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1.
Afr Health Sci ; 19(1): 1449-1459, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31148972

RESUMO

Background: Primary immunodeficiency diseases (PID) comprise a group of more than 300 diseases that affect development and /or function of the immune system. Objectives: The aim of this study was diagnosis of PID among a suspected group of neonates and infants within the first six months of life as well as identifying the warning signs of PID characteristic to this period. Method: Fifty neonates presenting with warning signs of PID were enrolled in the study. Results: The study revealed that twenty six patients (52%) were diagnosed with Primary Immunodeficiency, T cell/combined immunodeficiency were noted as the most common PID class (88.5%) with fourteen T-B-SCID patients (70%) and six T-B+ SCID patients (30%), phagocytic disorders were estimated to be 7.7% while 3.8% were unclassified immunodeficiency. The mean age of presentation for PID group was 1.42±1.38 months with a diagnostic lag of 3.08±1.78 months. Consanguinity was positive in 76.9% of the PID group. Lower respiratory tract infections, persistent fungal infections and lymphopenia were the most significant warning signs for diagnosing PID with a p value of (0.01). Combined, lower respiratory tract infections, fungal infections and lymphopenia were 12.3 times more likely to be associated with PID. Conclusion: Focused screening in high risk neonates proved to be a valuable tool for diagnosis of PID disorders.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Infecção/epidemiologia , Triagem Neonatal , Imunodeficiência Combinada Severa/epidemiologia , Infecções Bacterianas/diagnóstico , Consanguinidade , Egito/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Imunodeficiência Combinada Severa/diagnóstico
4.
J Clin Immunol ; 39(1): 45-54, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30547383

RESUMO

Studies of chest computed tomography (CT) in patients with primary antibody deficiency syndromes (ADS) suggest a broad range of bronchial pathology. However, there are as yet no multicentre studies to assess the variety of bronchial pathology in this patient group. One of the underlying reasons is the lack of a consensus methodology, a prerequisite to jointly document chest CT findings. We aimed to establish an international platform for the evaluation of bronchial pathology as assessed by chest CT and to describe the range of bronchial pathologies in patients with antibody deficiency. Ffteen immunodeficiency centres from 9 countries evaluated chest CT scans of patients with ADS using a predefined list of potential findings including an extent score for bronchiectasis. Data of 282 patients with ADS were collected. Patients with common variable immunodeficiency disorders (CVID) comprised the largest subgroup (232 patients, 82.3%). Eighty percent of CVID patients had radiological evidence of bronchial pathology including bronchiectasis in 61%, bronchial wall thickening in 44% and mucus plugging in 29%. Bronchiectasis was detected in 44% of CVID patients aged less than 20 years. Cough was a better predictor for bronchiectasis than spirometry values. Delay of diagnosis as well as duration of disease correlated positively with presence of bronchiectasis. The use of consensus diagnostic criteria and a pre-defined list of bronchial pathologies allows for comparison of chest CT data in multicentre studies. Our data suggest a high prevalence of bronchial pathology in CVID due to late diagnosis or duration of disease.


Assuntos
Brônquios/patologia , Síndromes de Imunodeficiência/patologia , Parede Torácica/patologia , Adolescente , Adulto , Idoso , Bronquiectasia/patologia , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/patologia , Feminino , Humanos , Lactente , Masculino , Espirometria/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto Jovem
5.
BMC Res Notes ; 11(1): 717, 2018 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-30305145

RESUMO

OBJECTIVE: Primary immunodeficiency (PID) patients are prone to developing viral infections and should not be vaccinated with live vaccines. In such patients, prolonged excretion and viral divergence may occur and they may subsequently act as reservoirs in the community introducing mutated virus and jeopardizing polio eradication. One hundred and thirty PID cases were included for poliovirus detection in stool with assessment of divergence of detected polioviruses from oral polio vaccine (OPV) virus. Clinical presentations of PID patients with detectable poliovirus in stool specimens are described. RESULTS: Six PID patients (4.5%) had detectable vaccine-derived poliovirus (VDPV) excretion in stool specimens; of these, five patients had severe combined immunodeficiency (two with acute flaccid paralysis, one with meningoencephalitis and two without neurological manifestations), and one patient had X-linked agammaglobulinemia (paralysis developed shortly after diagnosis of immunodeficiency). All six case-patients received trivalent OPV. Five case-patients had type 2 immunodeficiency-related vaccine-derived polioviruses (iVDPV2) excretion; one had concomitant excretion of Sabin like type 3 virus and one was identified as iVDPV1 excretor. Surveillance for poliovirus excretion among PID patients is critical as these patients represent a potential source to reseed polioviruses into populations.

