LAMTOR2 deficiency is a rarecause of primary immunodeficiency.
Chromosome: 1q22
Gene product: LAMTOR2, late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Also referred to as p14 and MAPBPIP (MAPBP-Interacting Protein)
Role: in endosomal biogenesis
Inheritance: autosomal recessive
Clinical features:
(1) onset of infections during infancy
(2) cutaneous infections
(3) oral ulcers and aphthous stomatitis
(4) otitis media
(5) recurrent pneumonia
(6) loss of permanent teeth in childhood
Laboratory features:
(1) severe congenital neutropenia
(2) reduced numbers of memory B cells
(3) cytotoxic T-cell dysfunction
(4) low serum IgM
(5) mild anemia
Common pathogens:
(1) Streptococcus pneumoniae
(2) Escherichia coli
(3) Pseudomonas aeruginosa
