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1.
Rev Prat ; 69(6): 659-665, 2019 Jun.
Artigo em Francês | MEDLINE | ID: mdl-31626429

RESUMO

Primary immune deficiencies (PIDs) include rare and heterogeneous syndromes due to genetic abnormalities involving the immune system. In the registry of the French National Reference Center for Primary Immune Deficiencies (CEREDIH), the median age of clinical onset is 2 years, but 25% of patients develop the first symptoms after 15 years. A diagnosis of PID should be considered in the presence of an unusual association of infections, autoimmune pathologies, granulomatous disease, polyclonal lymphoproliferation or atypical lymphoma. PID management currently benefits from new antibiotic prophylaxis, the improvement of allogeneic hematopoietic stem cell transplantation procedure and the development of gene therapy. In addition, the understanding of the pathophysi ological mechanisms led to new treatments targeting the pathways implicated by the genetic defects. In this review, we briefly recall the classification of PID. We illustrate the problem of PID in adults with clinical cases and then summarize the main principles of management in adults PID patients.


Assuntos
Síndromes de Imunodeficiência , Adulto , Criança , Pré-Escolar , Terapia Genética , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/imunologia , Síndromes de Imunodeficiência/terapia , Sistema de Registros
2.
Afr Health Sci ; 19(1): 1449-1459, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31148972

RESUMO

Background: Primary immunodeficiency diseases (PID) comprise a group of more than 300 diseases that affect development and /or function of the immune system. Objectives: The aim of this study was diagnosis of PID among a suspected group of neonates and infants within the first six months of life as well as identifying the warning signs of PID characteristic to this period. Method: Fifty neonates presenting with warning signs of PID were enrolled in the study. Results: The study revealed that twenty six patients (52%) were diagnosed with Primary Immunodeficiency, T cell/combined immunodeficiency were noted as the most common PID class (88.5%) with fourteen T-B-SCID patients (70%) and six T-B+ SCID patients (30%), phagocytic disorders were estimated to be 7.7% while 3.8% were unclassified immunodeficiency. The mean age of presentation for PID group was 1.42±1.38 months with a diagnostic lag of 3.08±1.78 months. Consanguinity was positive in 76.9% of the PID group. Lower respiratory tract infections, persistent fungal infections and lymphopenia were the most significant warning signs for diagnosing PID with a p value of (0.01). Combined, lower respiratory tract infections, fungal infections and lymphopenia were 12.3 times more likely to be associated with PID. Conclusion: Focused screening in high risk neonates proved to be a valuable tool for diagnosis of PID disorders.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Infecção/epidemiologia , Triagem Neonatal , Imunodeficiência Combinada Severa/epidemiologia , Infecções Bacterianas/diagnóstico , Consanguinidade , Egito/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Imunodeficiência Combinada Severa/diagnóstico
3.
Int J Lab Hematol ; 41 Suppl 1: 63-72, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31069989

RESUMO

Primary immunodeficiencies (PID) or inborn errors of immunity affect phenotype and/or function of one or more components of the immune system. The exponential growth of genetic analysis has enabled identification of known and novel mutations. However, genetic analysis continues to be expensive and is not easily accessible. Flow cytometry, on the other hand, has been well established for many years in clinical laboratories and its use for the analysis of immunodeficiencies is expanding. Surface, intracellular, and intranuclear proteins can easily be evaluated by flow cytometry, enabling both phenotypic and functional identification of specific cell populations and therefore facilitating the identification of a variety of PIDs. While genetic analysis provides a definitive diagnosis for PIDs, flow cytometry is necessary to confirm or establish the immune phenotype of a gene mutation. Furthermore, flow cytometry provides a rapid means to identify an immunological defect at a relatively low cost.


Assuntos
Citometria de Fluxo/métodos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/imunologia , Testes Genéticos , Humanos , Síndromes de Imunodeficiência/sangue , Síndromes de Imunodeficiência/genética , Mutação , Fenótipo
4.
HNO ; 67(11): 819-824, 2019 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-31119330

RESUMO

BACKGROUND: Primary immunodeficiency is a rare disease of humoral and cellular immune defense, which can lead to severe and recurrent infections of different organs. The diagnosis of this disease is often difficult, and its early identification is necessary for adequate treatment and control. OBJECTIVE: This study aimed to analyze ear, nose, and throat (ENT) infections in adults and children with a primary immunodeficiency. We attempted to characterize possible warning signs that should trigger an immunologic diagnostic workup. MATERIALS AND METHODS: The current study comprised a retrospective case series of patients with primary immunodeficiencies. The type of immunodeficiency and the number of ENT infections were recorded. RESULTS: A total of 85 Patients were included in the study. 56 patients (66%) had an acute exacerbation of chronic rhinosinusitis (n = 28), cervical lymphadenitis (n = 16), acute tonsillitis (n = 14), and acute otitis media (n = 6). Reporting detailed information about the frequencies and dates of infections was not possible, due to the retrospective nature of the analysis. CONCLUSION: The prevalence of ENT infections in patients with a primary immunodeficiency is increased compared to the normal population. For the ENT specialist, these findings underline the necessity of including primary immunodeficiency in the differential diagnosis and initiating targeted diagnostic methods where indicated. Interdisciplinary collaboration with rheumatologists and immunologists is highly recommended, particularly for pediatric patients.


Assuntos
Síndromes de Imunodeficiência , Otite Média , Abscesso Peritonsilar , Sinusite , Adulto , Criança , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/diagnóstico , Otite Média/imunologia , Abscesso Peritonsilar/imunologia , Estudos Retrospectivos , Sinusite/imunologia
5.
Medicine (Baltimore) ; 98(18): e15329, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31045771

RESUMO

RATIONALE: Gain of function (GOF) mutations in PIK3CD gene encoding PI3K p110δ were recently associated with a novel combined immune deficiency characterized by recurrent sinopulmonary infections, CD4 lymphopenia, reduced class-switched memory B cells, lymphadenopathy, cytomegalovirus and/or epstein-Barr virus (EBV) viremia, and EBV-related lymphoma. A subset of affected patients also had elevated serum IgM. PATIENT CONCERNS: We report a patient who was diagnosed with systemic lupus erythematosus (SLE) at a young age and was recently found to carry heterozygous mutations in PIK3CD. The patient not only presented with recurrent sinopulmonary infections, CD4 lymphopenia, lymphadenopathy, EBV viremia, and elevated serum IgM, but also met classification criteria of SLE based on persistent proteinuria and hematuria, leukopenia and anemia, low level of serum complement, and positive autoantibody for antinuclear antibodies. DIAGNOSES: Activated PI3Kδ syndrome. INTERVENTIONS: Oral prednisolone and hydroxychloroquine combined with mycophenolate mofetil was given to the patient. He was currently receiving intravenous immunoglobulin per month in association with hydroxychloroquine, low-dose prednisolone, and mycophenolate mofetil. OUTCOMES: At present, the level of complement restored to normal, hematuria and proteinuria disappeared, and liver function returned to normal. LESSONS: SLE may be a novel phenotype of GOF mutation in PI3CKD gene (GOF PIK3CD).


Assuntos
Classe I de Fosfatidilinositol 3-Quinases/genética , Mutação com Ganho de Função/genética , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Lúpus Eritematoso Sistêmico/genética , Adolescente , Anticorpos Antinucleares/sangue , Grupo com Ancestrais do Continente Asiático/genética , Classe I de Fosfatidilinositol 3-Quinases/efeitos dos fármacos , Proteínas do Sistema Complemento/análise , Proteínas do Sistema Complemento/efeitos dos fármacos , Inibidores Enzimáticos/uso terapêutico , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/etiologia , Infecções por Vírus Epstein-Barr/imunologia , Glucocorticoides/uso terapêutico , Herpesvirus Humano 4/imunologia , Humanos , Hidroxicloroquina/administração & dosagem , Hidroxicloroquina/uso terapêutico , Imunoglobulinas Intravenosas/uso terapêutico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Lúpus Eritematoso Sistêmico/etiologia , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Ácido Micofenólico/administração & dosagem , Ácido Micofenólico/uso terapêutico , Fenótipo , Prednisolona/administração & dosagem , Prednisolona/uso terapêutico
6.
Rev Med Suisse ; 15(645): 719-722, 2019 Apr 03.
Artigo em Francês | MEDLINE | ID: mdl-30942969

RESUMO

Primary immunodeficiencies (PID) constitute a heterogeneous group of genetic disorders caused by defects in the development and/or function of the immune system resulting in an increased susceptibility to recurrent infections. In addition to a predisposition to infections, PID patients present an increased vulnerability to autoimmunity, lymphoproliferation, allergies and malignancies. Studies performed in the past decade revealed that the prevalence of PID in adults was largely underestimated. These have also demonstrated that the disease burden of PID is not less than in children. PID is more common than generally thought.


Assuntos
Hipersensibilidade , Síndromes de Imunodeficiência , Infecção , Adulto , Autoimunidade , Humanos , Hipersensibilidade/complicações , Hipersensibilidade/etiologia , Síndromes de Imunodeficiência/diagnóstico , Infecção/complicações , Infecção/etiologia , Prevalência
7.
Tohoku J Exp Med ; 247(4): 265-269, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-31006737

RESUMO

Chronic granulomatous disease (CGD) is a type of primary immunodeficiency disease, which increases susceptibility to recurrent bacterial and fungal infections. Sputum and bronchoalveolar lavage fluid are often obtained using bronchoscopy from adult patients for pathogenic diagnosis, although this approach is much more invasive for infants. We report the case of a 2-month-old boy with CGD, in which gastric aspirate culture was used to diagnose fungal pneumonia. Rasamsonia piperina was isolated from the gastric aspirate, and the patient was successfully treated with micafungin based on the drug susceptibility test results for the fungal isolate. The acid tolerance test revealed that R. piperina could grow at pH 2, indicating high acid resistance. Although we can only report our experience with a single case, gastric aspirate culture may be a useful tool for detecting fungal respiratory pathogens in children with primary immunodeficiency. Detecting these pathogens may help improve outcomes, as early diagnosis and appropriate treatment are extremely important for immunocompromised patients with respiratory infections.


