Bohn et al (2007) described 4 of 15 siblings from a Caucasian family who exhibited a characteristic clinical phenotype associated with short stature, albinism, coarse facial features, and recurrent bronchopulmonary infections caused by Streptococcus pneumoniae.
Primary Immunodeficiency Syndrome Due to Lamtor2 Deficiency D82.8
DefinitionThis section has been translated automatically.
EtiopathogenesisThis section has been translated automatically.
Bohn et al. (2007) performed a genome-wide linkage analysis and found significant linkage on chromosome 1q21-q23 between D1S498 and D1S1153. No mutation was detected when 19 genes were sequenced in the maximum possible linkage region.
LaboratoryThis section has been translated automatically.
Affected individuals had low peripheral neutrophil granulocytes (<500 per microliter), although neutrophil maturation in the bone marrow was intact. Compared with healthy siblings, CD8(+) T cytotoxic cells of affected individuals showed decreased cytotoxic activity. Structural and functional analyses of the patients' immune cells and melanocytes suggested abnormal maturation and function of specialized lysosomes in cytotoxic T cells, melanocytes, and neutrophil granulocytes.
LiteratureThis section has been translated automatically.
- Bohn G et al. (2007) A novel human primary immunodeficiency syndrome caused by deficiency of endosomal adaptor protein p14. Nature Med 13: 38-45.
- Schiefermeier N et al (2014) The late endosomal p14-MP1 (LAMTOR2/3) complex regulates focal adhesion dynamics during cell migration. J Cell Biol 205:525-540.
- Zamani R et al (2021) Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach. Allergol Immunopathol (Madr) 49:178-190.