-
Indian Journal of Urology : IJU :... 2021Disseminated BCG infection (BCG-osis) secondary to intravesical BCG given for high-risk non-muscle invasive bladder cancer has been reported. We report the successful...
Disseminated BCG infection (BCG-osis) secondary to intravesical BCG given for high-risk non-muscle invasive bladder cancer has been reported. We report the successful management of two cases of BCG-osis secondary to inadvertent intravenous BCG injection. Both cases are recurrence-free at the follow-up of 12 and 18 months, respectively. There is only one such case reported in English literature so far to the best of our knowledge.
PubMed: 34465959
DOI: 10.4103/iju.IJU_638_20 -
IDCases 2021Patients with primary immunodeficiency disease (PID) are not only vulnerable to mycobacterial disease, but are also more likely to develop adverse events following BCG...
Patients with primary immunodeficiency disease (PID) are not only vulnerable to mycobacterial disease, but are also more likely to develop adverse events following BCG vaccination. These events can range from regional disease (BCGitis) to disseminated disease (BCGosis). Chronic granulomatous disease (CGD), which is characterized by impaired leukocyte phagocytic function, is one of the many inherited PIDs that increase the body's susceptibility to recurrent bacterial and fungal infections. Here, we report a 6-year-old boy with no significant past medical history who presented with progressive lymphadenopathy six years after BCG vaccination. He was later diagnosed with CGD on further evaluation.
PubMed: 33425681
DOI: 10.1016/j.idcr.2020.e01038 -
Annals of Clinical Microbiology and... Mar 2022Post-vaccination BCG disease typically attests to underlying inborn errors of immunity (IEIs), with the highest rates of complications in patients with Mendelian...
BACKGROUND
Post-vaccination BCG disease typically attests to underlying inborn errors of immunity (IEIs), with the highest rates of complications in patients with Mendelian susceptibility to mycobacterial disease (MSMD). However, therapeutic protocols for the management of BCG-osis (disseminated) and persistent BCG-itis (localized) are still controversial.
METHODS
Twenty-four Iranian patients with MSMD (BCG-osis or BCG-itis), followed from 2009 to 2020 in Tehran, were included in the study. Their medical records were retrospectively reviewed for demographics, clinical features, laboratory findings, and molecular diagnosis. The therapeutic protocol sheets were prepared to contain the types and duration of anti-mycobacterial agents.
RESULTS
BCG disease either as BCG-itis (33.3%) or BCG-osis (66.7%) was confirmed in all patients by positive gastric washing test (54.2%), microbial smear and culture (58.3%), or purified protein derivative (PPD) test (4.2%). The duration between BCG-osis onset and MSMD diagnosis was 21.6 months. All except three patients were initiated on second-line anti-mycobacterial agents with either a fluoroquinolone (levofloxacin: 15 mg/kg/day, ciprofloxacin: 20 mg/kg/day, ofloxacin: 15 mg/kg/day), aminoglycoside (amikacin: 10-15 mg/kg/day, streptomycin: 15 mg/kg/day), and/or macrolide (clarithromycin: 15 mg/kg/day) along with oral rifampin (10 mg/kg/day), isoniazid (15 mg/kg/day), and ethambutol (20 mg/kg/day). Three patients showed a clinical response to rifampin, despite in vitro resistance. Fourteen (58.3%) patients received also adjuvant subcutaneous IFN-γ therapy, 50 µ/m every other day. At the end of survey, most patients (n = 22, 91.7%) were alive and two patients died following BCG-osis and respiratory failure.
CONCLUSIONS
We recommend the early instigation of second-line anti-mycobacterial agents in MSMD patients with BCG disease.
Topics: BCG Vaccine; Genetic Predisposition to Disease; Humans; Iran; Mycobacterium Infections; Retrospective Studies
PubMed: 35232430
DOI: 10.1186/s12941-022-00500-y -
Italian Journal of Pediatrics Mar 2012Severe combined immunodeficiency is within a heterogeneous group of inherited defects throughout the development of T- and/or B-lymphocytes. Mutations in...
BACKGROUND
Severe combined immunodeficiency is within a heterogeneous group of inherited defects throughout the development of T- and/or B-lymphocytes. Mutations in recombinase-activating genes 1 or 2 (RAG1/2) represent approximately 10% of all SCID cases. RAG1/2 are essential for V(D)J rearrangement of the B- and T-cell receptors.
OBJECTIVES
The aim of this study was to review clinical, immunological and molecular findings of Turkish SCID patients with RAG1 defects and to draw attention to novel mutations, genotype-phenotype correlations and the high rate of BCG infections within this group.
METHODS
Eleven patients (F/M: 6/5) were included. Molecular, immunological and clinical data were evaluated.
