Leukocyte adhesion deficiency type 1

An autosomal recessive form of leukocyte adhesion deficiency syndrome that results from a deficiency of the beta-2 integrin subunit (ITGB2 gene) of the leukocyte cell adhesion molecule which is present on the surface of peripheral blood MONONUCLEAR LEUKOCYTES and GRANULOCYTES and mediates cell-cell and cell-EXTRACELLULAR MATRIX adhesion. OMIM: 116920

Also Known As:

Networked: 41 relevant articles (2 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Crohn Disease (Crohn's Disease)
2.	Pseudomonas Infections
3.	Infections
4.	Bacterial Infections (Bacterial Infection)
5.	Inflammation (Inflammations)

Experts

1.	Hajishengallis, George: 3 articles (11/2020 - 03/2014)
2.	Moutsopoulos, Niki M: 3 articles (11/2020 - 03/2014)
3.	Holland, Steven M: 3 articles (01/2017 - 05/2010)
4.	Bader, Peter: 2 articles (03/2022 - 12/2021)
5.	Bakhtiar, Shahrzad: 2 articles (03/2022 - 12/2021)
6.	Ayas, Mouhab: 2 articles (12/2021 - 08/2011)
7.	Ghavamzadeh, Ardeshir: 2 articles (12/2021 - 03/2011)
8.	Chavakis, Triantafyllos: 2 articles (11/2020 - 03/2014)
9.	Lougaris, Vassilios: 2 articles (01/2018 - 10/2014)
10.	Dutzan, Nicolas: 2 articles (01/2017 - 03/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Leukocyte adhesion deficiency type 1:

1.	IntegrinsIBA 01/01/2011 - "To identify cellular promoters in a self-inactivating (SIN) lentiviral vector that might be beneficial in treating children with leukocyte adhesion deficiency type 1 (LAD-1), we tested lentiviral vectors with human CD11 and CD18 leukocyte integrin proximal promoter elements directing expression of canine CD18 in animals with canine LAD (CLAD). " 06/01/2007 - "In this study, we analyzed IL-2-activated polyclonal natural killer (NK) cells derived from 2 patients affected by leukocyte adhesion deficiency type I (LAD1), an immunodeficiency characterized by mutations of the gene coding for CD18, the beta subunit shared by major leukocyte integrins. " 12/01/2022 - "We provide the first pre-clinical evidence of the therapeutic utility of a foamy virus vector (FVV) for the genetic correction of human leukocyte adhesion deficiency type 1 (LAD-1), an inherited primary immunodeficiency resulting from mutation of the β2 integrin common chain, CD18. " 11/01/2020 - "The diminished expression of β2 integrins in patients with mutations in the ITGB2 (CD18) gene (leukocyte adhesion deficiency-Type 1; LAD1) results in few or no neutrophils in peripheral tissues. " 01/01/2020 - "β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1)."
2.	Complement Receptors (Complement Receptor)IBA 04/01/2001 - "In vitro studies of phagocytic cells from an infant with leukocyte adhesion deficiency type I demonstrated that complement receptor 3 (CD18/CD11b) mediates nonopsonic phagocytosis of some Pseudomonas aeruginosa strains and might play a control role in the control of Pseudomonas infections at sites where there are low levels of opsonins." 09/01/2009 - "Two other notable complement-associated deficiencies are complement receptor 3 and 4 deficiency, which result from a deficiency of CD18, a disease known as leukocyte adhesion deficiency type 1, and CD59 deficiency, which causes paroxysmal nocturnal hemoglobinuria. "
3.	Cell Surface ReceptorsIBA 01/01/2020 - "Previous studies using phagocytes from a leukocyte adhesion deficiency type 1 (LAD-I) patient identified CD18 as a putative cell surface receptor for uptake of live P. "
4.	Opsonin Proteins (Opsonins)IBA 04/01/2001 - "In vitro studies of phagocytic cells from an infant with leukocyte adhesion deficiency type I demonstrated that complement receptor 3 (CD18/CD11b) mediates nonopsonic phagocytosis of some Pseudomonas aeruginosa strains and might play a control role in the control of Pseudomonas infections at sites where there are low levels of opsonins."
5.	Lymphocyte Function-Associated Antigen-1 (LFA-1)IBA 11/01/2006 - "To corroborate the importance of the ICAM-1- LFA-1 interaction, we performed transmission experiments to LFA-1 negative leukocytes from Leukocyte Adhesion Deficiency type 1 (LAD-1) patients. " 03/25/2022 - "Understanding the Role of LFA-1 in Leukocyte Adhesion Deficiency Type I (LAD I): Moving towards Inflammation?" 03/25/2022 - "Absent or dysfunctional expression of LFA-1, caused by mutations in the ITGB2 (integrin subunit beta 2) gene, results in a rare immunodeficiency syndrome known as Leukocyte adhesion deficiency type I (LAD I). " 07/01/2007 - "Leukocyte adhesion deficiency type I (LAD-I) is an inherited immunodeficiency disorder caused by defective expression of the leukocyte integrins, namely, lymphocyte function-associated antigen 1, Mac-1, and p150, 95, and is associated with obstructed cell adhesion, migration, and phagocytosis. "
6.	Interleukin-12 (IL 12)IBA 01/01/2022 - "Oral Ulcers Resolution Using IL12/23 Blockade in an Infant with Leukocyte Adhesion Deficiency Type 1." 01/01/2017 - "Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1."
7.	Cyclophosphamide (Cytoxan)FDA LinkGeneric 01/01/2022 - "Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I." 10/01/2019 - "Haploidentical stem cell transplantation with post-transplant cyclophosphamide in leukocyte adhesion deficiency type 1: a case report."
8.	Interleukin-23 (Interleukin 23)IBA 01/01/2017 - "Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1."
9.	CD11b AntigenIBA 01/01/2011 - "Serendipitously, it was discovered that the Mo1 antigen was the heterodimeric glycoprotein (gp155,95) absent from the surface of neutrophils isolated from patients with adhesion defects in vitro and a syndrome characterized by chronic, life-threatening infections in vivo (a syndrome now termed leukocyte adhesion deficiency, type 1) (LAD-1). "
10.	NADPH Oxidases (NAD(P)H oxidase)IBA 12/01/2013 - "Inborn errors of the phagocyte NADPH oxidase complex (chronic granulomatous disease), severe congenital neutropenia (SCN) and leukocyte adhesion deficiency type I confer a predisposition to invasive aspergillosis and candidiasis. "

Therapies and Procedures

1.	Transplantation 02/01/2020 - "This study aims to investigate the efficacy and safety of umbilical cord blood transplantation (UCBT) without serotherapy for treating children with leukocyte adhesion deficiency type I (LAD-I). " 02/01/2020 - "Successful umbilical cord blood transplantation in children with leukocyte adhesion deficiency type I." 07/01/2013 - "Remission of Crohn's disease after cord blood transplantation for leukocyte adhesion deficiency type 1."
2.	Stem Cell Transplantation 03/01/2011 - "Successful allogeneic stem cell transplantation with a reduced-intensity conditioning in a leukocyte adhesion deficiency type I patient." 10/01/2019 - "Haploidentical stem cell transplantation with post-transplant cyclophosphamide in leukocyte adhesion deficiency type 1: a case report."
3.	Hematopoietic Stem Cell Transplantation 12/01/2021 - "Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III." 08/01/2011 - "Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type 1: a single center experience."
4.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 07/01/2007 - "Successful nonmyeloablative bone marrow transplantation for leukocyte adhesion deficiency type I from an unrelated donor." 02/01/2010 - "Pyoderma gangrenosum after bone marrow transplantation for leukocyte adhesion deficiency type 1."