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Tuberculous meningitis, a severe form of tuberculosis caused by Mycobacterium tuberculosis (BK), remains a major public health challenge worldwide. In addition to the complex mechanisms of the innate and adaptive immune response against Mycobacterium tuberculosis, there is a crucial genetic dimension to consider. Individuals with specific genetic variations may have altered immune responses that make them more susceptible to this form of tuberculosis. Genetic mutations in genes encoding surface receptors, adaptor proteins, kinases, transcription factors, nucleic receptors and other molecules involved in cellular interactions and molecular mechanisms have been associated with susceptibility to TB. Understanding the molecular mechanisms of immune interactions in host response to Mycobacterium tuberculosis is crucial to understanding the genetic dimension in susceptibility to tuberculosis, particularly its dreaded form of tuberculous meningitis. The aim of this update is to explore in details the key interactions between the main players in innate and adaptive immunity during infection with Mycobacterium tuberculosis, with particular emphasis on the genetic factors associated with susceptibility to tuberculosis, especially its dreaded form of tuberculous meningitis.
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Predisposición Genética a la Enfermedad , Mycobacterium tuberculosis , Tuberculosis Meníngea , Humanos , Tuberculosis Meníngea/genética , Tuberculosis Meníngea/inmunología , Mycobacterium tuberculosis/inmunología , Inmunidad Innata/genética , Inmunidad Adaptativa/genéticaRESUMEN
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) induces pneumonia and acute respiratory failure in Coronavirus Disease 2019 (COVID-19) patients with inborn errors of immunity to type I interferon (IFN-I). The impact of SARS-CoV-2 infection varies widely, ranging from mild respiratory symptoms to life-threatening illness and organ failure, with a higher incidence in men than in women. Approximately 3 to 5% of critical COVID-19 patients under 60 and a smaller percentage of elderly patients exhibit genetic defects in IFN-I production, including X-chromosome-linked TLR7 and autosomal TLR3 deficiencies. Around 15 to 20% of cases over 70 years old, and a smaller percentage of younger patients, present with preexisting autoantibodies neutralizing type I interferons. Additionally, innate errors affecting the control of the response to type I interferon have been associated with pediatric multisystem inflammatory syndrome (MIS-C). Several studies have described rare errors of immunity, such as XIAP deficiency, CYBB, SOCS1, OAS1/2, and RNASEL, as underlying factors in MIS-C susceptibility. However, further investigations in expanded patient cohorts are needed to validate these findings and pave the way for new genetic approaches to MIS-C. This review aims to present recent evidence from the scientific literature on genetic and immunological abnormalities predisposing individuals to critical SARS-CoV-2 infection through IFN-I. We will also discuss multisystem inflammatory syndrome in children (MIS-C). Understanding the immunological mechanisms and pathogenesis of severe COVID-19 may inform personalized patient care and population protection strategies against future serious viral infections.
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INTRODUCTION: Morocco has made remarkable progress in the fight against tuberculosis, but the Covid-19 pandemic has affected tuberculosis control worldwide, with notable fluctuations in tuberculosis epidemiology during and after the pandemic. AIM: To describe the impact of the Covid-19 pandemic on the rate of hospitalization for tuberculosis and its different localizations in children. METHODS: We conducted a retrospective study based on the analysis of medical records of TB patients hospitalized within the Children's Hospital in Casablanca, during the periods before (2018-2019), during (2020) and after (2021-2022) Covid-19 quarantine. RESULTS: Throughout the study period (2018-2022), the total number of patients hospitalized in our department was 7390, including 283 children were hospitalized for tuberculosis, with a mean age of 6 years. Before the Covid-19 pandemic, the average number of tuberculosis cases was 49 per year, of which the percentage of pulmonary tuberculosis was 32% and extra-pulmonary tuberculosis 68%. The number of cases was 23 per year during the quarantine period, with a percentage of pulmonary tuberculosis of 26% and extra-pulmonary tuberculosis of 74%. After the quarantine period, this number rose to 81 cases per year, of which 21% were pulmonary tuberculosis and 79% extrapulmonary tuberculosis (pleural tuberculosis was predominant in 44.1% of cases). CONCLUSION: These results are consistent with data published by the World Health Organization, and with the findings of another study we carried out on the impact of COVID-19 on hospital admissions for acute lower respiratory tract infections. It is very likely that the reduction in the number of tuberculosis cases during the quarantine period is due to social distancing, which leads to a reduction in the transmission of tuberculosis between people as well as to the disruption of the national tuberculosis control program in Morocco, when positive cases are identified.