RESULTS
Five patients were classified as T-B-NK + SCID, four patients as T + B-NK + SCID (two of these patients were diagnosed as classical Omenn syndrome) and two patients as T + B + NK + SCID with respect to clinical presentations and immunological data. Mean age of the whole study group, mean age at onset of symptoms and mean age at diagnosis were: 33.0 ± 42.8, 3.1 ± 3.3 and 10.4 ± 13.5 months, respectively. Consanguinity rate was 54%. Some novel mutations were found in RAG1 gene in addition to previously reported mutations. Genotype-phenotype correlation was not significantly apparent in most of the cases. BCG infection was observed in 36.4% of patients (two BCG-osis and two BCG-itis).
CONCLUSION
Epigenetic factors such as compound genetic defects, enviromental factors, and exposure to recurrent infections may modify phenotypical characteristics of RAG deficiencies. Inoculation of live vaccines such as BCG should be postponed until primary immunodeficiency disease is excluded with appropriate screening tests in suspected cases.
Topics: Adult; B-Lymphocytes; BCG Vaccine; Consanguinity; Epigenesis, Genetic; Female; Genes, RAG-1; Genotype; Humans; Male; Mutation; Phenotype; Severe Combined Immunodeficiency; T-Lymphocytes; Turkey
PubMed: 22424479
DOI: 10.1186/1824-7288-38-8 -
Frontiers in Immunology 2021Disseminated infections due to Bacillus Calmette-Guérin (BCG) are unusual and occur mostly in patients with inborn error of immunity (IEI) or acquired...
CONTEXT
Disseminated infections due to Bacillus Calmette-Guérin (BCG) are unusual and occur mostly in patients with inborn error of immunity (IEI) or acquired immunodeficiency. However, cases of secondary BCGosis due to intravesical BCG instillation have been described. Herein, we present a case of severe BCGosis occurring in an unusual situation.
CASE DESCRIPTION
We report one case of severe disseminated BCG disease occurring after hematological malignancy in a 48-year-old man without BCG instillation and previously vaccinated in infancy with no complication. Laboratory investigations demonstrated that he was not affected by any known or candidate gene of IEI or intrinsic cellular defect involving IFNγ pathway. Whole genome sequencing of the BCG strain showed that it was most closely related to the BCG Tice strain, suggesting an unexpected relationship between the secondary immunodeficiency of the patient and the acquired BCG infection.
CONCLUSION
This case highlights the fact that, in addition to the IEI, physicians, as well as microbiologists and pharmacists should be aware of possible acquired disseminated BCG disease in secondary immunocompromised patients treated in centers that administrate BCG for bladder cancers.
Topics: Administration, Intravesical; Antineoplastic Combined Chemotherapy Protocols; Antitubercular Agents; BCG Vaccine; Hematologic Neoplasms; Host-Pathogen Interactions; Humans; Immune Reconstitution; Immunocompromised Host; Male; Middle Aged; Mycobacterium bovis; Opportunistic Infections; Risk Factors; Treatment Outcome; Tuberculosis, Pulmonary; Urinary Bladder Neoplasms
PubMed: 34413849
DOI: 10.3389/fimmu.2021.696268 -
Scandinavian Journal of Immunology Oct 2019CD40 ligand (CD40L) deficiency is a rare but life-threatening primary immunodeficiency caused by mutations in the CD40L gene. Here, we investigated a cohort of 40...
CD40 ligand (CD40L) deficiency is a rare but life-threatening primary immunodeficiency caused by mutations in the CD40L gene. Here, we investigated a cohort of 40 genetically diagnosed CD40L-deficient patients from the Chinese mainland, analysed their clinical and genetic data, and examined CD40L expression, the proportion of T cell subsets, B cell subsets and T follicular helper (Tfh) cells. The aim was to provide a complete picture of CD40L deficiency. Initial presentations of the patient cohort mainly involved recurrent fever (47.5%) and sinopulmonary infection (42.5%). Life-threatening infections (42.5%), caused by various pathogens, were the most serious threats faced by CD40L-deficient patients, while neutropenia (57.5%) remained the most common complication. Opportunistic infections, including Pneumocystis carinii pneumonia and invasive fungal disease associated with Talaromyces marneffei, were also common in the cohort. In addition, seven patients (17.5%) suffered BCGitis/BCGosis, which is a major problem facing a planned immunization programme in China. It was intriguing that reduced IgM levels were observed in 12.5% of patients, while normal or elevated IgA levels were shown in 47.5% of patients. Thirty-seven unique mutations were identified in 40 patients; of these, 10 were novel. Furthermore, we observed a lower percentage of NK cells, Tfh cells, and central memory CD4 T cells, and an extremely small class-switched memory B cell population, in CD40L-deficient patients. Patients who underwent hematopoietic stem cell transplantation experienced better disease remission. Taken together, our data establish the largest database about CD40L deficiency in China and provide genetic, immunologic and clinical information about Chinese CD40L-deficient patients.
Topics: CD40 Ligand; China; Cohort Studies; Fever; Humans; Immunoglobulin M; Immunologic Deficiency Syndromes; Immunologic Memory; Killer Cells, Natural; Lung Diseases, Fungal; Male; Mycobacterium bovis; Pneumocystis carinii; Pneumonia, Pneumocystis; T-Lymphocytes; Talaromyces; Young Adult
PubMed: 31179555
DOI: 10.1111/sji.12798 -
The World Allergy Organization Journal May 2012Primary immunodeficiency diseases (PIDs) are considered rare but are generally assumed to be more common in Middle Eastern countries. The prevalence and characteristics...
BACKGROUND
Primary immunodeficiency diseases (PIDs) are considered rare but are generally assumed to be more common in Middle Eastern countries. The prevalence and characteristics of PIDs are unknown in Oman.
METHODS
Sultan Qaboos University Hospital is the national referral center for PID in Oman during the study period. Patients were diagnosed and classified according to the clinical and laboratory criteria of PID reported by the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. A registry was created, and patient data were analyzed between July 2005 and July 2010.
RESULTS
Over a 5-year period, there were a total of 90 patients, with an estimated prevalence of 4.5 cases per 100,000. The most common form of immunodeficiency was phagocyte disorders (42%), mainly chronic granulomatous disease, followed by predominantly antibody disorders (18%), other well-defined PID syndromes (13%), and combined immunodeficiencies (12%). The median age of onset of symptoms was 9 months. The median age of diagnosis was 24 months. Consanguinity was present in 81% of patients. The most common infectious presentation was pneumonia (42%), followed by deep abscess (27%) and BCGosis (12%). A total of 25% of patients required intravenous immunoglobulins treatment, 4% required gamma interferon therapy, and 11% underwent bone marrow transplantation. Of all PID patients, 90% survived treatment, whereas 10% did not.
CONCLUSIONS
The estimated minimum prevalence of PID in Oman is 4.5 cases per 100,000, with a predominance of phagocyte disorders. Consanguinity is a significant factor; pneumonia and deep abscesses were the main infectious presentations. The overall survival rate was 90%. Strategies are needed to improve the care for PID patients and to increase the awareness among parents and physicians.
PubMed: 23268475
DOI: 10.1097/WOX.0b013e318258830f -
Iranian Journal of Immunology : IJI Sep 2015Major histocompatibility complex (MHC) class II deficiency is a primary immunodeficiency disease characterized by abnormality of MHC class II molecules surface...
Major histocompatibility complex (MHC) class II deficiency is a primary immunodeficiency disease characterized by abnormality of MHC class II molecules surface expression on peripheral blood lymphocytes and monocytes. Clinical manifestations include extreme susceptibility to viral, bacterial, and fungal infections but the immunodeficiency is not as severe as SCID (severe combined immunodeficiency), as evidenced by failure to develop disseminated infection after BCG vaccination. Therefore, MHC II deficiency with BCGosis, that is disseminated BCGitis, is not reported commonly. We report an interesting case of BCGosis after vaccination that was diagnosed to have probable MHC II deficiency.
Topics: Antitubercular Agents; BCG Vaccine; Brain; Female; Genes, MHC Class II; Humans; Immunologic Deficiency Syndromes; Infant; Lung; Mycobacterium bovis; Pneumonia; Tuberculoma
PubMed: 26412640
DOI: No ID Found -
Journal of Clinical Immunology Oct 2023
Topics: Humans; Child; BCG Vaccine; COVID-19; Primary Immunodeficiency Diseases; STAT1 Transcription Factor
PubMed: 37258985
DOI: 10.1007/s10875-023-01510-x -
Urology Case Reports May 2022Intravesical Bacillus Calmette-Guérin (BCG) immunotherapy for non-muscle invasive bladder cancer (NMIBC) has been used as a treatment since 1976. It is effective in...
Intravesical Bacillus Calmette-Guérin (BCG) immunotherapy for non-muscle invasive bladder cancer (NMIBC) has been used as a treatment since 1976. It is effective in reducing disease recurrence and progression, with mostly self-limiting or mild side effects. Serious complications are rare and thought to be either related to systemic BCG infection (BCG-osis) or a systemic inflammatory response, and often require systemic anti-tuberculous therapy. We report a rare case of urethral fistulation leading to perineal BCG-abscess during intravesical BCG immunotherapy for high grade bladder cancer. This ultimately required systemic anti-tuberculous therapy and cessation of intravesical BCG treatment.
PubMed: 35116226
DOI: 10.1016/j.eucr.2022.102003