6.
Artigo em Inglês | MEDLINE | ID: mdl-30170160

RESUMO

BACKGROUND: MHC class II deficiency leads to defective CD4+ T-cell function that results from impaired antigen presentation. A genetic disorder in 1 of 4 genes results in this syndrome that is associated with the clinical phenotype of combined immunodeficiency. OBJECTIVE: To describe the clinical, immunological, and molecular characteristics of 10 Egyptian patients from 9 different families having presented with MHC class II deficiency between 2012 and 2017. METHODS: An initial diagnosis based on the combination of clinical features and low HLA-DR expression by flow cytometry was confirmed by genetic analyses. RESULTS: Symptoms included failure to thrive (n = 9), persistent diarrhea (n = 5), and pneumonia (n = 8). Septicemia due to coagulase-negative staphylococci (n = 1) and Candida krusei (n = 1) was diagnosed. Nine patients orally received the live attenuated polio vaccine, of whom 3 developed acute flaccid paralysis thereafter. Nine patients received the BCG vaccine and none developed obvious signs of BCGitis. Four patients carried RFXANK gene mutations, 3 carried RFX5 gene mutations, 1 carried a CIITA gene mutation, and none carried RFXAP gene mutations. Six of the 7 detected mutations were previously unreported mutations: c.431T>C, c.247_250delTCAG, and c.600delG in the RFXANK gene; c.116+1G>A and c.715C>T in the RFX5 gene; and c.929delA in the CIITA gene. CONCLUSIONS: Given that Egypt is a North African country with a high rate of consanguinity, MHC class II deficiency is not rare. However, the molecular defects differ from those reported in nearby countries. Early diagnosis must be based on suspicious clinical signs and laboratory diagnosis because the defect can be missed by T-cell receptor excision circles based on neonatal screening.

7.
Clin Immunol ; 195: 36-44, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30048691

RESUMO

In the past few years, several genes were shown to be implicated in various forms of the Hyper Immunoglobulin E syndrome. The present study is the first to describe a cohort of DOCK8 deficiency patients from Egypt. The study included 15 patients with features of combined immunodeficiency (CID) suggestive of DOCK8 deficiency. Flow cytometry was used for evaluation of DOCK8 expression and studying different immunological characteristics of those patients including evaluation of Th17, Tregs, T and B lymphocytes differentiation and the effect of the DOCK8 deficiency on the activation of the STAT3. Diagnosis was confirmed by mutational analysis. Profound defects in Th17 cells and Tregs were observed in all patients with impaired STAT3 phosphorylation, indicating that DOCK8 plays a pivotal role in the STAT3 signaling pathway. These findings together with decrease in memory B cells and defective DOCK8 expression by flow cytometry can confirm the diagnosis.

8.
Mol Diagn Ther ; 21(6): 677-684, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28900865

RESUMO

BACKGROUND: Primary immunodeficiency disorders (PIDs) are a heterogeneous group of diseases of the immune system leading to life-threatening infections, and, unless urgently treated with immune reconstitution, patients do not usually survive. With the continuing progress in molecular diagnosis, many mutations have been described in more than 300 genes. Genetic counseling has recently been considered an essential part of the management of PIDs. This study presents the experience of genetic counseling services in the largest PID center in Egypt, and reports on our management plan and the impact of prenatal diagnosis (PND) on families. METHODS: Based on the biochemical and molecular diagnosis of index cases, PND was offered for 10 families in 12 subsequent pregnancies. Five different genes were sequenced by Sanger sequencing in fetal samples. RESULTS: Seven fetuses were either normal or were carriers, while five fetuses were affected and human leukocyte antigen typing was performed, seeking a suitably related donor for stem cell transplantation. CONCLUSION: In spite of the genetic heterogeneity behind PIDs, genetic counseling should play a critical role in the management and future decisions of affected families.


Assuntos
Aconselhamento Genético , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Proteínas de Ligação a DNA/genética , Egito , Feminino , Testes Genéticos , Heterozigoto , Humanos , Síndromes de Imunodeficiência/psicologia , Mutação , Proteínas Nucleares/genética , Linhagem , Gravidez , Diagnóstico Pré-Natal/métodos , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/genética
9.
Inflamm Bowel Dis ; 23(12): 2109-2120, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28930861

RESUMO

BACKGROUND: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients. METHODS: We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients. RESULTS: Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients. CONCLUSIONS: Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers.


