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humans (54) 54
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1. Full Text Leukocyte adhesion deficiencies
by Hanna, Suhair and Etzioni, Amos
Annals of the New York Academy of Sciences, ISSN 0077-8923, 02/2012, Volume 1250, Issue 1, pp. 50 - 55
Leukocyte trafficking from the blood stream to tissues is essential for continuous surveillance of foreign antigens. This dynamic process, designated as the... 
fucose | adhesion cascade | leukocyte adhesion deficiency | integrin | kindlin‐3 | Integrin | Leukocyte adhesion deficiency | Kindlin-3 | Fucose | MULTIDISCIPLINARY SCIENCES | DEFECT | kindlin-3 | CONGENITAL DISORDER | GLYCOSYLATION | PATHOGENESIS | INTEGRIN ACTIVATION | LAD-III | GENE | PATIENT | MUTATIONS | Leukocyte-Adhesion Deficiency Syndrome - pathology | Leukocytes - pathology | Lewis X Antigen - genetics | Humans | Neoplasm Proteins - immunology | Leukocytes - immunology | Integrin beta Chains - immunology | Golgi Apparatus - immunology | Neoplasm Proteins - genetics | Carrier Proteins - immunology | Endothelium - pathology | Cell Adhesion - genetics | Leukocyte Rolling - genetics | Leukocyte-Adhesion Deficiency Syndrome - genetics | Membrane Proteins - genetics | Lewis X Antigen - immunology | Endothelium - immunology | Membrane Proteins - immunology | Leukocyte-Adhesion Deficiency Syndrome - immunology | Leukocyte Rolling - immunology | Cell Adhesion - immunology | Carrier Proteins - genetics | Animals | Integrin beta Chains - genetics | Golgi Apparatus - genetics | Analysis | Integrins | Rodents | Mutation
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2. Leukocyte Adhesion Deficiencies
by van de Vijver, Edith and van den Berg, Timo K and Kuijpers, Taco W
Hematology/Oncology Clinics of North America, ISSN 0889-8588, 02/2013, Volume 27, Issue 1, pp. 101 - 116
During inflammation, leukocytes play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes... 
LAD-III | β integrins | LAD-I | Inflammation | Leukocytes | LAD-II | Leukocyte adhesion deficiency | Kindlin-3 | DEFECTS | beta integrins | NEUTROPHIL ADHESION | GDP-FUCOSE TRANSPORTER | INTEGRIN ACTIVATION | GENE | ONCOLOGY | ENDOTHELIAL-CELLS | MUTATIONS | HEMATOLOGY | Leukocyte-Adhesion Deficiency Syndrome - etiology | Prognosis | Congenital Disorders of Glycosylation | Humans | Leukocyte-Adhesion Deficiency Syndrome - complications | Leukocyte-Adhesion Deficiency Syndrome - diagnosis | Leukocyte-Adhesion Deficiency Syndrome - therapy
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3. Full Text Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation
by Hogg, Nancy and Patzak, Irene and Svensson, Lena and Fried, Mike and Howarth, Kimberley and Evans, Rachel and Moser, Markus and McDowall, Alison and Ussar, Siegfried and Tomlinson, Ian and Metin, Ayse
Nature Medicine, ISSN 1078-8956, 03/2009, Volume 15, Issue 3, pp. 306 - 312
Integrins are the major adhesion receptors of leukocytes and platelets. β1 and β2 integrin function on leukocytes is crucial for a successful immune response... 
MEDICINE, RESEARCH & EXPERIMENTAL | EXCHANGE FACTOR | GENETIC-ANALYSIS | CAIDAG-GEFI | PROTEIN | PLATELET-AGGREGATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | CALDAG-GEFI | CELL BIOLOGY | LAD-III | TALIN | BETA INTEGRINS | T-LYMPHOCYTES | CD18 Antigens - metabolism | Leukocyte-Adhesion Deficiency Syndrome - genetics | Membrane Proteins - genetics | Membrane Proteins - physiology | Base Sequence | Humans | Neoplasm Proteins - physiology | RNA, Messenger - genetics | Mutation | Neoplasm Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Physiological aspects | Genetic aspects | Research | Gene mutations | Cell adhesion | Integrins | Leucocytes | Immunology | Binding sites | Cell adhesion & migration
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4. Full Text Hematologically important mutations: Leukocyte adhesion deficiency (first update)
by van de Vijver, Edith and Maddalena, Anne and Sanal, Özden and Holland, Steven M and Uzel, Gulbu and Madkaikar, Manisha and de Boer, Martin and van Leeuwen, Karin and Köker, M. Yavuz and Parvaneh, Nima and Fischer, Alain and Law, S.K. Alex and Klein, Nigel and Tezcan, F. Ilhan and Unal, Ekrem and Patiroglu, Turkan and Belohradsky, Bernd H and Schwartz, Klaus and Somech, Raz and Kuijpers, Taco W and Roos, Dirk
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 2012, Volume 48, Issue 1, pp. 53 - 61
Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall.... 
