Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as mycobacteria, attenuated
Mycobacterium ...bovis
-Bacillus Calmette–Guérin (BCG) vaccine strains, and environmental mycobacteria in otherwise healthy individuals. Retrospective study reviewed the clinical, immunological, and genetic characteristics of patients with MSMD in Mexico. Overall, 22 patients diagnosed with MSMD from 2006 to 2021 were enrolled: 14 males (64%) and eight females. After BCG vaccination, 12 patients (70%) developed BCG infection. Furthermore, 6 (22%) patients developed bacterial infections mainly caused by
Salmonella
, as what is described next in the text is fungal infections, particularly Histoplasma. Seven patients died of disseminated BCG disease. Thirteen different pathogenic variants were identified in
IL12RB1
(
n
= 13),
IFNGR1
(
n
= 3), and
IFNGR2
(
n
= 1) genes. Interleukin-12Rβ1 deficiency is the leading cause of MSMD in our cohort. Morbidity and mortality were primarily due to BCG infection.
The absence of an appropriate central tolerance in primary immunodeficiencies favors proliferation of autoreactive lymphocyte clones, causing a greater incidence of autoimmunity. Del 22q11.2 syndrome ...presents an increased incidence of allergic and autoimmune diseases. One of the most relevant and frequent immune manifestations is autoimmune thrombocytopenia. We present the case of a pediatric patient with autoimmune thrombocytopenia due to the immunological dysregulation observed in partial DiGeorge syndrome.
Purpose
Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by pathogenic variants of genes encoding the enzyme complex NADPH oxidase. In countries where tuberculosis (TB) is ...endemic and the
Bacillus
Calmette–Guérin (BCG) vaccine is routinely administered, mycobacteria are major disease-causing pathogens in CGD. However, information on the clinical evolution and treatment of mycobacterial diseases in patients with CGD is limited. The present study describes the adverse reactions to BCG and TB in Mexican patients with CGD.
Methods
Patients with CGD who were evaluated at the Immunodeficiency Laboratory of the National Institute of Pediatrics between 2013 and 2024 were included. Medical records were reviewed to determine the clinical course and treatment of adverse reactions to BCG and TB disease.
Results
A total of 79 patients with CGD were included in this study. Adverse reactions to BCG were reported in 55 (72%) of 76 patients who received the vaccine. Tuberculosis was diagnosed in 19 (24%) patients. Relapse was documented in three (10%) of 31 patients with BGC-osis and six (32%) of 19 patients with TB, despite antituberculosis treatment. There was no difference in the frequency of BCG and TB disease between patients with pathogenic variants of the X-linked C
YBB
gene
versus
recessive variants.
Conclusions
This report highlights the importance of considering TB in endemic areas and BCG complications in children with CGD to enable appropriate diagnostic and therapeutic approaches to improve prognosis and reduce the risk of relapse.
Background Severe combined immunodeficiency (SCID) is a syndrome characterized by profound T-cell deficiency. BCG vaccine is contraindicated in patients with SCID. Because most countries encourage ...BCG vaccination at birth, a high percentage of patients with SCID are vaccinated before their immune defect is detected. Objectives We sought to describe the complications and risks associated with BCG vaccination in patients with SCID. Methods An extensive standardized questionnaire evaluating complications, therapeutics, and outcomes regarding BCG vaccination in patients given a diagnosis of SCID was widely distributed. Summary statistics and association analysis was performed. Results Data on 349 BCG-vaccinated patients with SCID from 28 centers in 17 countries were analyzed. Fifty-one percent of the patients had BCG-associated complications, 34% disseminated and 17% localized (a 33,000- and 400-fold increase, respectively, over the general population). Patients receiving early vaccination (≤1 month) showed an increased prevalence of complications ( P = .006) and death caused by BCG-associated complications ( P < .0001). The odds of experiencing complications among patients with T-cell numbers of 250/μL or less at diagnosis was 2.1 times higher (95% CI, 1.4-3.4 times higher; P = .001) than among those with T-cell numbers of greater than 250/μL. BCG-associated complications were reported in 2 of 78 patients who received antimycobacterial therapy while asymptomatic, and no deaths caused by BCG-associated complications occurred in this group. In contrast, 46 BCG-associated deaths were reported among 160 patients treated with antimycobacterial therapy for a symptomatic BCG infection ( P < .0001). Conclusions BCG vaccine has a very high rate of complications in patients with SCID, which increase morbidity and mortality rates. Until safer and more efficient antituberculosis vaccines become available, delay in BCG vaccination should be considered to protect highly vulnerable populations from preventable complications.
Abstract only
Introduction:
Spectral CT (SCT) is a valuable tool for assessing coronary anatomy and myocardial damage. Iodine distribution maps (IDM) obtained by SCT serve as surrogates for ...first-pass myocardial perfusion, exhibiting reduced iodine uptake in ischemic areas and increased uptake in hyperemic areas due to inflammatory injury. Hypothesis: We aimed to determine if SCT data analysis can detect regional differences in first-pass myocardial perfusion reflecting inflammatory injury in acute myocarditis (AM) patients.
Methods:
We retrospectively searched for acute myocarditis patients admitted to our center who also underwent SCT angiography to rule out CAD. Spectral images (40 keV monoenergetic images and IDM) from a dual-layer CT scanner (Philips Spectral CT 7500) were analyzed using a perfusion tool developed by Philips Research. LV myocardium was segmented following the AHA-17 model, and CT number (HU) and iodine density values (mg/ml) were quantified. Data were normalized using blood pool values. Healthy controls were included for comparison and differences were assessed with a one-way ANOVA.
Results:
Six patients with myocarditis (median age: 57 IQR 30-65; table 1) and 3 controls (median age: 50 IQR: 47.5-59.5) were analyzed. Myocarditis patients (figure 1) showed higher normalized median iodine density values (ratio 0.13 vs. 0.11, p<0.001) and similar differences in 40 keV monoenergetic images (ratio 0.16 vs. 0.13, p=0.005).
Conclusions:
Spectral CT data analysis can detect first-pass myocardial perfusion differences in acute myocarditis patients, likely reflecting hyperemia. Further research is needed to evaluate the clinical benefits of SCT in this context.
Selective antibody deficiency syndrome (SAD), is a primary immunodeficiency in which immunoglobulin levels remain normal, but there is a reduced response to polysaccharide antigens after vaccination. ...SAD is recognized by the International Union of Immunology Societies as a primary immunodeficiency of unknown genetic cause. Patients with SAD are highly susceptible to severe respiratory tract infections with encapsulated bacteria. The infections found in SAD are similar to other antibody deficiencies; patients often present with recurrent upper and lower respiratory tract infections, otitis media, and sinusitis. The treatment of this pathology is based on preventing recurrent infections by known microorganisms, and in the case of serious infections, the use of intravenous or subcutaneous immunoglobulin.
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