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1.
J Clin Immunol ; 42(8): 1660-1671, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35838820

RESUMO

INTRODUCTION: Inborn errors of immunity (IEI) represent a heterogeneous large group of genetic disorders characterized by susceptibility of affected individuals to recurrent infections, autoimmune/inflammatory diseases, allergy, and malignancy. We aimed to report for the first time the Algerian registry for IEI in children. METHODS: We described the characteristics of IEI in Algerian children from the data collected in the Algerian registry for IEI between 1985 and 2021. RESULTS: Over a period of 37 years, we included 887 children (530 male, 59.6%) with a mean age at diagnosis of 3.23 years and a mean diagnosis delay of 2 years. The prevalence rate was estimated at 1.97/100,000 inhabitants or 5.91/100,000 children. The parental consanguinity was found in 52.6%. The most prevalent category was combined immunodeficiencies (CID) (35.5%), followed by predominantly antibody deficiencies (24.5%) and CID with syndromic features (18.3%). The most predominant diseases were severe CID (134 cases), MHC II deficiency (99 cases), agammaglobulinemia (82 cases), common variable immunodeficiency (78 cases), hyper IgE syndromes (61 patients), ataxia-telangiectasia (46 patients), Wiskott-Aldrich syndrome (40 patients) and chronic granulomatous disease (39 cases). The clinical presentation was dominated by lower respiratory tract infections (69%), failure to thrive (38.3%), and chronic diarrhea (35.2%). Genetic analysis was performed in 156 patients (17.6%). The global mortality rate was 28.4% mainly caused by CID. CONCLUSION: This is the first report of the Algerian registry for IEI in children. Data is globally similar to that of the Middle East and North African (MENA) registries with high consanguinity, predominance of CID, and significant mortality. This registry highlights the weak points that should be improved in order to provide better patient care.


Assuntos
Agamaglobulinemia , Síndromes de Imunodeficiência , Doenças da Imunodeficiência Primária , Criança , Humanos , Masculino , Argélia/epidemiologia , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/genética , Agamaglobulinemia/epidemiologia , Sistema de Registros
2.
Clin Lab ; 64(4): 551-558, 2018 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-29739080

RESUMO

BACKGROUND: Multiple myeloma is characterized by underlying clinical and biological heterogeneity, which translates to variable responses to treatment and outcome. METHODS: To assess the roles of serum free light chain (sFLC) and K/L FLC ratio (rFLC) in the diagnoses and prognoses of multiple myeloma (MM), sFLC levels and K/L ratios were measured in 112 patients with newly diagnosed multiple myeloma using the Freelite automated immunoassay. RESULTS: Abnormal sFLC and/or rFLC levels were detected 99.1% of the patients. The baseline sFLC predicted the overall survival (OS). The median OSs were not reached (NR) and were 30 months in the low sFLC group (sFLC-K < 132 mg/L or sFLC-L < 342 mg/L) and the high sFLC group (sFLC-K ≥ 132 mg/L or sFLC-L ≥ 342 mg/ L) (p < 0.001), respectively. Similarly, the rFLC successfully predicted the OS times of 29 months for group A (rFLC ≤ 0.03 or ≥ 32) and NR for group B (0.03 < rFLC < 32) (p < 0.001). According to the response to treatment and sFLC ratio, significant differences in the OSs were observed between the partial response group and other patients, (respectively, OS median = 28 months vs. NR, log rank p < 0.001). Additionally, the patients were further stratified into two groups using the novel poor-prognosis factors (rFLC > 32 or < 0.03) combined with the International Staging System parameters (beta2-microglobulin, albumin), i.e., a low-risk group (those with zero or one factor) and a high-risk group (those with two or three factors). The median OSs for the low- and high-risk groups were NR and 29 months, respectively (p = 0.001). CONCLUSIONS: The sFLC assay was extremely sensitive in the diagnosis of MM. In addition to its strong prognosis value, it could be a predictor of response to therapy.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biomarcadores Tumorais/sangue , Cadeias Leves de Imunoglobulina/sangue , Mieloma Múltiplo/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/sangue , Mieloma Múltiplo/diagnóstico , Avaliação de Resultados em Cuidados de Saúde/métodos , Avaliação de Resultados em Cuidados de Saúde/estatística & dados numéricos , Estudos Retrospectivos
3.
Clin Immunol ; 161(2): 286-90, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26387629

RESUMO

X linked agammaglobulinemia (XLA) is the first described primary immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent infections, profound decrease of all immunoglobulin isotypes and very low level of B lymphocytes in peripheral blood. The disorder is caused by mutations in the Bruton's Tyrosine Kinase (BTK). Nine male patients suspected to have XLA from nine unrelated families were enrolled in this study. We performed sequencing of the BTK gene in all nine patients, and in the patients' relatives when possible. The XLA diagnosis was confirmed for six patients with six different mutations; we identified a novel mutation (c.1522G>A) and five known mutations. One third of nine unrelated patients do not have mutations in BTK and thus likely suffer from autosomal recessive agammaglobulinemia in the setting of consanguinity. Our results support that the autosomal recessive agammaglobulinemia can be more common in Algeria.


