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1.
Orphanet J Rare Dis ; 14(1): 61, 2019 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-30819232

RESUMO

BACKGROUND: Warts Hypogammaglobulinemia Immunodeficiency Myelokathexis (WHIM) syndrome is a primary immunodeficiency characterized by recurrent bacterial infections, severe chronic neutropenia, with lymphopenia, monocytopenia and myelokathexis which is caused by heterozygous gain of functions mutations of the CXC chemokine receptor 4 (CXCR4). WHIM patients display an increased incidence of non-hematopoietic conditions, such as congenital heart disease suggesting that abnormal CXCR4 may put these patients at increased risk of congenital anomalies. Studies conducted on CXCR4 and SDF-1-deficient mice have demonstrated the role of CXCR4 signaling in neuronal cell migration and brain development. In particular, CXCR4 conditional knockout mice display abnormal cerebellar morphology and poor coordination and balance on motor testing. RESULTS: In order to evaluate a possible neurological involvement in WHIM syndrome subjects, we performed neurological examination, including International Cooperative Ataxia Rating Scale, cognitive and psychopathological assessment and brain Magnetic Resonance Imaging (MRI) in 6 WHIM patients (age range 8-51 years) with typical gain of functions mutations of CXCR4 (R334X or G336X). In three cases (P3, P5, P6) neurological evaluation revealed fine and global motor coordination disorders, balance disturbances, mild limb ataxia and excessive talkativeness. Brain MRI showed an abnormal orientation of the cerebellar folia involving bilaterally the gracilis and biventer lobules together with the tonsils in four subjects (P3, P4, P5, P6). The neuropsychiatric evaluation showed increased risk of internalizing and/or externalizing problems in four patients (P2, P3, P4, P6). CONCLUSIONS: Taken together, these observations suggest CXCR4 gain of function mutations can be associated with cerebellar malformation, mild neuromotor and psychopathological dysfunction in WHIM patients.


Assuntos
Cerebelo/anormalidades , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/diagnóstico por imagem , Imagem por Ressonância Magnética , Transtornos Mentais/etiologia , Malformações do Sistema Nervoso/etiologia , Verrugas/complicações , Verrugas/diagnóstico por imagem , Adolescente , Adulto , Cerebelo/diagnóstico por imagem , Criança , Feminino , Mutação com Ganho de Função , Humanos , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/patologia , Pessoa de Meia-Idade , Receptores CXCR4/genética , Verrugas/genética , Verrugas/patologia , Adulto Jovem
2.
Rofo ; 191(2): 122-129, 2019 Feb.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-30180261

RESUMO

PURPOSE: The aim of the study was to evaluate high-pitch 70-kV CT examinations of the thorax in immunosuppressed patients regarding radiation dose and image quality in comparison with 120-kV acquisition. MATERIALS AND METHODS: The image data from 40 patients (14 women and 26 men; mean age: 40.9 ±â€Š15.4 years) who received high-pitch 70-kV CT chest examinations were retrospectively included in this study. A control group (n = 40), matched by age, gender, BMI, and clinical inclusion criteria, had undergone standard 120-kV chest CT imaging. All CT scans were performed on a third-generation dual-source CT unit. For an evaluation of the radiation dose, the CT dose index (CTDIvol), dose-length product (DLP), effective dose (ED), and size-specific dose estimates (SSDE) were analyzed in each group. The objective image quality was evaluated using signal-to-noise (SNR) and contrast-to-noise ratios (CNR). Three blinded and independent radiologists evaluated subjective image quality and diagnostic confidence using 5-point Likert scales. RESULTS: The mean dose parameters were significantly lower for high-pitch 70-kV CT examinations (CTDIvol, 2.9 ±â€Š0.9 mGy; DLP, 99.9 ±â€Š31.0 mGyxcm; ED, 1.5 ±â€Š0.6 mSv; SSDE, 3.8 ±â€Š1.2 mGy) compared to standard 120-kV CT imaging (CTDIvol, 8.8 ±â€Š3.7mGy; DLP, 296.6 ±â€Š119.3 mGyxcm; ED, 4.4 ±â€Š2.1 mSv; SSDE, 11.6 ±â€Š4.4 mGy) (P≤ 0.001). The objective image parameters (SNR: 7.8 ±â€Š2.1 vs. 8.4 ±â€Š1.8; CNR: 7.7 ±â€Š2.4 vs. 8.3 ±â€Š2.8) (P≥ 0.065) and the cumulative subjective image quality (4.5 ±â€Š0.4 vs. 4.7 ±â€Š0.3) (p = 0.052) showed no significant differences between the two protocols. CONCLUSION: High-pitch 70-kV thoracic CT examinations in immunosuppressed patients resulted in a significantly reduced radiation exposure compared to standard 120-kV CT acquisition without a decrease in image quality. KEY POINTS: · Third-generation dual-source CT units enable high-pitch 70-kV CT examinations of the chest.. · High-pitch 70-kV CT examinations show a significantly reduced radiation dose compared to standard 120-kV CT examinations.. · High-pitch 70-kV CT examinations of the chest show comparable objective and subjective image quality.. · Subjectively deteriorated image noise and sharpness of 70-kV CT did not impact diagnostic confidence.. CITATION FORMAT: · Yel I, Martin SS, Wichmann JL et al. Evaluation of Radiation Dose and Image Quality using High-Pitch 70-kV Chest CT in Immunosuppressed Patients . Fortschr Röntgenstr 2019; 191: 122 - 129.


Assuntos
Aumento da Imagem , Síndromes de Imunodeficiência/diagnóstico por imagem , Infecções Oportunistas/diagnóstico por imagem , Pneumonia/diagnóstico por imagem , Doses de Radiação , Tomografia Computadorizada por Raios X , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Síndromes de Imunodeficiência/imunologia , Masculino , Pessoa de Meia-Idade , Infecções Oportunistas/imunologia , Pneumonia/imunologia , Sensibilidade e Especificidade , Adulto Jovem
3.
Urologiia ; (2): 104-107, 2018 May.
Artigo em Russo | MEDLINE | ID: mdl-29901303

RESUMO

This article presents a case study of a female patient with primary immunodeficiency, who underwent percutaneous nephrolithotripsy. The presence of a serious concomitant disease affects different aspects of preoperative and postoperative management of the patient. The choice of percutaneous nephrolithotripsy is necessitated by the need to render the patient stone free using a one-stage and the most effective surgical modality. The article describes the choice of antibacterial therapy to treat inflammatory complications in this category of patients. Broad-spectrum antibiotics should be used to prevent the onset of pyelonephritis, while pyelonephritis exacerbation requires administration of reserve antibiotics in combination with human immunoglobulin.


Assuntos
Antibacterianos/administração & dosagem , Infecções Bacterianas/prevenção & controle , Síndromes de Imunodeficiência/cirurgia , Cálculos Renais/cirurgia , Nefrolitotomia Percutânea , Cuidados Pós-Operatórios/métodos , Cuidados Pré-Operatórios/métodos , Idoso , Feminino , Humanos , Síndromes de Imunodeficiência/diagnóstico por imagem , Cálculos Renais/diagnóstico por imagem
4.
J Allergy Clin Immunol ; 142(6): 1932-1946, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-29729943

RESUMO

BACKGROUND: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects. OBJECTIVE: We sought to characterize the penetrance, clinical features, and best treatment options in 133 CTLA4 mutation carriers. METHODS: Genetics, clinical features, laboratory values, and outcomes of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers. RESULTS: We identified 133 subjects from 54 unrelated families carrying 45 different heterozygous CTLA4 mutations, including 28 previously undescribed mutations. Ninety mutation carriers were considered affected, suggesting a clinical penetrance of at least 67%; median age of onset was 11 years, and the mortality rate within affected mutation carriers was 16% (n = 15). Main clinical manifestations included hypogammaglobulinemia (84%), lymphoproliferation (73%), autoimmune cytopenia (62%), and respiratory (68%), gastrointestinal (59%), or neurological features (29%). Eight affected mutation carriers had lymphoma, and 3 had gastric cancer. An EBV association was found in 6 patients with malignancies. CTLA4 mutations were associated with lymphopenia and decreased T-, B-, and natural killer (NK) cell counts. Successful targeted therapies included application of CTLA-4 fusion proteins, mechanistic target of rapamycin inhibitors, and hematopoietic stem cell transplantation. EBV reactivation occurred in 2 affected mutation carriers after immunosuppression. CONCLUSIONS: Affected mutation carriers with CTLA-4 insufficiency can present in any medical specialty. Family members should be counseled because disease manifestation can occur as late as 50 years of age. EBV- and cytomegalovirus-associated complications must be closely monitored. Treatment interventions should be coordinated in clinical trials.


Assuntos
Antígeno CTLA-4/genética , Síndromes de Imunodeficiência/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Síndromes de Imunodeficiência/diagnóstico por imagem , Síndromes de Imunodeficiência/terapia , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Adulto Jovem
5.
Pediatr Radiol ; 48(2): 279-282, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28956095

RESUMO

Copa syndrome is a newly described autosomal dominant autoinflammatory disease that presents as pulmonary hemosiderosis and polyarticular arthritis. Twenty-one cases from five families have been reported to date. We present chest computed tomography (CT) and temporomandibular joint magnetic resonance (MR) findings of a 12-year-old boy presenting with dyspnea on exertion, fatigue and clubbing. Additional findings included a restrictive pattern of pulmonary involvement and positive inflammatory markers and autoantibodies. Genetic testing revealed a p.W240R variant of the COPA gene confirming the diagnosis of Copa syndrome. CT of the chest showed a nonspecific interstitial pneumonia pattern distributed mainly in the lower lobes. MR of the temporomandibular joints and follow-up CT three years later are also described.


Assuntos
Artrite/diagnóstico por imagem , Hemossiderose/diagnóstico por imagem , Síndromes de Imunodeficiência/diagnóstico por imagem , Pneumopatias/diagnóstico por imagem , Imagem por Ressonância Magnética , Transtornos da Articulação Temporomandibular/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Artrite/tratamento farmacológico , Artrite/genética , Criança , Meios de Contraste , Diagnóstico Diferencial , Hemossiderose/tratamento farmacológico , Hemossiderose/genética , Humanos , Síndromes de Imunodeficiência/tratamento farmacológico , Síndromes de Imunodeficiência/genética , Pneumopatias/tratamento farmacológico , Pneumopatias/genética , Masculino , Mutação de Sentido Incorreto , Testes de Função Respiratória , Transtornos da Articulação Temporomandibular/tratamento farmacológico , Transtornos da Articulação Temporomandibular/genética
6.
Am J Med Genet A ; 173(9): 2522-2527, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28748650

RESUMO

Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with a crucial role in autophagosome-lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. Clinical course is variable but usually progressive and associated with high mortality. Here, we present a fetus, offspring of consanguineous parents, in whom callosal agenesis and other developmental brain abnormalities were detected on fetal ultrasound scan (US) and subsequent MRI scan in the second trimester. Postmortem examination performed after medically indicated termination of pregnancy confirmed CNS abnormalities and provided additional evidence for skin hypopigmentation, nascent cataracts, and hypertrophic cardiomyopathy. Genetic testing prompted by a suggestive combination of features revealed a homozygous EPG5 mutation (c.5870-1G>A) predicted to cause aberrant splicing of the EPG5 transcript. Our findings expand the phenotypical spectrum of EPG5-related Vici syndrome and suggest that this severe condition may already present in utero. While callosal agenesis is not an uncommon finding in fetal medicine, additional presence of hypopigmentation, cataracts and cardiomyopathy is rare and should prompt EPG5 testing.


Assuntos
Agenesia do Corpo Caloso/genética , Síndrome de Aicardi/genética , Catarata/genética , Síndromes de Imunodeficiência/genética , Proteínas/genética , Idade de Início , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/fisiopatologia , Síndrome de Aicardi/fisiopatologia , Autopsia , Catarata/diagnóstico por imagem , Catarata/fisiopatologia , Consanguinidade , Feto/diagnóstico por imagem , Feto/fisiopatologia , Humanos , Hipopigmentação/genética , Hipopigmentação/fisiopatologia , Síndromes de Imunodeficiência/diagnóstico por imagem , Síndromes de Imunodeficiência/fisiopatologia , Glicoproteínas de Membrana Associadas ao Lisossomo , Imagem por Ressonância Magnética , Mutação , Fenótipo , Diagnóstico Pré-Natal , Proteínas de Transporte Vesicular
7.
Eur Ann Allergy Clin Immunol ; 49(3): 122-128, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28497675

RESUMO

Summary: Background. Primary immunodeficiencies (PIDs) are inherited disorders in which one or several components of immune system are defected. Moreover, affected patients are at high risk for developing recurrent infections, particularly pulmonary infections. The spectrum of pulmonary manifestations in PIDs is broad, and includes acute and chronic infection, structural abnormalities (eg, bronchiectasis), malignancy and dysregulated inflammation resulting in tissue damage. In this study, our aims are to evaluate pulmonary complications in PID patients. Patients and Methods. We studied 204 cases with confirmed PID. To evaluate pulmonary complications in these patients, we used pulmonary function test (PFT), high resolution computed tomography (HRCT) scan and bronchoalveolar lavage (BAL). Results. Our results showed that pneumonia was the most frequent clinical manifestations in all PID patients. There were significantly greater numbers of episodes of pneumonia in HIgM, XLA and CVID patients with delayed diagnoses < 6 years. Moreover, of 57.4% CVID patients, 55% XLA patients and 33.3% HIgM patients had abnormal PFT results, and bronchiectasis was showed in 9 (42.9%) of XLA, 6 (11.8%) of HIES, 3 (21.4%) of HIgM and 38 (62.3%) of CVID patients. Conclusion. Pulmonary complications should be considered in cases with PIDs especially in CVID cases.


Assuntos
Síndromes de Imunodeficiência/complicações , Pneumopatias/etiologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/complicações , Estudos Transversais , Feminino , Humanos , Síndromes de Imunodeficiência/diagnóstico por imagem , Síndromes de Imunodeficiência/fisiopatologia , Masculino , Pessoa de Meia-Idade , Pneumonia/etiologia , Testes de Função Respiratória , Tomografia Computadorizada por Raios X
9.
Clin Radiol ; 72(7): 534-542, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28433201

RESUMO

Humoral primary immunodeficiency diseases (hPIDs) are a heterogeneous group of hereditary disorders resulting in abnormal susceptibility to infections of the sinopulmonary tract. Some of these conditions (e.g., common variable immunodeficiency disorders [CVID]) imply a number of non-infectious thoracic complications such as non-infectious airway disorders, diffuse lung parenchymal diseases, and neoplasms. Chest high-resolution computed tomography (HRCT) is a key imaging tool to characterise and quantify the extent of underlying thoracic involvement, as well as to direct and monitor treatment. The aims of this review are to provide a brief clinical overview of hPIDs and describe the related chest HRCT imaging features in the adult population, with a special focus on CVID and its complications.


Assuntos
Imunidade Humoral , Síndromes de Imunodeficiência/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto , Humanos , Radiografia Torácica , Tomografia Computadorizada por Raios X/métodos
11.
Clin Immunol ; 179: 1-7, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28216420

RESUMO

Here we describe novel mutations in recombination activation gene 1 (RAG1) in a compound heterozygous male patient with combined T and B cell immunodeficiency (CID). Clinical manifestations besides antibody deficiency included airway infections, granulomatosis and autoimmune features. He died at the age of 37 due to PML caused by JC virus infection. By targeted next-generation sequencing we detected post mortem in this patient three mutations in RAG1. One allele harbored two novel mutations (c.1123C>G, p.H375D and c.1430delC, p.F478Sfs*14), namely a missense variant and a frameshift deletion, of which the latter leads to a truncated RAG1 protein. The other allele revealed a previously described missense mutation (c.1420C>T, p.R474C, rs199474678). Functional analysis of the p.R474C variant in an in vitro V(D)J recombination assay exhibited reduced recombination activity compared to a wild-type control. Our findings suggest that mutations in RAG1, specifically the p.R474C variant, can be associated with relatively mild clinical symptoms or delayed occurrence of T cell and B cell deficiencies but may predispose to PML.


Assuntos
Proteínas de Homeodomínio/genética , Síndromes de Imunodeficiência/genética , Leucoencefalopatia Multifocal Progressiva/genética , Adulto , Linfócitos B/imunologia , Biópsia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Proliferação de Células , Humanos , Imunoglobulinas/sangue , Síndromes de Imunodeficiência/sangue , Síndromes de Imunodeficiência/diagnóstico por imagem , Síndromes de Imunodeficiência/imunologia , Leucoencefalopatia Multifocal Progressiva/sangue , Leucoencefalopatia Multifocal Progressiva/diagnóstico por imagem , Leucoencefalopatia Multifocal Progressiva/imunologia , Contagem de Linfócitos , Imagem por Ressonância Magnética , Masculino , Mutação , Receptores de Antígenos de Linfócitos T/imunologia , Linfócitos T/imunologia , Recombinação V(D)J
12.
Clin Genet ; 92(2): 204-207, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28094436

RESUMO

The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA). Through the Finnish Skeletal Dysplasia Register, we identified 3 additional patients with identical genotype. Two of them also showed unusually mild growth failure (height SDS -1.6 at 14 years and -3.0 at 12 years, respectively). Three of the 4 patients suffered from recurrent infections; 1 developed progressive bronchiectasis and another died from aggressive lymphoma. Our findings expand the phenotypic variability in CHH to include normal childhood height. The milder growth retardation related to this particular genotype was not associated with less severe extra-skeletal manifestations, emphasizing the need for careful follow-up also in CHH patients with mild-skeletal manifestations.


Assuntos
Predisposição Genética para Doença , Cabelo/anormalidades , Doença de Hirschsprung/genética , Doença de Hirschsprung/fisiopatologia , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/fisiopatologia , Osteocondrodisplasias/congênito , RNA Longo não Codificante/genética , Adulto , Estatura/genética , Criança , Genótipo , Cabelo/diagnóstico por imagem , Cabelo/fisiopatologia , Doença de Hirschsprung/diagnóstico por imagem , Humanos , Síndromes de Imunodeficiência/diagnóstico por imagem , Masculino , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Osteocondrodisplasias/fisiopatologia , Radiografia , Adulto Jovem
13.
J Pediatr Hematol Oncol ; 39(4): e196-e198, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-27403772

RESUMO

Primary myelofibrosis (PMF) is rarely diagnosed in children, and in most cases in children younger than 3 years old. Pediatric PMF generally follows a benign course and is usually managed supportively with blood transfusions and prophylactic antibiotics for infections. We present a case of a 17-year-old girl diagnosed with PMF at the age of 14 years. A computed tomography scan performed at the time of an appendectomy showed congenital asplenism. To our knowledge, this is only the third case of myelofibrosis and congenital asplenism to be reported in the literature. Whether asplenism contributed to the development of myelofibrosis is not known.


Assuntos
Síndromes de Imunodeficiência/diagnóstico por imagem , Mielofibrose Primária/diagnóstico , Baço/anormalidades , Adolescente , Feminino , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/diagnóstico , Mielofibrose Primária/complicações , Baço/diagnóstico por imagem , Tomografia Computadorizada por Raios X
14.
Physiol Res ; 66(1): 113-123, 2017 03 31.
Artigo em Inglês | MEDLINE | ID: mdl-27782744

RESUMO

To evaluate the preclinical efficacy and safety of human mesenchymal stem cells (hMSC) rapidly expanded in growth medium for clinical use with human serum and recombinant growth factors, we conducted a controlled, randomized trial of plasma clots with hMSC vs. plasma clots only in critical segmental femoral defects in rnu/rnu immunodeficient rats. X-ray, microCT and histomorphometrical evaluation were performed at 8 and 16 weeks. MSC were obtained from healthy volunteers and patients with lymphoid malignancy. Human MSC survived in the defect for the entire duration of the trial. MSC from healthy volunteers, in contrast to hMSC from cancer patients, significantly improved bone healing at 8, but not 16 weeks. However, at 16 weeks, hMSC significantly improved vasculogenesis in residual defect. We conclude that hMSC from healthy donors significantly contributed to the healing of bone defects at 8 weeks and to the vascularisation of residual connective tissue for up to 16 weeks. We found the administration of hMSC to be safe, as no adverse reaction to human cells at the site of implantation and no evidence of migration of hMSC to distant organs was detected.


Assuntos
Síndromes de Imunodeficiência/imunologia , Síndromes de Imunodeficiência/terapia , Transplante de Células-Tronco Mesenquimais/métodos , Osteogênese/fisiologia , Cicatrização/fisiologia , Adulto , Idoso , Animais , Feminino , Fêmur/diagnóstico por imagem , Fêmur/fisiologia , Humanos , Síndromes de Imunodeficiência/diagnóstico por imagem , Masculino , Células-Tronco Mesenquimais/fisiologia , Pessoa de Meia-Idade , Distribuição Aleatória , Ratos , Ratos Nus , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
15.
Pediatr Radiol ; 46(12): 1630-1644, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27655432

RESUMO

Primary immunodeficiencies are a group of genetically determined disorders with diverse presentations. The purpose of this review is to provide a practical and brief description of a select number of these diseases and to discuss the important role the radiologist can have in making an early diagnosis and in detecting and following disease complications. The role of diagnostic imaging and informed performance and interpretation are vital in the diagnosis, surveillance and management of all primary immunodeficiency disorders.


Assuntos
Diagnóstico por Imagem/métodos , Síndromes de Imunodeficiência/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Humanos , Lactente
16.
Clin Immunol ; 171: 12-17, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27497628

RESUMO

Good syndrome (GS) or thymoma-associated immunodeficiency, is a rare condition that has only been studied in retrospective case series. General consensus was that GS has a worse prognosis than other humoral immunodeficiencies. In this study, physicians of GS patients completed two questionnaires with a two year interval with data on 47 patients, 499 patient years in total. Results on epidemiology, disease characteristics, and outcome are presented. Mean age at diagnosis was 60years and median follow-up from onset of symptoms was 9years. There was a high frequency of respiratory tract infections due to encapsulated bacteria. Median survival was 14years. Survival was reduced compared to age-matched population controls (5-year survival: 82% versus 95%, p=0.008). In this cohort survival was not associated with gender (HR 0.9, 95% CI 0.3-3.0), autoimmune diseases (HR 2.9, 95% CI 0.8-10.1) or immunosuppressive use (HR 0.3, 95% CI: 0.1-1.2).


Assuntos
Síndromes de Imunodeficiência/epidemiologia , Timoma/epidemiologia , Neoplasias do Timo/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Doenças Autoimunes/diagnóstico por imagem , Doenças Autoimunes/epidemiologia , Criança , Feminino , Humanos , Síndromes de Imunodeficiência/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Prognóstico , Inquéritos e Questionários , Timoma/diagnóstico por imagem , Neoplasias do Timo/diagnóstico por imagem
17.
Intern Med ; 55(16): 2259-64, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27523005

RESUMO

Primary bone lymphoma (PBL) is a rare disorder. We herein present a case of other iatrogenic immunodeficiency-associated lymphoproliferative disorder (OIIA-LPD) presenting as PBL. A 63-year-old woman was diagnosed with rheumatoid arthritis and had been treated with methotrexate for seven years. Two months before admission, she suffered from pain in the limbs. Magnetic resonance imaging revealed multiple irregular lesions in the bones of the limbs, which showed an uptake of (18)F-FDG on positron emission tomography. A biopsy of the right radius revealed diffuse large B-cell lymphoma, leading to the diagnosis of OIIA-LPD. She received rituximab-containing regimens resulting in a complete response.


