Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients

Abstract

In all patients the percentage of activated lymphocytes with surface expression of IL12Rb1 was <1% indicating that it is an effective method for the screening of these patients. Three recurrent mutations were responsible for 85% of our families. Prognosis was good in patients, in whom specific antimicrobial therapy was given before dissemination occurs, as well as prophylactic antimicrobial treatment when needed and IFN-γ therapy for severe infectious episodes.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

“…Two of the patients (P2 and P3) also presented recurrent invasive salmonellosis and a third (P1) had gastroenteritis caused by Salmonella . In P2, salmonellosis was associated with leukocytoclastic vasculitis (Figure 1B), a feature previously reported in eight other patients with IL-12Rβ1 deficiency and Salmonella infections [3, 4, 9, 14, 18, 22, 47–49]. Three patients (P1, P2, and P6) experienced fungal disease, mostly mucocutaneous infection with Candida spp.…”

Mendelian susceptibility to mycobacterial disease: 2014–2018 update

“…Since the discovery of its first genetic etiology in 1996, MSMD has been reported and a causal genetic lesion described in 501 individuals from 356 kindreds originating from 57 countries on five continents (Figure a). Over this period, the genetic dissection of MSMD in these patients has revealed this condition to be caused by inborn errors of interferon (IFN)‐γ immunity . These findings confirm that IFN‐γ, first described in 1965 as an antiviral IFN, is actually the macrophage‐activating factor, as shown in 1983 .…”

“…Clinical manifestations are, therefore, highly variable. Macrophage activation syndrome or vasculitis may occur in rare cases, probably as a consequence of uncontrolled infection. Since the discovery of its first genetic etiology in 1996, MSMD has been reported and a causal genetic lesion described in 501 individuals from 356 kindreds originating from 57 countries on five continents (Figure a).…”

Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies

“…Because prolonged and aggressive antituberculosis treatment is essential for the patients with IL-12Rβ1 deficiency. 8,9 Our patient was also diagnosed as IL-12Rβ1 deficiency after a BCG lymphadenitis, and antituberculosis treatment with three drugs was initiated.…”