LAD-III | β Integrins | GDP-fucose transporter | LAD-II | LAD-I | Kindlin-3 | beta Integrins | POINT MUTATION | GENETIC-ANALYSIS | CELL-SURFACE EXPRESSION | LAD | BETA-2 INTEGRINS | CD18 | PATIENT | TYPE-1 | HEMATOLOGY | CD18 Antigens - blood | Cell Adhesion - genetics | Leukocyte-Adhesion Deficiency Syndrome - genetics | CD18 Antigens - genetics | Membrane Proteins - genetics | Humans | Leukocyte-Adhesion Deficiency Syndrome - classification | Neutrophils - immunology | Child, Preschool | Leukocyte-Adhesion Deficiency Syndrome - immunology | Leukocyte-Adhesion Deficiency Syndrome - blood | Leukocytes - immunology | Monosaccharide Transport Proteins - blood | Golgi Apparatus - metabolism | Neoplasm Proteins - blood | Protein Conformation | Membrane Proteins - blood | Neoplasm Proteins - genetics | Leukocytes - metabolism | Neutrophils - metabolism | Infant, Newborn | Golgi Apparatus - genetics | Monosaccharide Transport Proteins - genetics | Genetic aspects | Bacterial infections | Genes | Integrins | β integrins | ITGB2 | SLC35C1 | kindlin-3 | FERMT3
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5. Full Text Lessons from rare maladies: leukocyte adhesion deficiency syndromes
by Harris, Estelle S and Weyrich, Andrew S and Zimmerman, Guy A
Current Opinion in Hematology, ISSN 1065-6251, 01/2013, Volume 20, Issue 1, pp. 16 - 25
PURPOSE OF REVIEWThe leukocyte adhesion deficiency (LAD) syndromes are rare genetically determined conditions with challenging clinical features. These... 
Infection | Platelet | Neutrophil | Monocyte | Immunodeficiency | KINDLIN-3 | infection | LFA-1 | NEUTROPHILS | GLYCOSYLATION | NATURAL-HISTORY | neutrophil | INTEGRIN ACTIVATION | LAD-III | WOUND-HEALING DEFECT | monocyte | platelet | immunodeficiency | HEMATOLOGY | BETA INTEGRINS | T-CELLS | Cell Adhesion - immunology | Leukocytes - immunology | Animals | CD18 Antigens - immunology | Leukocyte-Adhesion Deficiency Syndrome - genetics | Humans | Leukocyte-Adhesion Deficiency Syndrome - immunology | Leukocytes - metabolism
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6. Full Text Leukocyte Adhesion Deficiency III - When Integrins Activation Fails
by Etzioni, Amos
Journal of Clinical Immunology, ISSN 0271-9142, 11/2014, Volume 34, Issue 8, pp. 900 - 903
Medical Microbiology | Biomedicine | Immunology | Leukocyte Adhesion Deficiency III | Infectious Diseases | Internal Medicine | immunodeficiency | kindlin 3 | KINDLIN-3 | DEFECTS | LAD-III | GENE | BETA-3 | CALDAG-GEFI | MUTATIONS | IMMUNOLOGY | CELL-ACTIVATION | Leukocytes - pathology | Leukocyte-Adhesion Deficiency Syndrome - genetics | Membrane Proteins - genetics | Humans | Integrins - genetics | Membrane Proteins - metabolism | Leukocyte-Adhesion Deficiency Syndrome - physiopathology | Neoplasm Proteins - genetics | Neoplasm Proteins - metabolism | Integrins - metabolism | Leukocytes - metabolism | Integrins
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7. Full Text Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro
by McDowall, Alison and Svensson, Lena and Stanley, Paula and Patzak, Irene and Chakravarty, Probir and Howarth, Kimberley and Sabnis, Himalee and Briones, Michael and Hogg, Nancy
Blood, ISSN 0006-4971, 06/2010, Volume 115, Issue 23, pp. 4834 - 4842
In the disorder leukocyte adhesion deficiency III (LAD-III), integrins on platelets and leukocytes are expressed but fail to function and this leads to severe... 