Assuntos
Síndromes de Imunodeficiência/diagnóstico por imagem , Linfoma Difuso de Grandes Células B/diagnóstico por imagem , Transtornos Linfoproliferativos/diagnóstico por imagem , Idoso , Artrite Reumatoide/diagnóstico por imagem , Feminino , Humanos , Doença Iatrogênica , Síndromes de Imunodeficiência/tratamento farmacológico , Síndromes de Imunodeficiência/patologia , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/patologia , Transtornos Linfoproliferativos/tratamento farmacológico , Transtornos Linfoproliferativos/patologia
19.
Clin Infect Dis ; 62(8): 986-94, 2016 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-26743090

RESUMO

BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a rare, severe, otherwise fatal viral infection of the white matter of the brain caused by the polyomavirus JC virus, which typically occurs only in immunocompromised patients. One patient with dominant gain-of-function (GOF) mutation in signal transducer and activator of transcription 1 (STAT1) with chronic mucocutaneous candidiasis and PML was reported previously. We aim to identify the molecular defect in 3 patients with PML and to review the literature on PML in primary immune defects (PIDs). METHODS: STAT1 was sequenced in 3 patients with PML. U3C cell lines were transfected with STAT1 and assays to search for STAT1 phosphorylation, transcriptional response, and target gene expression were performed. RESULTS: We identified 3 new unrelated cases of PML in patients with GOF STAT1 mutations, including the novel STAT1 mutation, L400Q. These STAT1 mutations caused delayed STAT1 dephosphorylation and enhanced interferon-gamma-driven responses. In our review of the literature regarding PML in primary immune deficiencies we found 26 cases, only 54% of which were molecularly characterized, the remainder being syndromically diagnosed only. CONCLUSIONS: The occurrence of PML in 4 cases of STAT1 GOF suggests that STAT1 plays a critical role in the control of JC virus in the central nervous system.


Assuntos
Síndromes de Imunodeficiência/genética , Leucoencefalopatia Multifocal Progressiva/genética , Mutação , Fator de Transcrição STAT1/genética , Fator de Transcrição STAT1/fisiologia , Adulto , Encéfalo/diagnóstico por imagem , Linhagem Celular Tumoral , Feminino , Regulação da Expressão Gênica , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/diagnóstico por imagem , Interferon gama/farmacologia , Vírus JC/crescimento & desenvolvimento , Leucoencefalopatia Multifocal Progressiva/complicações , Leucoencefalopatia Multifocal Progressiva/diagnóstico por imagem , Leucoencefalopatia Multifocal Progressiva/imunologia , Masculino , Pessoa de Meia-Idade , Análise de Sequência de DNA , Ativação Transcricional , Carga Viral , Adulto Jovem
20.
Adv Exp Med Biol ; 764: 167-77, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23654066

RESUMO

Primary Immunodeficiencies (PIDs), although rare, are serious and heightened clinical suspicion leads to earlier diagnosis and improved outcome. Recognition of PIDs may be difficult as infections are common in young children in particular. Clues to the diagnosis of PID may be found in history, examination and initial basic investigations such as lymphocyte count. Age at presentation, type of infective organism and family history help focus on likely PIDs. Type of infective organism may indicate a specific PID, for example Aspergillus and Chronic Granulomatous Disease and Pneumocystis Jiroveci and SCID amongst others. Diagnostic aids such as 'The 10 Warning Signs of Primary Immunodeficiency' can be useful with failure to thrive, need for IV antibiotics, and family history of severe or unusual infections being the most discriminating. Systemic examination including the recognition of dysmorphic features may also support a particular diagnosis.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Fatores Etários , Família , Humanos , Hospedeiro Imunocomprometido/imunologia , Síndromes de Imunodeficiência/sangue , Síndromes de Imunodeficiência/diagnóstico por imagem , Síndromes de Imunodeficiência/microbiologia , Especificidade de Órgãos , Radiografia
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