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1.
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
2.
J Clin Immunol ; 27(6): 640-6, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17851739

RESUMO

X-linked agammaglobulinemia (XLA) is characterized by low levels of B-lymphocytes with early-onset, recurrent, microbial infections occasionally causing neurological symptoms. We observed an atypical clinical course of XLA, complicated since early childhood with neurological impairment, progressive sensorineural deafness, and dystonia in six boys of four unrelated families. The neurologic symptoms suggested the diagnosis of Mohr-Tranebjaerg syndrome, caused by mutations in the TIMM8A gene, previously known as DDP1, and located centromerically of BTK. Deafness dystonia peptide (DDP1) participates in neurological development and is a part of the mitochondrial protein import pathway. Mutation analysis of the BTK gene revealed gross deletions of different lengths in all patients, in one case extending approximately 196 kb, including the genes TIMM8A, TAF7L, and DRP2. The most prominent clinical findings of this contiguous deletion syndrome are the combination of immunodeficiency and sensorineural deafness, which were present in all affected boys. The severity of symptoms, however, did not correlate with the extent of the deletion.


Assuntos
Agamaglobulinemia/genética , Deleção Cromossômica , Cromossomos Humanos X/genética , Peptídeos e Proteínas de Sinalização Intercelular/genética , Proteínas de Membrana Transportadoras/genética , Proteínas do Tecido Nervoso/genética , Proteínas Tirosina Quinases/genética , Fatores Associados à Proteína de Ligação a TATA/genética , Fator de Transcrição TFIID/genética , Adolescente , Adulto , Tirosina Quinase da Agamaglobulinemia , Criança , Mapeamento Cromossômico , Estudos de Coortes , Diagnóstico Diferencial , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Lactente , Masculino , Proteínas do Complexo de Importação de Proteína Precursora Mitocondrial , RNA Polimerase II/genética
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