Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis.
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.
Edgar
J D
JD
Regional Immunology Service, The Royal Hospitals, Belfast, N Ireland, United Kingdom.
Smyth
A E
AE
Pritchard
J
J
Lammas
D
D
Jouanguy
E
E
Hague
R
R
Novelli
V
V
Dempsey
S
S
Sweeney
L
L
Taggart
A J
AJ
O'hara
D
D
Casanova
J L
JL
Kumararatne
D S
DS
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
D001500:BCG Vaccine; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor