Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.

PURPOSE: Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Twenty-two genes with products involved in the production of, or response to, IFN-γ and variants of which underlie MSMD have been identified. However, pathogenic variants of IFNG encoding a defective IFN-γ have been described in only two siblings, who both underwent hematopoietic stem cell transplantation (HCST). METHODS: We characterized a new patient with MSMD by genetic, immunological, and clinical means. Therapeutic decisions were taken on the basis of these findings. RESULTS: The patient was born to consanguineous Turkish parents and developed bacillus Calmette-Guérin (BCG) disease following vaccination at birth. Whole-exome sequencing revealed a homozygous private IFNG variant (c.224 T > C, p.F75S). Upon overexpression in recipient cells or constitutive expression in the patient's cells, the mutant IFN-γ was produced within the cells but was not correctly folded or secreted. The patient was treated for 6 months with two or three antimycobacterial drugs only and then for 30 months with subcutaneous recombinant IFN-γ1b plus two antimycobacterial drugs. Treatment with IFN-γ1b finally normalized all biological parameters. The patient presented no recurrence of mycobacterial disease or other related infectious diseases. The treatment was well tolerated, without the production of detectable autoantibodies against IFN-γ. CONCLUSION: We describe a patient with a new form of autosomal recessive IFN-γ deficiency, with intracellular, but not extracellular IFN-γ. IFN-γ1b treatment appears to have been beneficial in this patient, with no recurrence of mycobacterial infection over a period of more than 30 months. This targeted treatment provides an alternative to HCST in patients with complete IFN-γ deficiency or at least an option to better control mycobacterial infection prior to HCST.

Obsessive compulsive symptoms in mothers of children with atopic dermatitis.

Introduction: Maternal stress, depression and anxiety are associated with atopic dermatitis (AD) in offspring. However, the relationship between maternal obsessive compulsive symptoms (OCS) and AD in their children is unclear. Aim: To investigate whether maternal OCS are associated with AD in offspring. Material and methods: A total of 75 children with AD diagnosed by the paediatric allergist and 76 healthy children and their mothers were included in the study. A Turkish version of the Maudsley Obsessive Compulsive Inventory (MOCI-T) was used to assess OCS of mothers in both groups. Results: Total MOCI-T score and slowness, doubt, and rumination subscale scores were higher in the AD group than in the healthy group (p = 0.007, p = 0.001, p = 0.012 and p = 0.011, respectively) but washing/cleaning and checking subscale scores did not reach a statistically significant difference (p = 0.203 and p = 0.053, respectively). There was no correlation between SCORing Atopic Dermatitis (SCORAD) and MOCI-T/subscales scores. Conclusions: Our study provides evidence for associations between maternal OCS and infantile AD. The findings support recommendations for psychosocial support of mothers of children with AD.

Do traditional fermented foods protect against infantile atopic dermatitis.

BACKGROUND: Environmental and dietary factors during pregnancy may affect development of infantile atopic dermatitis (AD). This study analyzed whether maternal consumption of selected Turkish fermented foods (FF) and other factors during pregnancy affect the development of AD during the first 2 years of life. METHODS: Eighty-four children with physician-diagnosed AD (aged between 2 and 24 months) and mothers, and 56 similarly aged, healthy children and mothers were studied. Physician-administered questionnaires retrospectively surveyed maternal consumption of FF during pregnancy. The intake frequency of 8 selected Turkish FF was classified as either (1) daily or (2) less than daily. Other possible demographic and environmental risk factors were also analyzed. RESULTS: Daily maternal consumption of yogurt, fermented olive, and cheese in the control group was significantly higher than the AD group (P < 0.001, P = 0.017, and P = 0.011, respectively). Exposure to environmental tobacco smoking (ETS) was more common in the AD group than the control group (P = 0.025). In multivariate logistic regression analysis, maternal ETS exposure during pregnancy was associated with increased risk of infantile AD, and daily consumption of yogurt was associated with a reduced risk (odds ratio [OR]: 2.60, 95% confidence interval [CI]: 1.11-6.1, and OR: 0.22, CI: 0.09-0.54, respectively). The diversity of consumed FF during pregnancy was found to have a protective effect against infantile AD (OR: 0.27, CI: 0.14-0.53). CONCLUSIONS: Daily maternal intake of yogurt and diversity of consumed Turkish FF during pregnancy may reduce the risk of AD. Maternal tobacco smoke exposure is associated with increased risk of infantile AD.

Oral Immunotherapy in Food Allergy: Where Are We Now?

Food allergy (FA) has become more prevalent and problematic in the last 2 decades, and it poses important individual, social, and economic burdens. Besides treating reactions induced by accidental exposure and periodic evaluation for acquiring natural tolerance, the primary management approach is still allergen avoidance as a global standard. However, an active therapeutic approach that can raise the reaction threshold or accelerate tolerance is needed. This review aimed to provide an overview and the latest evidence of oral immunotherapy (OIT), which has recently been used in the active treatment of FA. FA immunotherapy, particularly OIT, is gaining considerable interest, and substantial effort has been made to integrate this active treatment into clinical practice. Consequently, growing evidence has been obtained regarding the efficacy and safety of OIT, particularly for allergens such as peanuts, eggs, and milk. However, several issues need to be addressed regarding the availability, safety, and long-term effects of this intervention. In this review, we summarize currently available information regarding tolerance-inducing immune mechanisms of OIT, data on efficacy and safety, gaps in current evidence, and ongoing research to develop new therapeutic molecules in order to enhance safety.