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Birbeck granule deficiency

MedGen UID:: 462007
•Concept ID:: C3150657
•: Disease or Syndrome

Synonym:	BIRBECK GRANULES, ABSENCE OF

Gene (location): Gene(s) directly associated with this condition or phenotype.	CD207 (2p13.3)

Monarch Initiative:	MONDO:0013251
OMIM®:	613393

Recent clinical studies

Diagnosis

A 13-month-old child with chronic diarrhea, weight loss, and tachypnea.

Knutsen AP, Goodman GM
Ann Allergy 1993 Oct;71(4):352-6. PMID: 8214798

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