ALPHA-IIB-BETA-3 | DOMAIN | INTEGRIN ACTIVATION | LAD-III | TALIN | MECHANISMS | MESSENGER-RNA DECAY | HEMATOLOGY | CELL-MATRIX ADHESION | BETA INTEGRINS | T-LYMPHOCYTES | Humans | Genetic Diseases, Inborn - genetics | African Americans | Integrins - genetics | Infant | Mutation, Missense | Neoplasm Proteins - metabolism | RNA, Messenger - metabolism | Integrins - metabolism | Cell Movement - genetics | T-Lymphocytes - metabolism | Leukocyte-Adhesion Deficiency Syndrome - metabolism | Female | Genetic Diseases, Inborn - metabolism | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | B-Lymphocytes - metabolism | Protein Structure, Tertiary | Cell Adhesion - genetics | Leukocyte-Adhesion Deficiency Syndrome - genetics | Membrane Proteins - genetics | RNA, Messenger - genetics | RNA Stability - genetics | Homozygote | Amino Acid Substitution
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8. Full Text Leukocyte Adhesion Deficiency-I with a Novel Intronic Mutation Presenting with Pyoderma Gangrenosum- Like Lesions
by Madkaikar, Manisha and Italia, Khushnooma and Gupta, Maya and Desai, Mukesh and Aggarwal, Amita and Singh, Surjit and Suri, Deepti and Mishra, Anju and Chavan, Sushant and Ghosh, Kanjaksha and Sarangal, Rishu and Dogra, Sunil
Journal of Clinical Immunology, ISSN 0271-9142, 5/2015, Volume 35, Issue 4, pp. 431 - 434
Pyoderma gangrenosum (PG) is an uncommon noninfectious neutrophilic dermatosis characterized by recurrent, sterile, necrotic skin ulcers. It is commonly... 
Medical Microbiology | ITGB2 gene mutation | primary immunodeficiency disorder | Biomedicine | Immunology | pyoderma gangrenosum | LAD-I | Infectious Diseases | Internal Medicine | TRAFFICKING | IMMUNOLOGY | INFLAMMATORY RESPONSE | OSCILLATIONS | SPLICING SIGNALS | Diagnosis, Differential | Leukocyte-Adhesion Deficiency Syndrome - genetics | CD18 Antigens - genetics | Introns | Humans | Child, Preschool | Immunophenotyping | Male | Leukocyte-Adhesion Deficiency Syndrome - diagnosis | Skin Ulcer - pathology | Phenotype | DNA Mutational Analysis | Adolescent | Female | Consanguinity | Leukocyte Count | Pyoderma Gangrenosum - diagnosis | Mutation | Child | Neutrophils - metabolism | Rheumatoid factor | Gene mutations | Pyoderma | Gastrointestinal diseases | Children's hospitals | Immunotherapy | Immunodeficiency | Genetic aspects | Transplantation | Hematopoietic stem cells
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9. Full Text A new mutation in the KINDLIN‐3 gene ablates integrin‐dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency‐III
by Crazzolara, Roman and Maurer, Kathrin and Schulze, Harald and Zieger, Barbara and Zustin, Jozef and Schulz, Ansgar S
Pediatric Blood & Cancer, ISSN 1545-5009, 09/2015, Volume 62, Issue 9, pp. 1677 - 1679
Disabling mutations in integrin‐mediated cell signaling have been a major focus of interest over the last decade for patients affected with leukocyte adhesion... 
