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Primary immunodeficiency syndrome due to p14 deficiency

MONDO:0012559

Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.

Also known as: primary immunodeficiency syndrome due to LAMTOR2 deficiency, primary immunodeficiency syndrome with short stature, immunodeficiency due to defect in MAPBP-interacting PROTEIN, immunodeficiency due to defect in Mapbp-interacting Protein

0 clinical trials for this condition and its sub-types, 0 tagged with Primary immunodeficiency syndrome due to p14 deficiency itself.

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↑ Constitutional neutropenia (28)

Including sub-types (0) Tagged with Primary immunodeficiency syndrome due to p14 deficiency (0)

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