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COVID-19 , Hospitalización , Tuberculosis , Humanos , COVID-19/epidemiología , Niño , Hospitalización/estadística & datos numéricos , Estudios Retrospectivos , Marruecos/epidemiología , Femenino , Masculino , Tuberculosis/epidemiología , Preescolar , Adolescente , Cuarentena , Tuberculosis Pulmonar/epidemiología , Lactante , Hospitales Pediátricos/estadística & datos numéricosRESUMEN
Introduction: this study aimed to investigate the prevalence and management of food allergies (FA) and drug allergies (DA) in Morocco. Sparse and conflicting epidemiological data exist on the exact prevalence of allergies in the country. The rise in allergies can be attributed to various factors. Methods: the study analyzed data from patients with suspected FA and DA who sought medical attention. Statistical tests were used to analyze the data, percentages were computed for qualitative variables, and for quantitative variables, medians or means accompanied by standard deviations (SD) were calculated. The Chi-square test was employed to assess categorical variables. A p-value < 0.05 was considered statistically significant. Results: Cow's milk was the most reported food allergen (58.2%), followed by egg and nuts (23.4% and 12.1%, respectively). The most affected age group was children under 5 years. Antibiotics were the leading cause of reported drug allergies (44.8%), particularly Beta-lactams. Immediate reactions were commonly associated with antibiotics and nonsteroidal anti-inflammatory drugs (NSAIDs). Symptoms of FA included acute urticaria, vomiting, anaphylactic shock, and facial edema. Urticaria was the most frequent symptom of DA. Antihistamines and corticosteroids were the main treatments used for both FA and DA. Conclusion: the prevalence of FA and DA in Morocco remains uncertain due to limited data. There is a need for centralized data collection and awareness among clinicians and the general population regarding allergies. The study highlights the importance of proper diagnosis and management of allergies to ensure patient safety. The findings emphasize the necessity of establishing a mandatory center for allergy care in Morocco to improve the understanding and management of allergic conditions.
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Hipersensibilidad a las Drogas , Hipersensibilidad a los Alimentos , Urticaria , Animales , Bovinos , Niño , Preescolar , Femenino , Humanos , Alérgenos , Antibacterianos , Hipersensibilidad a los Alimentos/epidemiología , Hipersensibilidad a los Alimentos/diagnóstico , Hipersensibilidad a los Alimentos/etiología , Estudios Multicéntricos como Asunto , Estudios RetrospectivosRESUMEN
INTRODUCTION: Febrile seizures (FS) are the most common neurologic disorder seen in children. Caused mainly by fever without any damage to the central nervous system (CNS). The associations of several factors, which we can find in the inflammatory response and genetic predisposition, are involved in the occurrence of FS. AIM: This review provides insight into risk factors, particularly the involvement of the inflammatory response and genetic susceptibility in the occurrence of FS. METHODS: A PubMed search was performed using the keywords « febrile seizures ¼, « inflammatory response ¼, « Pro-inflammatory cytokines ¼, «And anti-inflammatory cytokines ¼. The search strategy included meta-analyses, prospective case-control studies, clinical trials, observational studies, and reviews. RESULTS: Febrile seizures with a peak incidence of 18 months usually occur between 6 months and 5 years. A variety of genetic, inflammatory, and environmental factors, including viruses and vaccines, trigger FS. A positive family history of febrile seizures increases the risk for FS occurrence with (20%) in siblings and (33%) in one parent. The involvement of inflammatory response genes, including the cytokine genes IL1B, IL1R, IL6, and IL4. According to these findings, FS is associated with the activation of a cascade of pro- and anti-inflammatory cytokines and the unbalance between these cytokines in the inflammation regulation plays a role in the development of FS. CONCLUSION: Current knowledge suggests that genetic susceptibility and inflammatory response dysregulation contribute to FS's genesis.
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Convulsiones Febriles , Niño , Humanos , Convulsiones Febriles/etiología , Convulsiones Febriles/genética , Citocinas/genética , Factores de Riesgo , Predisposición Genética a la Enfermedad , AntiinflamatoriosRESUMEN
Autoimmune cytopenias are defined by autoantibodies' immune destruction of one or more blood elements. Most often it is autoimmune hemolytic anemia or immune thrombocytopenia or both that define Evans syndrome. It may be secondary to infection or to underlying pathology such as systemic autoimmune disease or primary immunodeficiency, especially when it becomes chronic over several years. Primary Immunodeficiencies or inborn errors of immunity (IEI) are no longer defined solely by infections: autoimmunity is part of the clinical features of several of these diseases. It is dominated by autoimmune cytopenias, in particular, immune thrombocytopenia (ITP) and autoimmune hemolytic anaemia (AIHA). The challenges for the clinician are the situations where autoimmune cytopenias are chronic, recurrent and/or refractory to the various long-term therapeutic options. Most of these therapies are similar in action and generally consist of non-mediated immune suppression or modulation. In these situations, primary Immunodeficiencies must be diagnosed as soon as possible to allow the initiation of a targeted treatment and to avoid several ineffective therapeutic lines.
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Anemia Hemolítica Autoinmune , Citopenia , Púrpura Trombocitopénica Idiopática , Trombocitopenia , Niño , Humanos , Púrpura Trombocitopénica Idiopática/terapia , Púrpura Trombocitopénica Idiopática/tratamiento farmacológico , Anemia Hemolítica Autoinmune/terapia , Anemia Hemolítica Autoinmune/tratamiento farmacológico , Trombocitopenia/diagnóstico , Trombocitopenia/terapiaRESUMEN
Objective: Common variable immunodeficiency (CVID) is a complex inborn error of humoral immunity with complications of both infectious and non-infectious origins. Classifications of CVID patients provide a clearer understanding of the pathogenesis, prediction, and management of non-infectious complications. This study aims to classify Moroccan CVID patients based on the European classification (EUROclass). Materials and Methods: We recruited 20 CVID patients meeting standard diagnostic criteria (5-6). After collecting clinical and demographic data, we used flow cytometry to analyze B-cell subsets and group patients and assess the relation of each group with clinical manifestations. Results: 90% of the patients in our cohort study had a history of respiratory infections. The noninfectious manifestations included splenomegaly, autoimmunity, lymphadenopathy, and granulomatous diseases diagnosed in 50%, 45%, 40%, and 25% of patients, respectively. We observed significant co-occurrence of splenomegaly with autoimmunity and granulomatous diseases to a lesser extent. Patients had a significant reduction in total, switched memory, marginal zone-like, plasma blasts, and a substantial increase in the percentage of activated B cells, suggesting a defect in the late phases of B-cell differentiation. This condition was linked with an increased occurrence of splenomegaly and granulomatous affections. Besides, patients also had an expansion of CD21low B-cells, which was strongly associated with splenomegaly. Conclusion: The classification of the first Moroccan cohort of CVID patients showed agreement with previous results. It suggests the possibility of adopting this approach on a global scale for better diagnosis and follow-up of CVID patients.
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The constant progress of genomics and the establishment of new functional tests have paved the way for identifying monogenic defects conferring a selective predisposition to infections by certain microbes as a new type of inborn errors of immunity (IEIs). Mendelian susceptibility to mycobacterial diseases (MSMD) is the most characterized of these IEIs, with 36 different disorders found in 20 distinct genes (IFNGR1, IFNGR2, IFNG, IL12RB1, IL12RB2, IL23R, IL12B, ISG15, USP18, ZNFX1, TBX21, STAT1, TYK2, IRF8, IRF1, CYBB, JAK1, RORC, NEMO, and SPPL2A) over the last 20 years. MSMD confers a selective susceptibility to infections with weakly virulent mycobacteria, including the M. bovis Bacille Calmette-Guerin (BCG) vaccines and various environmental mycobacteria in patients, primarily children, without classical immune defects. These patients may also present severe forms of tuberculosis, and about half of them might develop non-typhoidal salmonellosis. In some cases, patients also suffer from chronic mucocutaneous candidiasis (CMC), while in others, patients also present severe viral, parasitic, fungal, and/or bacterial diseases. Despite this clinical and genetic heterogeneity, almost all genetic etiologies of MSMD alter the interferon-gamma (IFN-γ)- mediated immunity by impairing or abolishing IFN-γ production or the response to this cytokine. It was proven that the human IFN-γ level is a quantitative trait that defines the outcome of mycobacterial infection. The study of these monogenic defects contributes to understanding the molecular mechanism of mycobacterial diseases in humans and to the development of new diagnostic and therapeutic approaches to improve care and prognosis. For example, MSMD patients with impaired production of IFN-γ may benefit from injections of human recombinant IFN-γ, while for patients with abolished response to this cytokine, hematopoietic stem cell transplantation (HSCT) and promising gene therapy are the only current therapeutic options. These discoveries also bridge the gap between simple Mendelian inheritance and complex human genetics.
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Mevalonate kinase deficiency (MKD) is a rare hereditary autoinflammatory disease, with a widely variable clinical spectrum. It is characterized by febrile recurrent episodes and systemic inflammation. Data on therapeutic options for MKD are still limited and remain unknown in our country. We report Moroccan cases with MKD referred in our unit and treated with Anakinra, an interleukin-1 receptor antagonist. Through this study, we evaluate the efficacy of this bioagent, in our 2 MKD patients, in whom Anakinra has shown a complete clinical remission, with a remaining mild inflammation for one case, and normalization of growth with rare episodes of cervical adenopathies for the second case. Our experience provides an additional argument supporting the efficacy of Anakinra treatment, demonstrated previously but still lacks of objective data.
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INTRODUCTION: Several studies suggest that teaching medicine in the national language is essential for quality training and for communication with patients. AIM AND METHODS: To measure the students' level of understanding of their French language training and skills acquisition, as well as the difficulties they encounter in communicating with patients and their families, and the extent to which they accept medical studies in Arabic, we conducted a descriptive crosssectional study on a random sample of 450 students from the Faculty of Medicine and Pharmacy of Casablanca. RESULTS: 16% of the students had trouble assimilating their lessons in French, 48.9% of them had trouble communicating with the patient, and 22% were ready to study medicine in Arabic. Regarding the effect of teaching medicine in Arabic on different fields, 42.2% of the students mentioned a positive effect on the training, 85.2% on the communication with the patient during their training on field and 64.8% on the quality of care. CONCLUSION: Our study revealed the existence of multiple difficulties among students, particularly in the field of communication with the patient, which is a fundamental pillar for the quality of health care, hence the need to provide effective and rapid solutions to the problem of language in medical education.
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Educación Médica , Lenguaje , Humanos , Marruecos , Estudiantes , ActitudRESUMEN
INTRODUCTION: The future of the COVID-19 pandemic depends on the evolution of the virus and immune protection stimulated by vaccination or upon exposure to natural infection. While most research focuses on vaccine efficacy, data remain unclear on the efficacy and duration of natural immune protection against infection. AIM: In this article, we aim to determine the efficacy of natural immune protection against reinfection with COVID-19 or severe COVID-19. METHODS: We performed a systematic review of available studies in electronic databases followed by a meta-analysis to determine the efficacy of natural immune protection against COVID-19 reinfection and severe infection. RESULTS: Of the 414 studies identified for the full review, 8 studies met the inclusion criteria and were analyzed. The total number of individuals participating in the 8 studies included 19,837,147 people. Individuals with a history of SARS-CoV-2 infection (1,9% [0,6%-3,1%]) had a lower rate of infection than individuals without a history of infection (7,1% [3,9%-10,1%]). The mean efficacy of natural immune protection against reinfection was 84,7% [78,5%-90,9%], while the mean efficacy of natural immune protection against severe COVID-19 infection was 96,9% [94%-99,6%]. CONCLUSION: These results indicate that natural immune protection against reinfection is high, particularly against severe COVID-19. However, further research is needed to determine the duration of natural immune protection and the impact of different variants of SARS-CoV-2.
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COVID-19 , Humanos , COVID-19/epidemiología , COVID-19/prevención & control , SARS-CoV-2 , Pandemias , Reinfección/epidemiología , Reinfección/prevención & controlRESUMEN
Unusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at the Department of Pediatric Infectious Diseases and Clinical Immunity of Ibn Rochd University Hospital-Casablanca. During this period, on 591 patients newly diagnosed with a probable IEI, eight of them (1.3%), from six independent families, had isolated or syndromic unusual viral skin infections, which were either profuse, chronic or recurrent infections, and resistant to any treatment. The median age of disease onset was nine years old and all patients were born from a first-degree consanguineous marriage. By combining clinical, immunological and genetic investigations, we identified GATA2 deficiency in one patient with recalcitrant profuse verrucous lesions and monocytopenia (1/8) and STK4 deficiency in two families with HPV lesions, either flat or common warts, and lymphopenia (2/8), as previously reported. We also identified COPA deficiency in twin sisters with chronic profuse Molluscum contagiosum lesions, pulmonary diseases and microcytic hypochromic anemia (2/8). Finally, we also found one patient with chronic profuse MC lesions and hyper IgE syndrome, (1/8) and two patients with either recalcitrant profuse verrucous lesions or recurrent post-herpetic erythema multiforme and a combined immunodeficiency (2/8) with no genetic defect identified yet. Raising clinicians awareness that infectious skin diseases might be the consequence of an inborn error of immunity would allow for optimized diagnosis, prevention and treatment of patients and their families.
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Objective: SSc is a CTD characterized by excessive fibrosis of the skin and internal organs, along with microvascular damage, and is often associated with typical autoantibodies. The aim of this study was to analyse the correlation between specific autoantibody profiles, clinical and paraclinical features in Moroccan patients with SSc. Methods: We analysed the presence of specific autoantibodies in 46 SSc patients using IIF on HEp-2 cells and immunodot. We then correlated the types of autoantibodies with clinical and laboratory manifestations. Results: Among our patients, 86.9% were females. The mean age of patients at diagnosis was 50.21 years, with an average delay to diagnosis of 5 years. The main clinical manifestations found were RP (89.2%), sclerodactyly (84.8%), proximal scleroderma (67.4%), gastrointestinal involvement (50%) and interstitial lung disease (30.4%). According to the specific autoantibody profile, 14 patients were anti-topo I positive (30.4%), 8 anti-RNP (68 kDa/A/C) positive (17.4%) and 6 anti-RNA polymerase III positive (13%). We found a significant association of anti-RNA polymerase III with sclerodactyly and pulmonary arterial hypertension (P < 0.05). We also found an association between anti-topo I and interstitial lung disease in 30.4% of patients. There was no significant association between the positivity for the autoantibodies and other diagnosed clinical manifestations. Conclusion: Some clinical manifestations of SSc might be positively correlated with the presence of specific autoantibodies. Environmental factors, ethnicity and gene interaction might also influence this correlation.
