Description

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


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