Assuntos
Diarreia/etiologia , Predisposição Genética para Doença , Doenças Inflamatórias Intestinais/genética , Idade de Início , Criança , Pré-Escolar , Doença Crônica , Feminino , Estudo de Associação Genômica Ampla , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Sequenciamento Completo do Exoma
10.
Electron Physician ; 8(9): 2897-2903, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27790341

RESUMO

AIM: The purpose of present study was to access the prevalence of anti-cyclic citrullinated peptide (anti-CCP) antibodies in children with Juvenile Idiopathic Arthritis (JIA), and to investigate the clinical significance and diagnostic value of the anti-CCP antibodies in correlation with age, sex & activity. METHODS: This case-control study was performed on 50 patients with JIA in addition to 40 sex and age-matched children as a control group. The participants were recruited from rheumatology Outpatient Clinic of Cairo University Specialized Pediatric Hospital. Patients were subjected to full history taking, clinical examination, routine laboratory investigations and x-rays on involved joints. Both patients and controls underwent assay of anti-CCP antibodies by AxSYM Anti-CCP IgG Microparticle Enzyme Immunoassay (MEIA) which is a semi-quantitative determination of the IgG class of autoantibodies specific to cyclic citrullinated peptide (CCP) in patients' serum or plasma. Data were analyzed using Mann-Whitney U test, ANOVA, and independent-samples t-test by SPSS version 15. RESULTS: Anti-CCP positivity was identified amongst patients with JIA, particularly those JIA patients experiencing RF positive polyarticular disease onset. Above all, it is important that anti-CCP positivity and bone erosions, degree of joint damage, and ESR levels were significantly correlated. CONCLUSION: Anti-CCP could be utilized as a valuable marker in the polyarticular form of JIA to direct early, and could be aggressive therapeutic intervention.

11.
J Clin Immunol ; 36(7): 649-55, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27484503

RESUMO

INTRODUCTION: Primary immunodeficiency disorders (PIDs) are heterogeneous disorders that mainly present with severe, persistent, unusual, or recurrent infections in childhood. Reports from different parts of the world indicate a difference between Western and Eastern populations. AIM: The aim of this study was to report on the different patterns of PIDs and identify subgroup characteristics in a highly consanguineous population in Egypt. METHODS: We performed a retrospective chart review for children below 18 years diagnosed with PID at Cairo University Pediatric Hospital from 2010 to 2014. RESULTS: Four hundred seventy-six children were diagnosed with PID disorders. Major categories included combined immunodeficiency disorders, which constituted a large proportion (30 %) of cases, along with predominantly antibody disorders (18 %) followed by syndromic combined disorders (16.8 %), phagocytic disorders (13.2 %), immune dysregulation disorders (10.5 %), and autoinflammatory disorders (9 %). CONCLUSION: PIDs have different patterns within inbred populations with high consanguinity.


Assuntos
Consanguinidade , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Fenótipo , Idade de Início , Criança , Pré-Escolar , Diagnóstico Tardio , Egito/epidemiologia , Feminino , Estudos de Associação Genética , Heterogeneidade Genética , Predisposição Genética para Doença , Testes Genéticos/métodos , Hospitais Universitários , Humanos , Síndromes de Imunodeficiência/epidemiologia , Masculino , Programas de Rastreamento , Vigilância da População , Sistema de Registros , Estudos Retrospectivos
12.
J Clin Immunol ; 36(6): 610-8, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27222152

RESUMO

INTRODUCTION: Chronic granulomatous disease (CGD) is an inherited mutational defect in any of the NADPH oxidase complex, CYBB (gp91-phox), NCF1 (p47-phox), CYBA (p22-phox), NCF2 (p67-phox), or NCF4 (p40-phox) leading to inability of phagocytes to perform effective respiratory burst and thus diminished killing of bacteria and fungi. The identification of defective proteins aids in establishing a diagnosis prior to genetic analysis, which is rather labor-intensive, expensive, and time-consuming. AIM: The present study aims at assessing the NADPH proteins by performing the intracellular staining with specific monoclonal antibodies and their assessment on flow cytometry. The use of flow cytometry is less laborious and faster to perform than western blot. It also confirms the diagnosis of CGD and detects the affected components allowing proper management of patients. MATERIALS AND METHODS: Twenty-eight patients from 25 different kindred, clinically suspected as CGD were recruited in Egypt. Dihydrorhodamine test was performed to confirm the diagnosis of the patients. Intracellular staining of NADPH components using specific monoclonal antibodies was performed followed by flow cytometric analysis. RESULTS: The present study revealed that the most common defective protein in our cohort is p22-phox, found in 13 patients (46.4 % of cases) followed by p47-phox in 8 patients (28.6 %), gp91-phox in 5 patients (17.9 %), and finally p67-phox in 2 patients (7.1 %). CONCLUSION: In countries with limited resources and yet large number of CGD patients, the analysis of the defective proteins by flow cytometry is an optimum solution for confirming the diagnosis and is a step for targeted sequencing in families seeking prenatal diagnosis.


Assuntos
Doença Granulomatosa Crônica/diagnóstico , Biomarcadores , Criança , Pré-Escolar , Egito , Feminino , Citometria de Fluxo , Genótipo , Doença Granulomatosa Crônica/genética , Doença Granulomatosa Crônica/imunologia , Doença Granulomatosa Crônica/metabolismo , Humanos , Imunofenotipagem , Lactente , Masculino , Mutação , NADP/metabolismo , NADPH Oxidases/metabolismo , Neutrófilos/imunologia , Neutrófilos/metabolismo , Fatores de Risco
13.
Clin Immunol ; 158(2): 167-73, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25869295

RESUMO

The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID.


Assuntos
Proteínas de Ligação a DNA/metabolismo , Proteínas de Homeodomínio/metabolismo , Proteínas Nucleares/metabolismo , Imunodeficiência Combinada Severa/epidemiologia , Imunodeficiência Combinada Severa/genética , Pré-Escolar , Proteínas de Ligação a DNA/genética , Egito/epidemiologia , Feminino , Proteínas de Homeodomínio/genética , Humanos , Lactente , Masculino , Mutação , Proteínas Nucleares/genética
14.
J Recept Signal Transduct Res ; 35(5): 423-8, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25798665

RESUMO

CONTEXT: Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder caused by inherited defects in the NADPH oxidase complex which may be involved in important pathways that connect innate and adaptive immunity. OBJECTIVES: Characterize the naive and memory compartment of B and T lymphocytes in patients with CGD. METHODS: Twenty CGD patients and twenty healthy controls matched for age and sex were enrolled in this study. Flow cytometric assessment of the naïve and memory compartments of peripheral blood lymphocytes was done using cell surface markers CD45RO, CD45RA, CD27, CD3 and CD19. RESULTS: There were 15 (79%) autosomal recessive CGD patients (8 females (53%) and 7 males (47%), 100% positive parental consanguinity) and four (21%) X-linked CGD patients. On comparing the 3 groups; AR CGD, X-linked CGD and controls, there was a positive statistical significant difference for the percentage and absolute count of CD19 + CD27+ memory B cell (p = 0.028 and p = 0.047 respectively), CD45RA cells (with p values of p = 0.000 and 0.033, respectively), the naïve compartment CD3 + CD45RA+ cells percentage and absolute counts (p = 0.005, 0.01respectively), CD3 + CD27 + cells percentage and absolute counts (p = 0.001, 0.012 respectively), CD3 + CD45RA + CD27+ cells percentage and absolute counts (p = 0.015, 0.005, respectively). The significance was mainly attributed to the decrease in the X-linked group than control group. CONCLUSION: There was an altered naïve and memory B profile in CGD patients, this may increase susceptibility of the patients to opportunistic infections and autoimmune disorders. T-cell alterations have to be interpreted cautiously especially in the presence of infections.


Assuntos
Linfócitos B/patologia , Doença Granulomatosa Crônica/genética , Doença Granulomatosa Crônica/patologia , Linfócitos T/patologia , Linfócitos B/imunologia , Criança , Pré-Escolar , Estudos de Coortes , Egito , Feminino , Doença Granulomatosa Crônica/imunologia , Humanos , Lactente , Masculino , Linfócitos T/imunologia
15.
J Allergy Clin Immunol ; 133(4): 1134-41, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24679470

RESUMO

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.


