title: Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis.
abstract: Two patients who were initially given a diagnosis of Langerhans' cell histiocytosis on the basis of the clinical, radiologic, and biopsy findings had mycobacterial infection subsequently identified. The correct diagnosis of dominant partial interferon-gamma receptor deficiency was established.
authors.affiliation: Regional Immunology Service, The Royal Hospitals, Belfast, N Ireland, United Kingdom.
authors.forename: J D
authors.initials: JD
authors.lastname: Edgar
authors.forename: A E
authors.initials: AE
authors.lastname: Smyth
authors.forename: J
authors.initials: J
authors.lastname: Pritchard
authors.forename: D
authors.initials: D
authors.lastname: Lammas
authors.forename: E
authors.initials: E
authors.lastname: Jouanguy
authors.forename: R
authors.initials: R
authors.lastname: Hague
authors.forename: V
authors.initials: V
authors.lastname: Novelli
authors.forename: S
authors.initials: S
authors.lastname: Dempsey
authors.forename: L
authors.initials: L
authors.lastname: Sweeney
authors.forename: A J
authors.initials: AJ
authors.lastname: Taggart
authors.forename: D
authors.initials: D
authors.lastname: O'hara
authors.forename: J L
authors.initials: JL
authors.lastname: Casanova
authors.forename: D S
authors.initials: DS
authors.lastname: Kumararatne
mesh_terms: D001500:BCG Vaccine / Q000009:adverse effects; D001407:Bacillus / Q000302:isolation & purification; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006646:Histiocytosis, Langerhans-Cell / Q000000981:diagnostic imaging* / Q000473:pathology*; D006801:Humans; D007223:Infant; D009164:Mycobacterium Infections / Q000175:diagnosis / Q000209:etiology; D011859:Radiography; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics*; D000096743:Interferon gamma Receptor
chemical_list: D001500:BCG Vaccine; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor