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1.
J Clin Immunol ; 38(1): 129-143, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29226301

RESUMO

Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.

2.
Tunis Med ; 96(10-11): 672-677, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30746660

RESUMO

INTRODUCTION: Primary Immunodeficiency (PIDs) is a set of 330 rare hereditary diseases that increase susceptibility to infections, allergies, autoimmunity, and neoplasia. North American registries give higher prevalence than Maghreb ones, whereas consanguinity is high. The purpose of this study is to compare prevalence and coverage rate of Maghreb PID registries with estimates based on USA. METHODS: We searched the prevalence of PIDs in the Maghreb registers. Next, we estimated the expected values based on recent publications. Finally, we calculated the coverage rate of the Maghreb registries compared to the new estimates and we evaluated the impact of consanguinity. RESULTS: The total number is N1 = 2456 patients. The current Maghreb PID Prevalence is 2.56 / 100,000 inhabitants (population of 94,804,694 Million in 2017). Tunisia leads with a prevalence of 8.70 followed by Morocco 2.09, Libya 1.65 and Algeria 1.46/100.000 habitants. We did not find values for Mauritania. If we extrapolate the prevalence of the USA to the Maghreb population, the number of patients in the Maghreb would be N2 = 27,588 and the coverage rate (N1 / N2) would be 8.90%. This low coverage rate is however better than the World average (1.21%), that of Latin America 1.19% and Africa 0.36%. The Maghreb prevalence is close to that of the Arab world 2.04 / 100,000 (population of 391,449,544 in 2017). Using the incidence found in the USA, the number of patients would be 9765 new patients per year in the Maghreb and 40,319 in Arab countries. CONCLUSION: PID Maghreb patients number is very low compared to global estimates, whereas consanguinity is very high. Special attention should be given to PIDs by governments and research teams in this region.


Assuntos
Síndromes de Imunodeficiência/epidemiologia , África/epidemiologia , África do Norte/epidemiologia , Argélia/epidemiologia , Ásia/epidemiologia , Consanguinidade , Europa (Continente)/epidemiologia , Humanos , Síndromes de Imunodeficiência/genética , Incidência , Oriente Médio/epidemiologia , Marrocos/epidemiologia , Prevalência , Sistema de Registros/estatística & dados numéricos , Estatística como Assunto/normas , Tunísia/epidemiologia , Estados Unidos/epidemiologia
3.
Pan Afr Med J ; 26: 212, 2017.
Artigo em Francês | MEDLINE | ID: mdl-28690727

RESUMO

Hyper IgM syndrome is a well known genetic (primary) immunodeficiency disorder which was first described in 1961. It is caused by B lymphocyte deficiency characterized by normal or elevated serum IgM levels and low or zero levels of IgG, IgA, IgE resulting from isotype-switching deficiency. Clinical manifestations are dominated by recurrent infections, especially involving the digestive tube of the ENT sphere and the lungs. This syndrome is caused by B-cell immunoglobulin class switch deficiency and decreased capacity to induce proliferation of T lymphocytes. The net result of these deficiencies is reflected in increased susceptibility to Pneumocystis jiroveci, Cryptosporidium spp and other intracellular organisms as well as high rate of bacterial and viral infections. This study aimed to illustrate the importance of understanding the pathophysiological mechanisms associated with this increased susceptibility to infections in order to allow a better diagnosis and therapy in patients with Hyper IgM syndrome (HIM).


Assuntos
Linfócitos B/imunologia , Síndrome de Imunodeficiência com Hiper-IgM/fisiopatologia , Infecções Oportunistas/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Síndrome de Imunodeficiência com Hiper-IgM/imunologia , Imunoglobulina M/sangue , Lactente , Masculino , Marrocos , Infecções Oportunistas/epidemiologia , Infecções Oportunistas/microbiologia , Linfócitos T/imunologia
5.
J Clin Immunol ; 36(3): 187-94, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26931785

RESUMO

PURPOSE: X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton's tyrosine kinase (BTK) gene defect. XLA patients have absent or reduced number of peripheral B cells and a profound deficiency in all immunoglobulin isotypes. This multicenter study reports the clinical, immunological and molecular features of Bruton's disease in 40 North African male patients. METHODS: Fifty male out of 63 (male and female) patients diagnosed with serum agammaglobulinemia and non detectable to less than 2% peripheral B cells were enrolled. The search for BTK gene mutations was performed for all of them by genomic DNA amplification and Sanger sequencing. RESULTS: We identified 33 different mutations in the BTK gene in 40 patients including 12 missense mutations, 6 nonsense mutations, 6 splice-site mutations, 5 frameshift, 2 large deletions, one complex mutation and one in-frame deletion. Seventeen of these mutations are novel. This large series shows a lower frequency of XLA among male patients from North Africa with agammaglobulinemia and absent to low B cells compared with other international studies (63.5% vs. 85%). No strong evidence for genotype-phenotype correlation was observed. CONCLUSIONS: This study adds to other reports from highly consanguineous North African populations, showing lower frequency of X-linked forms as compared to AR forms of the same primary immunodeficiency. Furthermore, a large number of novel BTK mutations were identified and could further help identify carriers for genetic counseling.


