Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis

J D Edgar; A E Smyth; J Pritchard; D Lammas; E Jouanguy; R Hague; V Novelli; S Dempsey; L Sweeney; A J Taggart; D O'hara; J L Casanova; D S Kumararatne

doi:10.1067/mpd.2001.117068

Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis

J Pediatr. 2001 Oct;139(4):600-3. doi: 10.1067/mpd.2001.117068.

Authors

J D Edgar¹, A E Smyth, J Pritchard, D Lammas, E Jouanguy, R Hague, V Novelli, S Dempsey, L Sweeney, A J Taggart, D O'hara, J L Casanova, D S Kumararatne

Affiliation

¹ Regional Immunology Service, The Royal Hospitals, Belfast, N Ireland, United Kingdom.

PMID: 11598613
DOI: 10.1067/mpd.2001.117068

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.

Publication types

Case Reports

MeSH terms

BCG Vaccine / adverse effects
Bacillus / isolation & purification
Child, Preschool
Diagnosis, Differential
Female
Histiocytosis, Langerhans-Cell / diagnostic imaging*
Histiocytosis, Langerhans-Cell / pathology*
Humans
Infant
Interferon gamma Receptor
Mycobacterium Infections / diagnosis
Mycobacterium Infections / etiology
Radiography
Receptors, Interferon / deficiency*
Receptors, Interferon / genetics*

Substances

BCG Vaccine
Receptors, Interferon