osteopetrosis | KINDLIN‐3 | platelet malfunction | LAD‐III | leukocytosis | KINDLIN-3 | Platelet malfunction | LAD-III | Leukocytosis | Osteopetrosis | ONCOLOGY | PEDIATRICS | HEMATOLOGY | Leukocyte-Adhesion Deficiency Syndrome - pathology | Humans | Neoplasm Proteins - physiology | Homeostasis | Blood Platelets - physiology | Leukocytes - physiology | Mutation, Missense | Hemorrhagic Disorders - genetics | Membrane Proteins - deficiency | Osteoclasts - ultrastructure | Bone Resorption - genetics | Membrane Proteins - physiology | Bone Marrow Transplantation | Female | Osteoclasts - physiology | Neoplasm Proteins - genetics | Platelet Aggregation - genetics | Infant, Newborn | Osteopetrosis - genetics | Integrins - physiology | Osteopetrosis - pathology | Leukocyte-Adhesion Deficiency Syndrome - genetics | Membrane Proteins - genetics | Osteopetrosis - therapy | Exons - genetics | Codon, Nonsense | Cell Nucleus - ultrastructure | Cell Adhesion | Remission Induction | Point Mutation | Bone Resorption - pathology | Neoplasm Proteins - deficiency | Leukocyte-Adhesion Deficiency Syndrome - therapy
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10. Full Text Leukocyte adhesion deficiency syndrome: a controversy solved
by Abram, Clare L and Lowell, Clifford A
Immunology and Cell Biology, ISSN 0818-9641, 08/2009, Volume 87, Issue 6, pp. 440 - 442
KINDLIN-3 | GEFI | ACTIVATION | LAD-III | IMMUNOLOGY | CELL BIOLOGY | Blood Platelets - pathology | Leukocytes - pathology | Blood Platelets - immunology | Allosteric Regulation | Humans | Actins - metabolism | Neoplasm Proteins - immunology | Neoplasm Proteins - metabolism | Actins - immunology | Leukocytes - immunology | Signal Transduction - immunology | Integrin beta Chains - immunology | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Cell Adhesion - genetics | Genetic Predisposition to Disease | Leukocyte-Adhesion Deficiency Syndrome - genetics | Membrane Proteins - genetics | Membrane Proteins - immunology | Leukocyte-Adhesion Deficiency Syndrome - immunology | Polymorphism, Genetic | Cell Adhesion - immunology | Leukocyte-Adhesion Deficiency Syndrome - etiology | Blood Platelets - metabolism | Protein Binding | Integrin beta Chains - metabolism | Integrin beta Chains - genetics | Mutation | Leukocytes - metabolism
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11. Full Text Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: Identification of 9 novel mutations
by Madkaikar, Manisha and Italia, Khushnooma and Gupta, Maya and Chavan, Sushant and Mishra, Anju and Rao, Meghna and Mhatre, Snehal and Desai, Mukesh and Manglani, Mamta and Singh, Surjit and Suri, Deepti and Agrawal, Amita and Ghosh, Kanjaksha
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 03/2015, Volume 54, Issue 3, pp. 217 - 223
Leukocyte adhesion deficiency type-I (LAD-I) is caused by mutations in the gene, encoding the β -subunit of β -integrin (CD18) which leads to markedly reduced... 
Flow cytometry | ITGB2 gene | Prenatal diagnosis | β2 integrin | LAD-1 | CD18 | integrin | POINT MUTATION | LFA-1 | MAC-1 | DISORDERS | beta integrin | SPLICING SIGNALS | LAD | HEMATOLOGICALLY IMPORTANT MUTATIONS | TYPE-1 | HEMATOLOGY | PRENATAL-DIAGNOSIS | Leukocytes - pathology | European Continental Ancestry Group - genetics | Leukocyte-Adhesion Deficiency Syndrome - genetics | CD18 Antigens - genetics | Humans | Prenatal Diagnosis | Infant | Male | Leukocyte-Adhesion Deficiency Syndrome - diagnosis | India | DNA Mutational Analysis | Female | Mutation | Leukocytes - metabolism | Infant, Newborn | Genetic aspects | Integrins
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12. Full Text Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3
by Suratannon, Narissara and Yeetong, Patra and Srichomthong, Chalurmpon and Amarinthnukrowh, Pramuk and Chatchatee, Pantipa and Sosothikul, Darintr and Hagen, P. Martin and Burg, Mirjam and Wentink, Marjolein and Driessen, Gertjan J and Suphapeetiporn, Kanya and Shotelersuk, Vorasuk
Pediatric Allergy and Immunology, ISSN 0905-6157, 03/2016, Volume 27, Issue 2, pp. 214 - 217
PEDIATRICS | INTEGRIN ACTIVATION | LAD-III | IMMUNOLOGY | ALLERGY | Leukocyte-Adhesion Deficiency Syndrome - genetics | Membrane Proteins - genetics | Humans | B-Lymphocytes - physiology | Child, Preschool | Infant | Leukocyte-Adhesion Deficiency Syndrome - diagnosis | Pneumonia, Bacterial - diagnosis | Mutation - genetics | Adaptive Immunity - genetics | Cell Differentiation - genetics | Pedigree | Antibodies - blood | Female | Pneumonia, Bacterial - genetics | Neoplasm Proteins - genetics | Immunoglobulin Class Switching - genetics
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13. Full Text Clinical profile of leukocyte adhesion deficiency type I
by Madkaikar, Manisha and Currimbhoy, Z and Gupta, M and Desai, M and Rao, M
Indian Pediatrics, ISSN 0019-6061, 1/2012, Volume 49, Issue 1, pp. 43 - 45
Leukocyte adhesion deficiency type I (LAD-I) is a rare, inherited immunodeficiency with defect in the recruitment of leukocyte to the site of inflammation.... 
Pediatrics | Medicine & Public Health | Inherited immunodeficiency | Neutrophilia | Maternal and Child Health | Leukocyte adhesion deficiency (LAD-I) | Pediatric Surgery | MAC-1 | PEDIATRICS | LFA-1 | Children's hospitals | Immunodeficiency
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14. Full Text Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population
by Deshpande, Prashant and Kathirvel, Kotteeswari and Alex, Ansu Abu and Korula, Anu and George, Biju and Shaji, RV and Mathews, Vikram
The Indian Journal of Pediatrics, ISSN 0019-5456, 8/2016, Volume 83, Issue 8, pp. 799 - 804
To describe clinical and flow cytometric immunophenotyping details of 26 patients of Leukocyte adhesion deficiency-I (LAD-I) along with molecular... 
Pediatrics | Flow cytometry | ITGB2 immunodeficiency | Medicine & Public Health | Gynecology | Leukocyte adhesion | CD11/CD18 | NEUTROPHILS | IDENTIFICATION | LAD | INTEGRINS | CD18 | PEDIATRICS | MUTATIONS | SEPARATION | EXPRESSION | PRENATAL-DIAGNOSIS | Homozygote | Leukocyte-Adhesion Deficiency Syndrome - genetics | Bacterial Infections | DNA Mutational Analysis | Humans | Child, Preschool | Infant | Leukocyte-Adhesion Deficiency Syndrome - diagnosis | Leukocyte-Adhesion Deficiency Syndrome - immunology | Leukocytes | CD18 Antigens | India | Medical colleges | Blood cell count | Bacterial infections
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15. Full Text Leukocyte adhesion deficiency type II: Long-term follow-up and review of the literature
by Gazit, Yael and Mory, Adi and Etzioni, Amos and Frydman, Moshe and Scheuerman, Oded and Gershoni-Baruch, Ruth and Garty, Ben-Zion
Journal of Clinical Immunology, ISSN 0271-9142, 03/2010, Volume 30, Issue 2, pp. 308 - 313
Leukocyte adhesion deficiency (LAD) is a group of rare inherited disorders characterized by immune deficiency and peripheral neutrophilia. There are only seven... 
Adhesion defects | Selectins | Immunodeficiency | Neutrophilia | Fucose | fucose | neutrophilia | DEFECT | selectins | IMMUNOLOGY | adhesion defects | GDP-FUCOSE TRANSPORTER | INTEGRIN ACTIVATION | LAD-III | THERAPY | GENE | HASHARON SYNDROME | Leukocyte-Adhesion Deficiency Syndrome - pathology | Genetic Predisposition to Disease | Leukocyte-Adhesion Deficiency Syndrome - genetics | Autistic Disorder | Humans | Fetal Growth Retardation | Male | Leukocyte-Adhesion Deficiency Syndrome - diagnosis | Polymorphism, Genetic | Point Mutation - genetics | DNA Mutational Analysis | Pedigree | Adult | Consanguinity | Israel | Leukocyte-Adhesion Deficiency Syndrome - physiopathology | Intellectual Disability | Monosaccharide Transport Proteins - genetics | Neutrophils - pathology | Medical colleges | Amino acids | Genetic disorders | Gene mutations | Analysis
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