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2.
J Clin Immunol ; 37(5): 461-475, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28536745

RESUMO

PURPOSE: Common variable immunodeficiency disorder (CVID) is a primary immunodeficiency disease (PIDD) often associated with severe and chronic infections. Patients commonly receive immunoglobulin (Ig) treatment to reduce the cycle of recurrent infection and improve physical functioning. However, how Ig treatment in CVID affects quality of life (QOL) has not been thoroughly evaluated. The purpose of a recent Immune Deficiency Foundation (IDF) mail survey was to assess the factors that are associated with QOL in patients with CVID receiving Ig treatment. METHODS: A 75-question survey developed by the IDF and a 12-item Short Form Health Survey (SF-12) to assess QOL were mailed to adults with CVID. Mean SF-12 scores were compared between patients with CVID and the general US adult population normative sample. RESULTS: Overall, 945 patients with CVID completed the surveys. More than half of the patients (54.9%) received intravenous Ig and 44.9% received subcutaneous Ig treatment. Patients with CVID had significantly lower SF-12 scores compared with the general US population regardless of sex or age (p < 0.05). Route of IgG replacement did not dramatically improve QOL. SF-12 scores were highest in patients with CVID who have well-controlled PIDD, lacked physical impairments, were not bothered by treatment, and received Ig infusions at home. CONCLUSION: These data provide insight into what factors are most associated with physical and mental health, which can serve to improve QOL in patients in this population. Improvements in QOL can result from early detection of disease, limiting digestive system disease, attention to fatigue, and implementation of an individual treatment plan for the patient.


Assuntos
Imunodeficiência de Variável Comum/epidemiologia , Qualidade de Vida , Perfil de Impacto da Doença , Adolescente , Adulto , Fatores Etários , Idade de Início , Idoso , Criança , Pré-Escolar , Tomada de Decisão Clínica , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/terapia , Bases de Dados Factuais , Gerenciamento Clínico , Feminino , Inquéritos Epidemiológicos , Humanos , Imunoglobulinas Intravenosas , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Medidas de Resultados Relatados pelo Paciente , Índice de Gravidade de Doença , Estados Unidos/epidemiologia , Adulto Jovem
6.
J Allergy Clin Immunol ; 139(1): 232-245, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27577878

RESUMO

BACKGROUND: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. OBJECTIVE: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs. METHODS: Patients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping. RESULTS: A likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays. CONCLUSION: This high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.


Assuntos
Síndromes de Imunodeficiência/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Variações do Número de Cópias de DNA , Feminino , Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Adulto Jovem
7.
Allergy Asthma Proc ; 37(6): 162-168, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27931293

RESUMO

BACKGROUND: The time from symptom onset to diagnosis for patients with primary immunodeficiency diseases (PIDD) is an average of 12 years, but prompt diagnosis and treatment can promote best outcomes. OBJECTIVE: Because the manifestations of PIDD are often sinopulmonary in nature, patients with undiagnosed PIDD are frequently referred to pulmonologists. This study sought to identify opportunities among these specialists to improve diagnosis and clinical management of patients with PIDD. METHODS: A survey was sent to American Medical Association and American Osteopathic Association members whose specialty was pulmonology. Responses were compared with those from a historical survey of 71 subspecialist immunologists (American Academy of Allergy, Asthma Immunology members who devoted 10% of their practice to patients with PIDD). RESULTS: The surveys were returned by 485 pulmonologists, 49% of whom had diagnosed at least one patient with PIDD. In comparison with subspecialist immunologists, fewer pulmonologists were aware of the professional PIDD diagnosis and management guidelines and fewer followed up patients with various PIDDs. Pulmonologists and subspecialist immunologists also differed in the practice of prescribing prophylactic antibiotics and immunoglobulin replacement and in avoiding live viral vaccines. CONCLUSION: Differences in the diagnosis and treatment of patients with PIDD between these two groups of specialists revealed areas in which PIDD-focused educational initiatives may be helpful for pulmonologists.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/terapia , Pneumologistas , Inquéritos e Questionários , Competência Clínica , Gerenciamento Clínico , Feminino , Humanos , Masculino , Padrões de Prática Médica
9.
Front Med (Lausanne) ; 3: 12, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27066486

RESUMO

Primary immunodeficiency diseases (PIDs) include over 250 diverse disorders. The current study assessed management of PID by family practice physicians. The American Academy of Allergy, Asthma, and Immunology Primary Immunodeficiency Committee and the Immune Deficiency Foundation conducted an incentivized mail survey of family practice physician members of the American Medical Association and the American Osteopathic Association in direct patient care. Responses were compared with subspecialist immunologist responses from a similar survey. Surveys were returned by 528 (of 4500 surveys mailed) family practice physicians, of whom 44% reported following ≥1 patient with PID. Selective immunoglobulin A deficiency (21%) and chronic granulomatous disease (11%) were most common and were followed by significantly more subspecialist immunologists (P < 0.05). Use of intravenously administered immunoglobulin and live viral vaccinations across PID was significantly different (P < 0.05). Few family practice physicians were aware of professional guidelines for diagnosis and management of PID (4 vs. 79% of subspecialist immunologists, P < 0.05). Family practice physicians will likely encounter patients with PID diagnoses during their career. Differences in how family practice physicians and subspecialist immunologists manage patients with PID underscore areas where improved educational and training initiatives may benefit patient care.