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Objective: Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the clinical, biological and molecular features (when available) and outcomes of Moroccan patients with AIDs. Methods: Patient data were collected retrospectively and analysed over a 13-year period. Results: Among 30 patients, 60% had FMF, 16% mevalonate kinase deficiency (MKD) and 24% other AIDs. The mean age at first consultation was 6.9 years, and the mean diagnostic delay was 3 years. Consanguinity was reported in 16 cases. IgA vasculitis was associated with 33% of FMF patients, in whom the main clinical features were fever (88.8%), abdominal pain (100%), arthralgias (88.8%) and arthritis (50%), and the most frequent mutation was M694V (66%). All FMF patients were treated with colchicine. Most MKD patients were confirmed by elevated urinary mevalonic acid levels, and four of five MKD patients received targeted therapy. Chronic recurrent osteomyelitis patients were confirmed by radiological and histological analysis. Two cases of Marshall syndrome were diagnosed according to validated criteria. A case of familial pustular psoriasis was diagnosed based on histological analysis and a patient with Muckle-Wells syndrome by clinical features. The outcome was favourable in 76%, partial in 13%, and three deaths were reported. Conclusion: FMF and MKD are the most reported diseases. AIDs are probably underestimated because they are unknown to clinicians. The aim of this work is to raise awareness among paediatricians about AIDs and create a network for best practice.
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PURPOSE: The first molecular evidence of a monogenic predisposition to mycobacteria came from the study of Mendelian susceptibility to mycobacterial disease (MSMD). We aimed to study this Mendelian susceptibility to mycobacterial diseases in Moroccan kindreds through clinical, immunological, and genetic analysis. METHODS: Patients presented with clinical features of MSMD were recruited into this study. We used whole blood samples from patients and age-matched healthy controls. To measure IL-12 and IFN-γ production, samples were activated by BCG plus recombinant human IFN-γ or recombinant human IL-12. Immunological assessments and genetic analysis were also done for patients and their relatives. RESULTS: Our study involved 22 cases from 15 unrelated Moroccan kindreds. The average age at diagnosis is 4 years. Fourteen patients (64%) were born to consanguineous parents. All patients were vaccinated with the BCG vaccine, and twelve of them (55%) developed locoregional or disseminated BCG infections. The other symptomatic patients had severe tuberculosis and/or recurrent salmonellosis. Genetic mutations were identified on the following genes: IL12RB1 in 8 patients, STAT1 in 7 patients; SPPL2A, IFNGR1, and TYK2 in two patients each; and TBX21 in one patient, with different modes of inheritance. All identified mutations/variants altered production or response to IFN-γ or both. CONCLUSION: Severe forms of tuberculosis and complications of BCG vaccination may imply a genetic predisposition present in the Moroccan population. In the presence of these infections, systematic genetic studies became necessary. BCG vaccination is contraindicated in MSMD patients and should be delayed in newborn siblings until the exclusion of a genetic predisposition to mycobacteria.
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Infecciones por Mycobacterium , Mycobacterium , Tuberculosis , Recién Nacido , Humanos , Preescolar , Predisposición Genética a la Enfermedad , Vacuna BCG , Infecciones por Mycobacterium/etiología , Tuberculosis/genética , Interleucina-12 , Mutación/genéticaRESUMEN
PURPOSE: Genetic testing provides great support to validate the clinical diagnosis of inborn errors of immunity (IEI). However, the high cost and advanced technology make these tests inaccessible to a large proportion of patients in low-income countries. In the present study, we aim to evaluate the Moroccan experience in genetic testing and to report the main molecular features and difficulties encountered in genetic diagnosis. METHODS: We performed a multi-center retrospective analysis of all patients with a molecular diagnosis and registered in the national registry between 2010 and 2022. To estimate the impact of the newly identified mutations, we calculated the Combined Annotation Dependent Depletion (CADD) score and the mutation significance cutoff (MSC) for each variant. RESULTS: A total of 216 (29%) patients received a genetic diagnosis out of 742 patients with IEI included in the registry. All genetic tests were performed in the context of thesis projects (40%) or international collaborations (60%). A set of 55 genetic defects were identified, including 7 newly reported: SNORA31, TBX21, SPPL2A, TYK2, RLTPR, ZNF341, and STAT2 GOF. Genetic diagnoses were more frequent in the defects of innate and intrinsic immunity with a percentage of 78%, while antibody deficiencies had a lower frequency with a percentage of 17.5%. Only one genetic diagnosis has been made in the complement deficiency group. The most commonly used molecular techniques were Sanger sequencing (37%) followed by targeted gene sequencing (31%). CONCLUSION: The thesis projects and collaborations were beneficial as they allowed us to provide a definitive genetic diagnosis to 29% of the patients and to contribute to the identification of new genetic defects and mutations. These results offer insight into the progress made in genetic diagnoses of IEI in Morocco, which would provide a baseline for improving the clinical management of patients with IEI.
