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Reticular dysgenesis

An extremely rare and severe form of combined immunodeficiency characterized by congenital agranulocytosis, lymphopenia, lymphoid and thymic hypoplasia, and an absence of cellular and humoral immunity. Affected individuals often die from infections in the neonatal period or early infancy. It is caused by mutations in the adenylate kinase-2 (AK2) gene. OMIM: 267500
Also Known As:
Aleukocytosis; Congenital aleukia; De Vaal Disease; DeVaal disease; Hematopoietic Hypoplasia, Generalized; Immunoerythromyeloid Hypoplasia; Reticular dysgenesia; Severe combined immunodeficiency with leukopenia
Networked: 27 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Ciliary Motility Disorders (Primary Ciliary Dyskinesia)
2. Hemolytic Anemia
3. Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
4. Neutropenia
5. Lymphopenia (Lymphocytopenia)

Experts

1. Notarangelo, Luigi D: 4 articles (12/2017 - 04/2014)
2. Al-Mousa, Hamoud: 3 articles (01/2020 - 10/2013)
3. Cowan, Morton J: 3 articles (12/2017 - 04/2014)
4. Pai, Sung-Yun: 3 articles (12/2017 - 04/2014)
5. Imai, Kohsuke: 2 articles (01/2018 - 01/2017)
6. Oshima, Koichi: 2 articles (01/2018 - 01/2017)
7. Yabe, Hiromasa: 2 articles (01/2018 - 01/2017)
8. Buckley, Rebecca H: 2 articles (12/2017 - 04/2014)
9. Dvorak, Christopher C: 2 articles (12/2017 - 04/2014)
10. Griffith, Linda M: 2 articles (12/2017 - 04/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Reticular dysgenesis:
1. Adenylate KinaseIBA
2. Protein Isoforms (Isoforms)IBA
3. adenylate kinase 2IBA
4. Granulocyte Colony-Stimulating Factor (G-CSF)IBA
5. EnzymesIBA
6. Janus Kinase 3IBA
7. DiamondIBA
8. Cytokine Receptors (Cytokine Receptor)IBA
9. Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF)IBA
10. Purine-Nucleoside PhosphorylaseIBA

Therapies and Procedures

1. Transplantation
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Hematopoietic Stem Cell Transplantation
4. Cell Transplantation
5. X-Ray Film