Primary Immunodeficiency Syndrome Due to Lamtor2 Deficiency D82.8

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.

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.

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.

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3. Zamani R et al (2021) Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach. Allergol Immunopathol (Madr) 49:178-190.