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Background: Adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is caused by genetic variants that disrupt the function of ADA. In its early-onset form, it is rapidly fatal to infants. Delayed or late-onset ADA-SCID is characterized by insidious progressive immunodeficiency that leads to permanent organ damage or death. Quantification of T-cell receptor excision circles (TRECs) or tandem mass spectrometry (tandem-MS) analysis of dried blood spots (DBSs) collected at birth can identify newborns with early-onset ADA-SCID and are used in screening programs. However, it is not clear whether these analyses can identify newborns who will have delayed or late-onset ADA-SCID before symptoms appear. Objective: We performed a retrospective study to evaluate whether tandem-MS and quantitative TREC analyses of DBSs could identify newborns who had delayed-onset ADA-SCID later in life. Methods: We tested stored DBSs collected at birth from 3 patients with delayed-onset ADA-SCID using tandem-MS (PCT EP2010/070517) to evaluate levels of adenosine and 29-deoxyadenosine and real-time PCR to quantify TREC levels. We also analyzed DBSs from 3 newborns with early-onset ADA-SCID and 2 healthy newborn carriers of ADA deficiency. Results: The DBSs taken at birth from the 3 patients with delayed-onset ADA-SCID had adenosine levels of 10, 25,

We analyzed the magnetic resonance studies of the knee in 80 subjects, 45 men and 35 women with a mean age of 38.9 years, who showed no pathological condition of the joint. Using an imaging visualization software, the sagittal longitudinal axis of the tibia was identified. The angle between this axis and a line tangent to the bone profile of the tibial plateau (bone slope) and to the superior border of the menisci (meniscal slope) were calculated. Thickness of anterior and posterior portion of menisci and underlying cartilage were also measured. The bone slope averaged 8° and 7.7° on the medial and lateral sides, respectively. The mean meniscal slope was 4.1° and 3.3° on the medial and lateral sides, respectively, with a significant difference compared with the bone slope. Menisci and underlying cartilage were significantly thicker in their posterior than their anterior portion (7.6 and 5.2 mm, respectively, in the medial compartment; 8.6 and 5.2 mm, respectively, in the lateral compartment). The presence of cartilage and menisci implies a significant decrease in the posterior tibial slope. In the lateral compartment, the greater the bone slope, the larger the difference between bone and meniscal slope, which means that a marked posterior tilt of the lateral tibial plateau is decreased by the cartilage and meniscus. These findings should be taken into account in planning surgical procedures which affect the slope of the articular tibial surface.

BackgroundChronic granulomatous disease is a rare inherited disorder of the innate immune system. In patients with a clinical history of recurrent or persistent infections, especially infections caused by uncommon species, chronic granulomatous disease should be considered.Case presentationWe report the case of a 5-year-old boy with a presumptive diagnosis of Crohn’s disease with extraintestinal manifestations. Chronic granulomatous disease was suspected in this case after Serratia marcescens was isolated from a skin ulcer culture. Granulomas were confirmed on histology and chronic granulomatous disease was diagnosed.ConclusionThis case emphasizes the importance of high clinical suspicion of an alternative diagnosis of immune deficiency in patients with presumed inflammatory bowel disease and opportunistic infections, especially when disease occurs in early life.

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