Assuntos
Vacina BCG/efeitos adversos , Imunodeficiência Combinada Severa/epidemiologia , Vacina BCG/imunologia , Pré-Escolar , Comorbidade , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Prevalência , Estudos Retrospectivos , Risco , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/terapia , Vacinação/efeitos adversos , Vacinação/legislação & jurisprudência
16.
J Allergy Clin Immunol ; 134(1): 116-26, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24582312

RESUMO

BACKGROUND: Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratory tract infections and their associated complications, enteropathy, autoimmunity, and lymphoproliferative disorders. OBJECTIVE: This study analyzes the clinical presentation, association between clinical features, and differences and effects of immunoglobulin treatment in Europe. METHODS: Data on 2212 patients with CVID from 28 medical centers contributing to the European Society for Immunodeficiencies Database were analyzed retrospectively. RESULTS: Early disease onset (<10 years) was very frequent in our cohort (33.7%), especially in male subjects (39.8%). Male subjects with early-onset CVID were more prone to pneumonia and less prone to other complications suggesting a distinct disease entity. The diagnostic delay of CVID ranges between 4 and 5 years in many countries and is particularly high in subjects with early-onset CVID. Enteropathy, autoimmunity, granulomas, and splenomegaly formed a set of interrelated features, whereas bronchiectasis was not associated with any other clinical feature. Patient survival in this cohort was associated with age at onset and age at diagnosis only. There were different treatment strategies in Europe, with considerable differences in immunoglobulin dosing, ranging from 130 up to 750 mg/kg/mo. Patients with very low trough levels of less than 4 g/L had poor clinical outcomes, whereas higher trough levels were associated with a reduced frequency of serious bacterial infections. CONCLUSION: Patients with CVID are being managed differently throughout Europe, affecting various outcome measures. Clinically, CVID is a truly variable antibody deficiency syndrome.


Assuntos
Imunodeficiência de Variável Comum/complicações , Transtornos Linfoproliferativos/complicações , Pneumonia/complicações , Adolescente , Adulto , Idade de Início , Autoimunidade , Bronquiectasia/patologia , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/tratamento farmacológico , Imunodeficiência de Variável Comum/imunologia , Imunodeficiência de Variável Comum/mortalidade , Diagnóstico Tardio , Europa (Continente) , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Transtornos Linfoproliferativos/tratamento farmacológico , Transtornos Linfoproliferativos/imunologia , Transtornos Linfoproliferativos/mortalidade , Masculino , Pneumonia/tratamento farmacológico , Pneumonia/imunologia , Pneumonia/mortalidade , Estudos Retrospectivos , Esplenomegalia/patologia , Análise de Sobrevida
17.
J Adv Res ; 5(6): 647-55, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25685533

RESUMO

The existence of multiple autoimmune disorders in diabetics may indicate underlying primary defects of immune regulation. The study aims at estimation of defects of CD4(+) CD25(+high) cells among diabetic children with multiple autoimmune manifestations, and identification of disease characteristics in those children. Twenty-two cases with type 1 diabetes associated with other autoimmune diseases were recruited from the Diabetic Endocrine and Metabolic Pediatric Unit (DEMPU), Cairo University along with twenty-one normal subjects matched for age and sex as a control group. Their anthropometric measurements, diabetic profiles and glycemic control were recorded. Laboratory investigations included complete blood picture, glycosylated hemoglobin, antithyroid antibodies, celiac antibody panel and inflammatory bowel disease markers when indicated. Flow cytometric analysis of T-cell subpopulation was performed using anti-CD3, anti-CD4, anti-CD8, anti-CD25 monoclonal antibodies. Three cases revealed a proportion of CD4(+) CD25(+high) below 0.1% and one case had zero counts. However, this observation did not mount to a significant statistical difference between the case and control groups neither in percentage nor absolute numbers. Significant statistical differences were observed between the case and the control groups regarding their height, weight centiles, as well as hemoglobin percentage, white cell counts and the absolute lymphocytic counts. We concluded that, derangements of CD4(+) CD25(+high) cells may exist among diabetic children with multiple autoimmune manifestations indicating defects of immune controllers.