10.
Allergy Asthma Proc ; 36(5): 407-11, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26314823

RESUMO

Hematopoietic stem cell transplantation (HSCT) outcomes in X-linked severe combined immune deficiency are most effective when performed with patients <3 months of age and without coexisting morbidity, and with donor cells from a matched sibling. Even under such favorable circumstances, outcomes can be suboptimal, and full cellular engraftment may not be complete, which results in poor B or natural killer cell function. Protein losing enteropathies can accompany persistent immune deficiency disorders with resultant low serum globulins (immunoglobulin A [IgA], IgG, IgM) and lymphopenia. Patients with immune disorders acquire infections that can be predicted by their immune dysfunction. Fungal infections are typically noted in neutropenic (congenital or acquired) and T-cell deficient individuals. Coexisting fungal infections are rare, even in hosts who are immunocompromised, and they require careful evaluation. Antifungal treatment may result in drug-drug interactions with significant complications.


Assuntos
Bronquiectasia/diagnóstico , Budesonida/uso terapêutico , Síndrome de Cushing/diagnóstico , Combinação Fluticasona-Salmeterol/uso terapêutico , Transplante de Células-Tronco Hematopoéticas , Histoplasma/imunologia , Histoplasmose/diagnóstico , Itraconazol/uso terapêutico , Enteropatias Perdedoras de Proteínas/diagnóstico , Imunodeficiência Combinada Severa/diagnóstico , Adolescente , Bronquiectasia/etiologia , Bronquiectasia/terapia , Budesonida/efeitos adversos , Criança , Quimerismo/induzido quimicamente , Síndrome de Cushing/imunologia , Interações de Medicamentos , Combinação Fluticasona-Salmeterol/efeitos adversos , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Histoplasma/efeitos dos fármacos , Histoplasmose/etiologia , Histoplasmose/terapia , Humanos , Doença Iatrogênica , Imunossupressão , Recém-Nascido , Itraconazol/efeitos adversos , Masculino , Linhagem , Enteropatias Perdedoras de Proteínas/etiologia , Enteropatias Perdedoras de Proteínas/terapia , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/terapia , Ganho de Peso/imunologia
13.
J Allergy Clin Immunol ; 124(5): 1062-9.e1-4, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19895994

RESUMO

BACKGROUND: The effect of pretransplantation conditioning on the long-term outcomes of patients receiving hematopoietic stem cell transplantation for severe combined immunodeficiency (SCID) has not been completely determined. OBJECTIVE: We sought to assess the outcomes of 23 mostly conditioned patients with SCID and compare their outcomes with those of 25 previously reported nonconditioned patients with SCID who underwent transplantation. METHODS: In the present study we reviewed the medical records of these 23 consecutive, mostly conditioned patients with SCID who underwent transplantation between 1998 and 2007. RESULTS: Eighteen patients (median age at transplantation, 10 months; range, 0.8-108 months) received haploidentical mismatched related donor, matched unrelated donor, or mismatched unrelated donor transplants, 17 of whom received pretransplantation conditioning (with 1 not conditioned); 13 (72%) patients engrafted with donor cells and survive at a median of 3.8 years (range, 1.8-9.8 year); 5 (38%) of 13 patients require intravenous immunoglobulin; and 6 of 6 age-eligible children attend school. Of 5 recipients (median age at transplantation, 7 months; range, 2-23 months) of matched related donor transplants, all 5 engrafted and survive at a median of 7.5 years (range, 1.5-9.5 year), 1 recipient requires intravenous immunoglobulin, and 3 of 3 age-eligible children attend school. Gene mutations were known in 16 cases: mutation in the common gamma chain of the IL-2 receptor (IL2RG) in 7 patients, mutation in the alpha chain of the IL-7 receptor (IL7RA) in 4 patients, mutation in the recombinase-activating gene (RAG1) in 2 patients, adenosine deaminase deficiency (ADA) in 2 patients, and adenylate kinase 2 (AK2) in 1 patient. Early outcomes and quality of life of the previous nonconditioned versus the present conditioned cohorts were not statistically different, but longer-term follow-up is necessary for confirmation. CONCLUSIONS: Hematopoietic stem cell transplantation in patients with SCID results in engraftment, long-term survival, and a good quality of life for the majority of patients with or without pretransplantation conditioning.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Imunodeficiência Combinada Severa/cirurgia , Condicionamento Pré-Transplante , Criança , Pré-Escolar , Feminino , Doença Enxerto-Hospedeiro/imunologia , Humanos , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Qualidade de Vida , Resultado do Tratamento
15.
J Allergy Clin Immunol ; 113(4): 627-34, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15100665

RESUMO

A 5-week-old female infant with vertical HIV-1 exposure, progressive cough, and failure to thrive was given a diagnosis of bilateral diffuse nodular lung lesions. The child was without fever, leukocytosis, anemia, peripheral adenopathy, or hepatosplenomegaly, and the results of repeated blood tests for HIV-1 DNA were negative. A needle biopsy of the lungs revealed granulomatous inflammation and giant cells, with fungal organisms suggestive of Aspergillus species. A nitroblue tetrazolium dye test performed on the patient's blood specimen demonstrated absence of dye reduction, suggesting a diagnosis of chronic granulomatous disease. Further analysis revealed that the child had a deficiency of the p47(phox) component of the nicotinamide adenine dinucleotide phosphate oxidase system. Thus this child with vertical HIV-1 exposure and diffuse pulmonary nodules actually had an autosomal recessive form of chronic granulomatous disease. This case study clearly demonstrates that children with suspected HIV-1 infection might also need evaluation for primary immunodeficiency and that the clinical immunology laboratory is a powerful adjunct in coming to a correct diagnosis.


Assuntos
Exposição Ambiental , Insuficiência de Crescimento/diagnóstico , Doença Granulomatosa Crônica/diagnóstico , Infecções por HIV/diagnóstico , HIV-1 , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , NADPH Oxidases , Fosfoproteínas/deficiência , Tomografia Computadorizada por Raios X
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