interactions at the vascular wall 66
Show member pathways
 12.15 SELL SELE ITGB2 ITGAX ITGAM ITGAL
21
Integrin family cell surface interactions 61
Show member pathways
 12.08 ITGB2 ITGAX ITGAM ITGAL ITGAD
22
Hematopoietic Stem Cells and Lineage-specific Markers 65
11.98 SELL ITGAX ITGAM ITGAL
23
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 66
11.97 SIGLEC5 SELL ITGB2 ITGAL ICAM2 ICAM1
24
Reelin Pathway (Cajal-Retzius cells) 64
11.96 ITGB2 ITGAX ITGAM ITGAL ITGAD
25
Interleukin-4 and Interleukin-13 signaling 66
11.96 ITGB2 ITGAX ITGAM IL17A ICAM1
26
ECM proteoglycans 66
Show member pathways
 11.92 ITGB2 ITGAX ITGAM ITGAL ITGAD ICAM2
27
Immune response Lectin induced complement pathway 22
Show member pathways
 11.89 ITGB2 ITGAX ITGAM
28
Integrin signaling 66
Show member pathways
 11.84 TLN1 RASGRP2 APBB1IP
29
CCL18 signaling pathway 74
11.83 ITGB2 ITGAL CCR6
30
Innate Lymphoid Cells Differentiation 65
11.74 ITGAM IL17A CCR6
31
G-protein signaling_RhoA regulation pathway 22
11.73 RASGRP2 ITGB2 ITGAX ITGAM ITGAL ITGAD
32
Dendritic Cells Developmental Lineage Pathway 65
11.7 SELL ITGAX ITGAM
33
Extrafollicular B cell activation by SARS-CoV-2 74
11.68 SELL ITGB2 ITGAX
34
TYROBP causal network in microglia 74
11.66 ITGB2 ITGAX ITGAM APBB1IP
35
Agrin Interactions at Neuromuscular Junction 64
11.63 ITGAX ITGAM ITGAL ITGAD
36
Adhesion 3
11.59 TLN1 ITGB2 ICAM2 ICAM1 FERMT3 FERMT2
37
Cytoskeleton remodeling_RalA regulation pathway 22
11.52 TLN1 ITGB2 ITGAX ITGAM ITGAL ITGAD
38
Immune response_Role of integrins in NK cells cytotoxicity 22
11.36 ITGB2 ITGAM ITGAL ICAM2 ICAM1
39
amb2 Integrin signaling 61
11.27 TLN1 ITGB2 ITGAM ICAM1
40
G-protein signaling_Rap2B regulation pathway 22
11.01 ITGB2 ITGAX ITGAM ITGAL ITGAD IL17A
41
Beta2 integrin cell surface interactions 61
10.63 ITGB2 ITGAX ITGAM ITGAL ITGAD ICAM2
Sources

GO Terms for Leukocyte Adhesion Deficiency, Type I

About this section

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:0016021 11.05 CCR6 ICAM1 ICAM2 ITGAD ITGAL ITGAM
2 membrane GO:0016020 11.05 CCR6 ICAM1 ICAM2 ITGAD ITGAL ITGAM
3 plasma membrane GO:0005886 10.74 APBB1IP CCR6 DOCK8 FERMT1 FERMT2 ICAM1
4 plasma membrane GO:0005887 10.74 CCR6 ICAM1 ICAM2 SELE SELL
5 focal adhesion GO:0005925 10.27 APBB1IP FERMT1 FERMT2 ICAM1 ITGB2 TLN1
6 cell surface GO:0009986 10.11 TLN1 ITGB2 ITGAX ITGAM ITGAL ITGAD
7 ficolin-1-rich granule membrane GO:0101003 10.01 SIGLEC5 ITGB2 ITGAX
8 tertiary granule membrane GO:0070821 9.97 ITGAM ITGAX ITGB2 SIGLEC5
9 cell projection GO:0042995 9.97 TLN1 RASGRP2 ICAM2 FERMT3 FERMT2 FERMT1
10 anchoring junction GO:0070161 9.91 TLN1 FERMT3 FERMT2 FERMT1 APBB1IP
11 external side of plasma membrane GO:0009897 9.91 CCR6 ICAM1 IL17A ITGAD ITGAL ITGAM
12 integrin alphaX-beta2 complex GO:0034689 9.76 ITGB2 ITGAX
13 integrin alphaM-beta2 complex GO:0034688 9.73 ITGB2 ITGAM
14 cell-substrate junction GO:0030055 9.73 FERMT1 FERMT2 FERMT3
15 integrin alphaL-beta2 complex GO:0034687 9.71 ITGB2 ITGAL
16 integrin complex GO:0008305 9.32 ITGB2 ITGAX ITGAM ITGAL ITGAD

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 10.24 ICAM1 ICAM2 ITGAD ITGAL TLN1 ITGB2
2 cell adhesion mediated by integrin GO:0033627 10.1 ITGB2 ITGAX ITGAM ITGAL ITGAD ICAM1
3 cell-matrix adhesion GO:0007160 10.06 FERMT1 FERMT2 FERMT3 ITGAD ITGAL ITGAM
4 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 10.03 SELE ITGAL ICAM1
5 leukocyte cell-cell adhesion GO:0007159 10.03 FERMT3 ICAM1 ITGAL ITGB2 SELE SELL
6 heterotypic cell-cell adhesion GO:0034113 9.99 ITGB2 ITGAX ITGAD
7 integrin activation GO:0033622 9.91 FERMT3 FERMT2 TLN1
8 integrin-mediated signaling pathway GO:0007229 9.91 FERMT1 FERMT2 FERMT3 ITGAD ITGAL ITGAM
9 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell GO:0002291 9.88 ITGAL ICAM1 APBB1IP
10 positive regulation of integrin activation GO:0033625 9.87 FERMT2 FERMT1
11 positive regulation of wound healing, spreading of epidermal cells GO:1903691 9.85 FERMT2 FERMT1
12 leukocyte migration involved in inflammatory response GO:0002523 9.85 CCR6 ITGB2 SELE
13 positive regulation of neutrophil degranulation GO:0043315 9.84 ITGAM ITGB2
14 leukocyte migration GO:0050900 9.83 SELL SELE ICAM1
15 positive regulation of prostaglandin-E synthase activity GO:2000363 9.8 ITGAM ITGB2
16 negative regulation of dopamine metabolic process GO:0045963 9.78 ITGB2 ITGAM
17 cell adhesion GO:0007155 9.7 TLN1 SIGLEC5 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 integrin binding GO:0005178 9.66 TLN1 ITGB2 ITGAX ITGAM ITGAL ITGAD
2 ICAM-3 receptor activity GO:0030369 9.26 ITGB2 ITGAL
Sources

Sources for Leukocyte Adhesion Deficiency, Type I

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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
Content
Loading form....