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immunodeficiency due to ficolin3 deficiency

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Uniprot Description A disorder characterized by immunodeficiency, recurrent infections, brain abscesses and recurrent warts on the fingers. Affected individuals have normal levels of lymphocytes, normal T-cell responses, and normal antibodies, but a selective deficient antibody response to pneumococcal polysaccharide vaccine.
Mondo Term and Equivalent IDs
MONDO:0013467:  immunodeficiency due to ficolin3 deficiency
Orphanet:331190: 
SCTID:766705006: 
UMLS:C3151226: