Features include: Decreased circulating total IgM, Recurrent bronchopulmonary infections, Short stature, and Hypopigmentation of the skin and 3 more.

LAMTOR2 encodes late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 (125 aa). As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Highest expression in Cells Cultured fibroblasts (55.7 TPM) and Cells EBV-transformed lymphocytes (52.4 TPM).

Primary immunodeficiency syndrome due to p14 deficiency is associated with mutations in the LAMTOR2 gene on chromosome 1.

LAMTOR2 is classified as a druggable target (Kinase category) with score 0.0.

Genetic testing for LAMTOR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary immunodeficiency syndrome due to p14 deficiency has been reported in the published literature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for primary immunodeficiency syndrome due to p14 deficiency.

32 publications have been identified in PubMed for primary immunodeficiency syndrome due to p14 deficiency. Research spans Case Report / Case Series (53%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (9%).