18.
Afr Health Sci ; 13(2): 261-5, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24235922

RESUMO

BACKGROUND: Intravenous Immunoglobulin (IVIG) preparations are scarce biological products used for replacement or immunomodulatory effects. Guidelines have been issued by regulatory health authorities to ensure provision of the products for patients who are in severe need. OBJECTIVES: The study aimed at description of the pattern of IVIG use (label/off label indications), adverse effects observed, reason for choice of IVIG among other modalities and efficacy in a pediatric intensive care setting. METHODS: A retrospective chart review. PATIENTS: The study included 45 cases admitted from 2008 through 2011 in a Pediatric Intensive Care Unit (PICU) of a tertiary referral pediatric hospital. RESULTS: The clinical diagnoses included neurology (35%), neonatology (16%), hematology (11%), autoimmune disorders (11%) immunodeficiency disorders (11%), infections other than neonatal sepsis (9%) and cardiology (6.5 %). The indications for IVIG use had an Evidence category Ia / Ib in 62 % of cases whereas the other 38 % had level II and III evidence. Choice of IVIG as a therapeutic option was based on failure of other treatment options to achieve response in 46.5%, lack of alternative treatment options 15.5 % and the need for urgent response in 38 %. Adverse events, duration and doses are reported. CONCLUSION: IVIG use is governed by availability of alternative options and the need for urgent response in critically ill children. Guidelines should be issued based on locally available treatment options and their cost effectiveness.


Assuntos
Recursos em Saúde/provisão & distribução , Imunoglobulinas Intravenosas/uso terapêutico , Unidades de Terapia Intensiva Pediátrica , Padrões de Prática Médica , Adolescente , Criança , Pré-Escolar , Egito , Humanos , Lactente , Auditoria Médica , Estudos Retrospectivos
19.
J Pak Med Assoc ; 62(4): 321-8, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22755272

RESUMO

OBJECTIVES: To study the frequency of occurrence of the different forms of primary dyslipidaemia, to display their various clinical presentations and their lipid profile before and six months after therapy. METHODS: Prospective study was conducted in the Cairo University Childrens' Hospital. Twenty primary dyslipidaemic cases were included with history taking, clinical examination, electrocardiography and echocardiography. Investigations included: Total cholesterol, total triglycerides, LDL-C and HDL-C using enzymatic colorimetric methods, ApoA1, Apo B100 were evaluated using a Behring nephelometer. Different therapeutic modalities were offered and reassessment of laboratory tests was done every three months. RESULTS: Parents were consanguineous in 75%. Eleven cases had hypercholesterolaemia; eight had xanthoma, one had xanthelasma, two had hypo pigmentation, three had corneal arcus, one had lipaemia retinalis and six had cardiac manifestations among which one case had myocardial infarction and one case died. Three cases had hypertriglyceridaemia; three had milky plasma, two had xanthoma, two had lipaemia retinalis, one case had pancreatitis and none had cardiac manifestations. Six cases had mixed hyperlipidaemia; five had xanthoma, three had lipaemia retinalis and two had cardiac manifestations. After six months of multi-drug use, the laboratory lipid profile was unsatisfactory in majority of the cases. CONCLUSION: Primary dyslipidaemia may present early and paediatricians should have high index of suspicion. These children should be put on early strict lipid reduction protocols to prevent complications.


Assuntos
Dislipidemias/complicações , Dislipidemias/diagnóstico , Adolescente , Fatores Etários , Criança , Pré-Escolar , Estudos de Coortes , Dislipidemias/sangue , Egito , Feminino , Humanos , Lipídeos/sangue , Masculino
20.
Mediterr J Hematol Infect Dis ; 4(1): e2012033, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22708048

RESUMO

BACKGROUND: Tuberculosis remains a major health problem in developing countries especially with the emergence of multidrug resistant strains. Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare disorder with impaired immunity against mycobacterial pathogens. Reported MSMD etiologies highlight the crucial role of the Interferon gamma /Interleukin 12 (IFN-γ/ IL-12) axis and the phagocyte respiratory burst axis. PURPOSE: Screen patients with possible presentations for MSMD. METHODS: Patients with disseminated BCG infection following vaccination, atypical mycobacterial infections or recurrent tuberculosis infections were recruited from the Primary Immune Deficiency Clinic at Cairo University Specialized Pediatric Hospital, Egypt and immune and genetic laboratory investigations were conducted at Human Genetic of Infectious Diseases laboratory in Necker Medical School, France from 2005-2009. IFN-γ level in patient's plasma as well as mutations in the eight previously identified MSMD-causing genes were explored. RESULTS: Nine cases from eight (unrelated) kindreds were evaluated in detail. We detected a high level of IFN-γ in plasma in one patient. Through Sanger sequencing, a homozygous mutation in the IFNGR1 gene at position 485 corresponding to an amino acid change from serine to phenylalanine (S485F), was detected in this patient. CONCLUSION: We report the first identified case of MSMD among Egyptian patients, including in particular a new IFNGR1 mutation underlying IFN-γR1 deficiency. The eight remaining patients need to be explored further. These findings have implications regarding the compulsory Bacillus.

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