Immunodeficiency due to ficolin3 deficiency

Orpha code: 331190OMIM code: 613860

Definition

Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with <i>Staphylococcus aureus</i> to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.

Disease data
Classification

Disease

ORPHA code
331190
OMIM code
613860
ICD10 code
D84.1
ICD11 code
-

No additional description.

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