Clinical Features of Dominant and Recessive Interferon γ Receptor 1 Deficiencies

S.E. Dorman, C. Picard, D.A. Lammas, K. Heyne, J.T. Van Dissel, R. Baretto, S. Rosenzweig, M. Newport, M. Levin, J. Roesler, J Edgar, Y. Camcioğlu, J.D. Siegel, M. Kanariou, V.M. Novelli, G. Davies, J.D. Triesenberg, P. Vesterhus, O. Ramirez, W. FriedrichC. Rietschel, J- Dommergues, P. Bordigoni, E. Koscielnak, M. Brai, V.A. Oxelius, J. Church, R.W. Hostoffer, D. Davies, P. Wood, D.S. Kumararatne, J- Casanova, S.M. Holland

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318 Citations (Scopus)


Background Interferon ? receptor 1 (IFN? R1) deficiency is a primary immunodeficiency with allelic dominant and recessive mutations characterised clinically by severe infections with mycobacteria. We aimed to compare the clinical features of recessive and dominant IFN?R1 deficiencies. Methods We obtained data from a large cohort of patients worldwide. We assessed these people by medical histories, records, and genetic and immunological studies. Data were abstracted onto a standard form. Findings We identified 22 patients with recessive complete IFN?R1 deficiency and 38 with dominant partial deficiency. BCG and environmental mycobacteria were the most frequent pathogens. In recessive patients, 17 (77%) had environmental mycobacterial disease and all nine BCG-vaccinated patients had BCG disease. In dominant patients, 30 (79%) had environmental mycobacterial disease and 11 (73%) of 15 BCG-vaccinated patients had BCG disease. Compared with dominant patients, those with recessive deficiency were younger at onset of first environmental mycobacterial disease (mean 3·1 years [SD 2·5] vs 13·4 years [14·3], p=0·001), had more mycobacterial disease episodes (19 vs 8 per 100 person-years of observation, p=0·0001), had more severe mycobacterial disease (mean number of organs infected by Mycobacterium avium complex 4·1 [SD 0·8] vs 2·0 [1·1], p=0·004), had shorter mean disease-free intervals (1·6 years [SD 1·4] vs 7·2 years [7·6], p
Original languageEnglish
Pages (from-to)2113-2121
Number of pages9
JournalThe Lancet
Issue number9451
Publication statusPublished - 11 Dec 2004

ASJC Scopus subject areas

  • Medicine(all)


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