Assuntos
Agamaglobulinemia/genética , Linfócitos B/metabolismo , Doenças Genéticas Ligadas ao Cromossomo X/genética , Predisposição Genética para Doença/genética , Linfopenia/genética , Mutação , Proteínas Tirosina Quinases/genética , Adulto , Tirosina Quinase da Agamaglobulinemia , Argélia/epidemiologia , Sequência de Bases , Criança , Pré-Escolar , Análise Mutacional de DNA , Saúde da Família , Humanos , Imunoglobulinas/sangue , Lactente , Contagem de Linfócitos , Linfopenia/patologia , Masculino , Linhagem , Prevalência , Índice de Gravidade de Doença
4.
Allergy Asthma Clin Immunol ; 8(1): 14, 2012 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-22863278

RESUMO

Presenting processed antigens to CD4+ lymphocytes during the immune response involves major histocompatibility complex class II molecules. MHC class II genes transcription is regulated by four transcription factors: CIITA, RFXANK, RFX5 and RFXAP. Defects in these factors result in major histocompatibility complex class II expression deficiency, a primary combined immunodeficiency frequent in North Africa. Autosomal recessive mutations in the RFXANK gene have been reported as being the principal defect found in North African patients with this disorder. In this paper, we describe clinical, immunological and genetic features of 11 unrelated Algerian patients whose monocytes display a total absence of MHC class II molecules. They shared mainly the same clinical picture which included protracted diarrhoea and respiratory tract recurrent infections. Genetic analysis revealed that 9 of the 11 patients had the same RFXANK founder mutation, a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). Immunological and genetic findings in our series may facilitate genetic counselling implementation for Algerian consanguineous families. Further studies need to be conducted to determine 752delG26 heterozygous mutation frequency in Algerian population.

5.
Int J Rheum Dis ; 20(12): 1993-1997, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24447879

RESUMO

INTRODUCTION: Rheumatoid arthritis (RA) is a chronic, systemic, inflammatory and multifactorial disease. Genetic predisposition seems to play an important role. The aim of this study is to explore the relationship between human leukocyte antigen (HLA)-DRB1 alleles and susceptibility, clinical and biological features of RA in an Algerian patient population. METHODS: Using polymerase chain reaction - sequence specific primers (SSP), 134 RA patients and 132 healthy controls were genotyped for HLA-DRB1 and HLA-DRB1*04 subtypes. RESULTS: HLA-DRB1*04 was found to have increased frequency in the RA group compared to controls (P < 0.001, OR = 3.14), and was associated with anti-citrullinated protein antibodies positivity (ACPA) (P = 0.01, OR = 2.35). In contrast, HLA-DRB1*07 was found to have a decreased frequency in patients compared to controls (P = 0.003, OR = 0.44) and significant decrease was observed in patients with the rheumatoid factor (RF) positivity subgroup (P = 0.009, OR = 0.29). HLA-DRB1*04:05 was associated with RA (P = 0.005, OR = 3.41), whereas, HLA-DRB1*04:02 showed a protective effect against RA (P = 0.003, OR = 0.20). CONCLUSIONS: HLA-DRB1*04 was associated with increased risk for RA and ACPA positivity, while HLA-DRB1*07 was associated with reduced risk for RA and RF synthesis in Algerian patients.


Assuntos
Artrite Reumatoide/genética , Cadeias HLA-DRB1/genética , Adulto , Argélia , Anticorpos Antiproteína Citrulinada/sangue , Artrite Reumatoide/sangue , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/imunologia , Biomarcadores/sangue , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Feminino , Frequência do Gene , Estudos de Associação Genética , Marcadores Genéticos , Predisposição Genética para Doença , Cadeias HLA-DRB1/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Fenótipo , Fatores de Proteção , Fator Reumatoide/sangue , Fatores de Risco , Adulto Jovem
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