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Pruebas Genéticas , Humanos , Estudios Retrospectivos , Mutación/genética , Enfermedades por Deficiencia de Complemento Hereditario , Marruecos/epidemiologíaRESUMEN
BACKGROUND: There is limited data available regarding the prevalence of celiac disease (CD) among children with type 1 diabetes mellitus (T1DM) in Arab countries and the Middle East. This cross-sectional study has been designed to explore the prevalence of CD specifically within the population of Moroccan children and adolescents diagnosed with type 1 diabetes mellitus (T1DM). PATIENTS AND METHODS: This is a cross-sectional study of patients who underwent regular follow-up for T1DM at the Pediatric Endocrinology Unit, Abderrahim Harouchi Children's University Hospital in Casablanca, over a 16-year period from 2004 to 2020. Patients were screened for CD by measuring anti-tissue transglutaminase IgA, and those with positive antibodies underwent endoscopy assessment. RESULTS AND DISCUSSION: All 550 patients regularly followed up with TIDM were screened for CD. Fifty-five (33 girls/22 boys) of the screened patients had histologically documented CD, yielding a prevalence of 10%. Nineteen (41.9%) patients had developed CD within the initial four years of diagnosis with T1DM. Therefore, among the six confirmed CD patients, the average age at the onset of T1DM was 3.7 years. For twenty-four (57.5%) of the patients, exhibited no apparent clinical indications of CD, and their condition was only identified through systematic screening. CONCLUSION: This study showed a high prevalence rate of CD associated with type 1 diabetes T1DM, particularly among young children. The results of this paper indicate one of the highest prevalence rates reported in the existing literature for the coexistence of CD and T1DM. These findings may suggest the necessity of a systematic screening of CD in T1DM patients.
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The detection of a high serum immunoglobulin E (IgE) level is first suggestive of allergy, atopy or parasitosis. However, some very high values can be a sign of more severe diseases. We propose a diagnostic strategy based on clinical and biological data to identify the various hereditary immune diseases that also present with abnormally high serum IgE levels.
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Hipersensibilidad , Síndromes de Inmunodeficiencia , Humanos , Inmunoglobulina E , HipergammaglobulinemiaRESUMEN
In the era of genomics, orientation in the face of hereditary neutropenia still requires, first and foremost, a good clinical and cytological analysis. The thirty responsible genes now explain 60% of congenital neutropenia. These are rare since they are only found in 1 of all congenital neutropenia, estimated at 1% of the population. The clinical examination looks for phenotypes associated with syndromic hereditary neutropenia and cytology will guide this etiological research thanks to the data collected from blood count and bone marrow analysis. The objective of this narrative literature review is to provide an overview of the most recent literature regarding acquired and congenital chronic neutropenia and will provide a decision tree to guide towards aetiology. This will allow a better discussion with geneticists even if the genotype-phenotype correlation is not very strong.
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Neutropenia , Neutropenia/congénito , Niño , Humanos , Neutropenia/etiología , Neutropenia/genética , Síndromes Congénitos de Insuficiencia de la Médula Ósea , Fenotipo , Examen FísicoRESUMEN
Immune deficiencies in adults are quite common conditions in medical practice. However, they present with different clinical phenotypes, whether primary or secondary, which makes their diagnosis more tedious, hence diagnostic and management delays. Through this update, we will review the most common immune deficiencies, their presentations and features. This update's main aim was to propose to the practitioner a structured clinical reasoning and approach, in order to suspect an immune deficiency and initiate a guided exploration. It will also be easier for him to know when a referral to the specialist is necessary.