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Early-onset multiple carboxylase deficiency

Traduction de «early-onset multiple carboxylase deficiency » (Anglais → Néerlandais) :

Early-onset multiple carboxylase deficiency

meervoudige carboxylasedeficiëntie met vroege aanvang


A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterized by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform

neonatale inflammatoire huid- en darmziekte


A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are ofte

syndroom van PLCG2-geassocieerde antilichaamdeficiëntie en immunodysregulatie




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Date index: 2024-07-29
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