Assuntos
Agamaglobulinemia/genética , Expressão Gênica , Frequência do Gene , Doenças Genéticas Ligadas ao Cromossomo X/genética , Mutação , Infecções Oportunistas/genética , Proteínas Tirosina Quinases/genética , Adulto , Tirosina Quinase da Agamaglobulinemia , Agamaglobulinemia/complicações , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/imunologia , Idade de Início , Argélia , Alelos , Linfócitos B/imunologia , Linfócitos B/patologia , Criança , Pré-Escolar , Estudos de Associação Genética , Aconselhamento Genético , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/imunologia , Heterozigoto , Humanos , Lactente , Masculino , Marrocos , Infecções Oportunistas/complicações , Infecções Oportunistas/diagnóstico , Infecções Oportunistas/imunologia , Proteínas Tirosina Quinases/imunologia , Análise de Sequência de DNA , Tunísia
6.
J Clin Immunol ; 35(8): 727-38, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26445875

RESUMO

There are now nearly 300 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. For each of these five categories, a growing variety of phenotypes are ascribed to Primary Immunodeficiency Diseases (PID), making PIDs a rapidly expanding field of medicine. The International Union of Immunological Societies (IUIS) PID expert committee (EC) has published every other year a classification of these disorders into tables, defined by shared pathogenesis and/or clinical consequences. In 2013, the IUIS committee also proposed a more user-friendly, phenotypic classification, based on the selection of key phenotypes at the bedside. We herein propose the revised figures, based on the accompanying 2015 IUIS PID EC classification.


Assuntos
Hipersensibilidade/imunologia , Síndromes de Imunodeficiência/imunologia , Infecção/imunologia , Inflamação/imunologia , Neoplasias/imunologia , Autoimunidade , Prova Pericial , Humanos , Imunidade/genética , Síndromes de Imunodeficiência/classificação , Fenótipo
8.
J Clin Immunol ; 34(4): 452-8, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24596025

RESUMO

PURPOSE: Chronic granulomatous disease (CGD) is characterized by an inability of phagocytes to produce reactive oxygen species (ROS), which are required to kill some microorganisms. CGD patients are known to suffer from recurrent bacterial and/or fungal infections from the first year of life onwards. From 2009 to 2013, 12 cases of CGD were diagnosed in Morocco. We describe here these Moroccan cases of CGD. METHODS: We investigated the genetic, immunological and clinical features of 12 Moroccan patients with CGD from 10 unrelated kindreds. RESULTS: All patients were children suffering from recurrent bacterial and/or fungal infections. All cases displayed impaired NADPH oxidase activity in nitroblue tetrazolium (NBT), dihydrorhodamine (DHR) or 2',7' dichlorofluorescein diacetate (DCFH-DA) assays. Mutation analysis revealed the presence of four different mutations of CYBB in four kindreds, a recurrent mutation of NCF1 in three kindreds, and a new mutation of NCF2 in three patients from a single kindred. A large deletion of CYBB gene has detected in a patient. The causal mutation in the remaining one kindred was not identified. CONCLUSION: The clinical features and infectious agents found in these patients were similar to those in CGD patients from elsewhere. The results of mutation analysis differed between kindreds, revealing a high level of genetic and allelic heterogeneity among Moroccan CGD patients. The small number of patients in our cohort probably reflects a lack of awareness of physicians. Further studies on a large cohort are required to determine the incidence and prevalence of the disease, and to improve the description of the genetic and clinical features of CGD patients in Morocco.


