Manish Butte

Primary immunodeficiency diseases and Bacillus Calmette-Guérin (BCG)-vaccine-derived complications: a systematic review.

J Allergy Clin Immunol Pract. 2020 Jan 29;:

Authors: Fekrvand S, Yazdani R, Olbrich P, Gennery A, Rosenzweig SD, Condino-Neto A, Azizi G, Rafiemanesh H, Hassanpour G, Rezaei N, Abolhassani H, Aghamohammadi A

Abstract
BACKGROUND: Bacillus Calmette-Guérin (BCG) vaccine is a live attenuated bacterial vaccine derived from Mycobacterium bovis, which is mostly administered to neonates in regions where tuberculosis (TB) is endemic. Adverse reactions following BCG vaccination are rare, however immunocompromised individuals and in particular patients with primary immunodeficiencies (PIDs) are prone to develop vaccine-derived complications.
OBJECTIVE: We aimed to systematically review demographic, clinical, immunologic and genetic data of PIDs that present with BCG vaccine complications. Moreover, we performed a meta-analysis aiming to determine the BCG-vaccine complications rate for PID patients.
METHODS: We conducted electronic searches on Embase, Web of Science, PubMed and Scopus (1966 to September 2018) introducing terms related to PIDs, BCG vaccination, and BCG vaccine complications. Studies with human subjects with confirmed PID, BCG vaccination history and vaccine-associated complications (VAC) were included.
RESULTS: A total of 46 PIDs associated with BCG-VAC were identified. Severe combined immunodeficiency was the most common (466 cases) and also showed the highest BCG-related mortality. Most BCG infection cases in PID patients were reported from Iran (n=219, 18.8%). The overall frequency of BCG-VAC in the included 1691 PID cases was 41.5% (95% CI: 29.9, 53.2; I2=98.3%), based on the results of the random effect method used in this meta-analysis. Patients with Mendelian susceptibility to mycobacterial diseases had the highest frequency of BCG-VAC with a pooled frequency of 90.6% (95% CI: 79.7, 1.0; I2=81.1%).
CONCLUSIONS: Several PID entities are susceptible to BCG-VAC. Systemic neonatal PID screening programs may help to prevent a substantial amount of BCG vaccination complications.

PMID: 32006723 [PubMed – as supplied by publisher]

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Towards European harmonisation of healthcare for patients with rare immune disorders: outcome from the ERN RITA registries survey.

Orphanet J Rare Dis. 2020 Jan 30;15(1):33

Authors: Papa R, Cant A, Klein C, Little MA, Wulffraat NM, Gattorno M, Ruperto N, ERN RITA Council

Abstract
The Rare Immunodeficiency, AutoInflammatory and AutoImmune Disease (RITA) network is a European Research Network (ERN) that brings together the leading centres for rare immune disorders. On April 2018 an online survey was sent to all RITA members in order to facilitate the harmonization of data collection in rare immune disorders registries. Currently, as many as 52 different registries collect data on rare immune disorders, of whom 30 (58%) are dedicated primarily to autoimmune diseases, 15 (29%) to primary immunodeficiencies and 12 (23%) to autoinflammatory disorders. Improving data on patient safety, outcome, and quality of life measures is warranted to unfold the full potential of RITA registries.

PMID: 32000824 [PubMed – in process]

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ILEOCOLONIC LYMPHONODULAR HYPERPLASIA IN CHILDREN; RELATED WITH VARIETY OF ETIOLOGIES RANGING FROM FOOD HYPERSENSITIVITY TO FAMILIAL MEDITERRANEAN FEVER.

Med Princ Pract. 2020 Jan 31;:

Authors: Cakir M, Sag E, Saygin I, Orhan F

Abstract
OBJECTIVE: We aimed to share our experience about the demographics and clinical characteristics and outcome of lymphonodular hyperplasia (LNH) in children.
SUBJECTS AND METHODS: The study included the children that performed colonoscopy between January 2015 and May 2018 (n=361). Demographics, treatment modalities and outcomes of the patients with LNH were recorded.
RESULTS: LNH was found in 66 patients (18.3%, %59.1 male, mean age: 8.6 ± 5.96 years). We found that the etiologic factors of LNH was food hypersensitivity (FH) in 25 (37.8%), nonspecific colitis in 12 (18.2%), irritable bowel syndrome in 10 (15.2%), familial Mediterranean fever in seven (10.6%), primary immunodeficiency in four (6.1%) patients. Intestinal dysmotility, oxyuriasis and Giardiasis in one (1.5%) patient. Additionally, in genetic analysis of patients with idiopathic LNH (n=4), we detected heterozygote MEFV mutations in all. Cow’s milk and egg (25%) were most common allergens in patients with FH. Symptoms of all patients (n=25) were improved after elimination diet.
CONCLUSIONS: LNH is a common finding in pediatric colonoscopies with variety of etiologies ranging from FH, familial Mediterranean fever to immunodeficiencies.

PMID: 32000163 [PubMed – as supplied by publisher]

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Retrospective Analysis of a New York Newborn Screen Severe Combined Immunodeficiency Referral Center.

J Clin Immunol. 2020 Jan 29;:

Authors: Gans MD, Gavrilova T

Abstract
In 2010, the New York State (NYS) Newborn Screen (NBS) Program added the T cell receptor excision circle (TREC) assay to screen for severe combined immunodeficiency disorder (SCID). The objective of this study was to perform a retrospective chart review of 199 infants referred to a single institution for abnormal TREC on NYS NBS between 2010 and 2017. Statistical analysis included analysis of variance, logistic regression models, chi-square, and linear mixed models. One hundred ninety-nine infants were found to have a TREC value of fewer than 200 copies/μL on NYS NBS. Infants were stratified as primary immunodeficiency (PID) (n = 54), immunocompetent (n = 133), lost to follow-up (n = 8), or deceased (n = 4). PID included SCID (n = 3), DiGeorge (n = 6), idiopathic lymphopenia (IL) (n = 44), and other syndromes associated with lymphopenia (n = 3). The 3 SCID cases were identified and brought to treatment, although all experienced significant infections. The study population was found to be predominately non-Hispanic, African American, and male. There was a difference in the average TREC values among those with immunocompetence (83 copies/μL), IL (81 copies/μL), and PID (40 copies/μL) (p < 0.05). On follow-up of 40 patients with IL, patients typically did not have severe infections during first few years of life. This study demonstrates that TREC value can be used to stratify infants for further confirmatory testing to exclude PID. Risk factors, such as stressful prenatal/postnatal conditions, prematurity, race, and sex may affect TREC value but cannot explain all causes of lymphopenia. This study may assist providers in risk stratifying the likelihood of PID with an abnormal TREC and determining the extent of the initial work up that is necessary at the time of a newborn's presentation.

PMID: 31997108 [PubMed – as supplied by publisher]

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BCG: a vaccine with multiple faces.

Hum Vaccin Immunother. 2020 Jan 29;:1-10

Authors: Yamazaki-Nakashimada MA, Unzueta A, Berenise Gámez-González L, González-Saldaña N, Sorensen RU

Abstract
BCG has been recommended because of its efficacy against disseminated and meningeal tuberculosis. The BCG vaccine has other mechanisms of action besides tuberculosis protection, with immunomodulatory properties that are now being discovered. Reports have shown a significant protective effect against leprosy. Randomized controlled trials suggest that BCG vaccine has beneficial heterologous (nonspecific) effects on mortality in some developing countries. BCG immunotherapy is considered the gold standard adjuvant treatment for non-muscle-invasive bladder cancer. BCG vaccine has also been tested as treatment for diabetes and multiple sclerosis. Erythema of the BCG site is recognized as a clinical clue in Kawasaki disease. BCG administration in the immunodeficient patient is associated with local BCG disease (BCGitis) or disseminated BCG disease (BCGosis) with fatal consequences. BCG administration has been associated with the development of autoimmunity. We present a brief review of the diverse facets of the vaccine, with the discovery of its new modes of action providing new perspectives on this old, multifaceted and controversial vaccine.

PMID: 31995448 [PubMed – as supplied by publisher]

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Making a Diagnosis of Common Variable Immunodeficiency: A Review.

Cureus. 2020 Jan 20;12(1):e6711

Authors: Ghafoor A, Joseph SM

Abstract
Common variable immunodeficiency (CVID) is a condition that inhibits the function of the immune system, making those with the condition more susceptible to infection from external pathogens, including bacteria and, less often, viruses. The immune disorder is marked by low immunoglobulin levels of immunoglobulin G (IgG) and IgA as well as IgM in some patients. These immune abnormalities typically result in recurrent sinopulmonary infections and can result in serious complications such as pneumonia and chronic lung disease. Other manifestations include poor vaccine response and defective antibodies in a patient’s immune system. The disorder affects approximately one in 25,000 to one in 50,000 individuals worldwide, with the condition varying across different populations. While the underlying mechanism of disease activity remains poorly understood, only 10% of cases are known to have an underlying genetic link and approximately 25% of patients also have an autoimmune disorder. CVID commonly presents in individuals in their twenties or thirties but can present at any time between childhood through adulthood, with mortality dependent on the severity of illness and frequency of recurrent infections. Potential life-threatening consequences of CVID include malignancies, enteropathy, and autoimmune manifestations. Treatment can help alleviate symptoms and prevent continued recurrent infections and serious complications. However, the lack of awareness among primary care physicians (PCPs) makes the condition difficult to diagnose and manage. In this review article, we will provide insight into the clinical manifestations as well as the diagnosis and management of CVID. This will provide clinical practitioners with tools to recognize the disease earlier on to improve patient outcomes and prevent serious complications. We will also afford a better understanding of genetic components tied to CVID and new research efforts.

PMID: 31993276 [PubMed]

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[Enteroviral infections in adults treated with rituximab: A new case of chronic meningitis and myofasciitis and literature review].

Rev Med Interne. 2020 Jan 21;:

Authors: Maillet F, Pineton De Chambrun M, Monzani Q, Mercy G, Schuffenecker I, Mirand A, Deback C, Charlotte F, Fourniols E, Mathian A, Amoura Z

Abstract
INTRODUCTION: Chronic enterovirus infections can occur in primary immunodeficiency with hypogammaglobulinemia. They usually associate meningitis and myofasciitis. Such infections have also been described in adults with rituximab-induced hypogammaglobulinemia.
CASE REPORT: We report the case of a 33-year-old woman who was given rituximab for immune thrombocytopenia and developed rituximab-induced hypogammaglobulinemia (IgG 4.4g/L). One year after the last rituximab infusion, she developed lower limbs myofasciitis, followed two months later by a chronic lymphocytic meningitis. PCR in the serum and the cerebrospinal fluid at the time of the meningitis and the myofasciitis were positive to the same enterovirus (echovirus 11) while it was negative in the fascia biopsy. Under treatment with intravenous immunoglobulins, all symptoms and laboratory abnormalities improved and enterovirus PCR became negative.
CONCLUSION: We report a case of chronic enterovirus infection associating meningitis and myofasciitis in an adult with rituximab-induced hypogammaglobulinemia. Outcome was favorable under treatment with intravenous immunoglobulins.

PMID: 31980187 [PubMed – as supplied by publisher]

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A Case of Orthognathic Surgical Treatment in a Patient With Hyperimmunoglobulin E Syndrome.

J Craniofac Surg. 2020 Jan 20;:

Authors: Dibbs R, Raghuram A, Roy MG, Kaufman MG, Monson LA

Abstract
Autosomal-dominant hyperimmunoglobulin E syndrome (HIES), or Job syndrome, is a rare, multisystem, primary immunodeficiency disorder. Additionally, patients may also suffer from connective tissue, dental, and bone malformations. While current management of HIES is directed at prophylactic antibiotics to prevent infections, there is limited work describing surgical considerations for these patients, particularly with respect to hardware placement. Here we report a case of a patient with HIES who underwent orthognathic surgery for maxillary advancement and mandibular setback to address his severe class III malocclusion. The patient’s postoperative course was complicated by significant infection, requiring multiple operations and ultimately, hardware removal after bone healing. Although this patient ultimately had a good outcome, the role of orthognathic surgery with implant placement in patients with HIES should be approached with caution and careful consideration.

PMID: 31977682 [PubMed – as supplied by publisher]

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