Type III Leukocyte Adhesion Deficiency

aka LAD1V or IADD; associated with mutations in KIND3

Also Known As:

Leukocyte Adhesion Deficiency, Type III; Integrin Activation Deficiency Disease; Leukocyte Adhesion Deficiency 1 Variant; Leukocyte Adhesion Deficiency 3

Networked: 15 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Primary Immunodeficiency Diseases: 1189
    - Leukocyte-Adhesion Deficiency Syndrome: 20
      - Type III Leukocyte Adhesion Deficiency: 15
Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1189
    - Leukocyte-Adhesion Deficiency Syndrome: 20
      - Type III Leukocyte Adhesion Deficiency: 15

Related Diseases

1.	Hemorrhage
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Infections
4.	Thrombasthenia (Glanzmann Thrombasthenia)
5.	Suppuration

Experts

1.	Kuijpers, Taco W: 2 articles (01/2021 - 05/2009)
2.	Tool, Anton T J: 2 articles (01/2021 - 05/2009)
3.	van den Berg, Timo K: 2 articles (01/2021 - 05/2009)
4.	Alessi, Marie-Christine: 2 articles (01/2018 - 12/2017)
5.	Chambost, Hervé: 2 articles (01/2018 - 12/2017)
6.	Michel, Gérard: 2 articles (01/2018 - 12/2017)
7.	Saultier, Paul: 2 articles (01/2018 - 12/2017)
8.	Fagerholm, Susanna Carola: 2 articles (07/2015 - 08/2013)
9.	Morrison, Vicky Louise: 2 articles (07/2015 - 08/2013)
10.	Savinko, Terhi: 2 articles (07/2015 - 08/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type III Leukocyte Adhesion Deficiency:

1.	IntegrinsIBA 01/01/2013 - "Here, we summarize these results and we discuss their relevance to recent functional studies of integrin-receptor association in cells from a patient with type III leukocyte adhesion deficiency. " 01/01/2023 - "Leukocyte and platelet integrin function defects are present in leukocyte adhesion deficiency type III (LAD-III) due to mutations in FERMT3. " 01/01/2020 - "Leukocyte adhesion deficiency type III (LAD-III) is caused by mutations in FERMT3 that encodes Kindlin-3 which regulates integrins activation. " 05/01/2010 - "Leukocyte adhesion deficiency-III (LAD-III) also called leukocyte adhesion deficiency-1/variant (LAD1v) is a rare congenital disease caused by defective integrin activation of leukocytes and platelets. " 08/22/2013 - "Kindlin-3 is mutated in the rare genetic disorder, leukocyte adhesion deficiency type III, which is characterized by deficient integrin-mediated adhesion of leukocytes and platelets. "
2.	Integrin beta3 (GPIIIa)IBA 01/01/2014 - "Mutations in kindlin-3 result in the rare genetic disorder, leukocyte adhesion deficiency type III (LAD-III), which is characterized by bleeding and recurrent infections due to deficient beta1, beta2 and beta3 integrin activation in platelets and leukocytes. "
3.	Lymphocyte Function-Associated Antigen-1 (LFA-1)IBA 12/01/2001 - "In addition, the stimulated appearance of these activation epitopes is absent in cell lines from patients with leukocyte adhesion deficiency-1/variant that has previously been shown to be defective in LFA-1 activation. "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Here, by using neutrophils from patients with leukocyte adhesion deficiency type III carrying FERMT3 gene mutations, hence lacking the integrin-associated protein kindlin3, we demonstrated that CD47-SIRPα signaling controlled the inside-out activation of the neutrophil CD11b/CD18-integrin and cytotoxic synapse formation in a kindlin3-dependent fashion. "
5.	EpitopesIBA 12/01/2001 - "In addition, the stimulated appearance of these activation epitopes is absent in cell lines from patients with leukocyte adhesion deficiency-1/variant that has previously been shown to be defective in LFA-1 activation. "

Therapies and Procedures

1.	Stem Cell Transplantation 02/15/2022 - "Successful allogeneic stem cell transplantation with a reduced-intensity conditioning in a case of leukocyte adhesion deficiency type III." 05/01/2015 - "Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation."
2.	Hematopoietic Stem Cell Transplantation 01/01/2018 - "Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation." 12/01/2017 - "Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III."