Assuntos
Aspergilose/genética , Infecções Bacterianas/genética , Doença Granulomatosa Crônica/genética , Glicoproteínas de Membrana/genética , NADPH Oxidases/genética , Adolescente , Alelos , Aspergilose/complicações , Aspergilose/imunologia , Aspergilose/patologia , Infecções Bacterianas/complicações , Infecções Bacterianas/imunologia , Infecções Bacterianas/patologia , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Genes Recessivos , Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/imunologia , Doença Granulomatosa Crônica/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , NADPH Oxidase 2 , Linhagem
9.
J Clin Immunol ; 33(6): 1078-87, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23657403

RESUMO

The number of genetically defined Primary Immunodeficiency Diseases (PID) has increased exponentially, especially in the past decade. The biennial classification published by the IUIS PID expert committee is therefore quickly expanding, providing valuable information regarding the disease-causing genotypes, the immunological anomalies, and the associated clinical features of PIDs. These are grouped in eight, somewhat overlapping, categories of immune dysfunction. However, based on this immunological classification, the diagnosis of a specific PID from the clinician's observation of an individual clinical and/or immunological phenotype remains difficult, especially for non-PID specialists. The purpose of this work is to suggest a phenotypic classification that forms the basis for diagnostic trees, leading the physician to particular groups of PIDs, starting from clinical features and combining routine immunological investigations along the way. We present 8 colored diagnostic figures that correspond to the 8 PID groups in the IUIS Classification, including all the PIDs cited in the 2011 update of the IUIS classification and most of those reported since.


Assuntos
Síndromes de Imunodeficiência/classificação , Síndromes de Imunodeficiência/diagnóstico , Guias de Prática Clínica como Assunto , Algoritmos , Diagnóstico Diferencial , Testes Diagnósticos de Rotina/normas , Genótipo , Humanos , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/imunologia , Testes Imunológicos/métodos , Fenótipo
10.
J Clin Immunol ; 33(1): 1-7, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22847546

RESUMO

PURPOSE: Primary immunodeficiency diseases (PIDs) comprise at least 176 hereditary disorders that are thought to be individually and collectively rare. The actual prevalence and incidence of PIDs remains unclear, but recent epidemiologic studies have suggested that PIDs are more common than generally thought. Based on these studies, we attempted to estimate the worldwide prevalence and incidence of PIDs. METHODS: Using data from registries and two recent epidemiologic surveys estimating the frequencies of PIDs, we extrapolated the frequencies reported for certain countries to the populations of continents and of the world. RESULTS: Our upper estimates suggest that six million people may be living with a PID worldwide, whereas only 27,000-60,000 have been identified to date (all national registries and the Jeffrey Modell Centers Network, respectively). For Europe, our upper estimate was 638,000 cases, and 15,052 cases are currently registered (2.27 %). In Africa, up to 902,631 people may have a PID, whereas only 1,016 cases are currently registered. We also found that PIDs were prevalent not only in children, but also in adults, who were strongly underrepresented in registries. CONCLUSION: Specific, dedicated epidemiologic studies are required, to obtain more realistic statistics for PIDs and to increase the awareness of physicians and public health systems about these diseases. Furthermore, the field of PIDs is continually growing, and this is likely to lead to a revision of the definition of these conditions, potentially increasing estimates of their impact on both adults and children, at the population level.


Assuntos
Imunodeficiência de Variável Comum/epidemiologia , Imunodeficiência de Variável Comum/imunologia , Adolescente , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/terapia , Doença Granulomatosa Crônica/epidemiologia , Doença Granulomatosa Crônica/imunologia , Doença Granulomatosa Crônica/terapia , Humanos , Lactente , Qualidade de Vida , Inquéritos e Questionários
11.
Ann N Y Acad Sci ; 1238: 42-52, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22129052

RESUMO

The study of inbred populations has contributed remarkably to the description of new autosomal recessive primary immunodeficiencies (PIDs). Here, we examine the pattern of PIDs in North African populations and assess the impact of highly prevalent consanguinity. This review reports on the current status of pediatricians' awareness of PIDs in Egypt, Morocco, and Tunisia, where awareness of PIDs is relatively recent. The phenotypic distribution of PIDs is reported and compared among the three countries and with other populations. Data analysis reveals a prevalence of autosomal recessive forms and a peculiar distribution of major PID categories, particularly more combined immunodeficiencies than antibody disorders. In these endogamous communities, molecular diagnosis is critical to developing a genetic-based preventive approach. The organization of diagnosis and care services in these resource-limited settings faces many obstacles. Autosomal recessive PIDs are overrepresented; thus, it is critical to continue investigation of these diseases in order to better understand the underlying mechanisms and to improve patient care.


Assuntos
Consanguinidade , Síndromes de Imunodeficiência/epidemiologia , Egito/epidemiologia , Genes Recessivos , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Marrocos/epidemiologia , Fenótipo , Tunísia/epidemiologia
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