Assuntos
Ascomicetos/fisiologia , Síndromes de Imunodeficiência/congênito , Síndromes de Imunodeficiência/diagnóstico , Micoses/microbiologia , Pneumonia/complicações , Pneumonia/microbiologia , Estômago/patologia , Humanos , Concentração de Íons de Hidrogênio , Síndromes de Imunodeficiência/complicações , Lactente , Pneumonia/diagnóstico por imagem , Sucção , Tomografia Computadorizada por Raios X
9.
Immunol Invest ; 48(4): 410-430, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30885031

RESUMO

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive primary immunodeficiency disorder characterized by decreased numbers of T-cells, variable B-cell abnormalities, decreased amount of serum uric acid and PNP enzyme activity. The affected patients usually present with recurrent infections, neurological dysfunction and autoimmune phenomena. In this study, whole-exome sequencing was used to detect mutation in the case suspected of having primary immunodeficiency. We found a homozygous mutation in PNP gene in a girl who is the third case from the national Iranian registry. She had combined immunodeficiency, autoimmune hemolytic anemia and a history of recurrent infections. She developed no neurological dysfunction. She died at the age of 11 after a severe chicken pox infection. PNP deficiency should be considered in late-onset children with recurrent infections, autoimmune disorders without typical neurologic impairment.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Purina-Núcleosídeo Fosforilase/deficiência , Erros Inatos do Metabolismo da Purina-Pirimidina/diagnóstico , Anemia Hemolítica Autoimune , Varicela , Criança , Evolução Fatal , Feminino , Humanos , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Síndromes de Imunodeficiência/genética , Mutação de Sentido Incorreto , Purina-Núcleosídeo Fosforilase/genética , Erros Inatos do Metabolismo da Purina-Pirimidina/genética
10.
Scand J Immunol ; 89(6): e12763, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30887554

RESUMO

The clinical consequences of isolated decreased serum immunoglobulin (Ig)M are not sufficiently known. Therefore, it is difficult to determine the clinical policy following such a finding. Only few reported IgM-deficient patients fulfil the European Society for Immunodeficiencies (ESID) diagnostic criteria for selective IgM deficiency (true sIgMdef), or their diagnosis is uncertain due to insufficient laboratory data (possible sIgMdef). Decreased serum IgM is often incidentally found in asymptomatic adults. The objective of our study was to further characterize true sIgMdef and to compare the European data collected through the ESID Registry community (tertiary centres) to our previously published Dutch cohort (secondary centre). Fifteen centres (12 countries) participated with 98 patients. Patients were excluded if serum IgM was only determined once (n = 14), had normalized (n = 8), or if they also had other immunological abnormalities (n = 15). Ten patients (5 adults) completely fulfilled the ESID criteria for true sIgMdef. Age-matched cut-off values varied widely between centres; when using the ESID diagnostic protocol reference values, only six patients (five adults) had true sIgMdef. Because of these small numbers, further analyses were performed in patients with true or possible sIgMdef (13 adults, 48 children). Respiratory infections were commonly reported at presentation (adults 54%, children 60%). Symptomatic adults had lower serum IgM levels (mean 0.27 g/L, 95% CI 0.22-0.31) than those without symptoms (mean 0.33 g/L, 95% CI 0.30-0.36; P = 0.02). To be able to explore the clinical consequences of true sIgMdef, we should fully analyse and accurately describe those patients in whom a decreased serum IgM is found.


Assuntos
Subpopulações de Linfócitos B/imunologia , Imunoglobulina M/sangue , Síndromes de Imunodeficiência/diagnóstico , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/imunologia , Subpopulações de Linfócitos T/imunologia , Adolescente , Adulto , Doenças Assintomáticas/epidemiologia , Subpopulações de Linfócitos B/citologia , Criança , Pré-Escolar , Feminino , Humanos , Síndromes de Imunodeficiência/sangue , Síndromes de Imunodeficiência/imunologia , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Subpopulações de Linfócitos T/citologia , Adulto Jovem
12.
Pediatr Dermatol ; 36(2): 258-259, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30746751

RESUMO

Neutrophilic panniculitis (NP) with myelodysplasia has been described in adults but not in children. We report a case of NP associated with myelodysplasia in a child with MYSM1 deficiency, a newly described syndrome with primary immunodeficiency (PI), bone marrow failure, and developmental aberrations.


Assuntos
Proteínas de Ligação a DNA/deficiência , Síndromes de Imunodeficiência/diagnóstico , Paniculite/diagnóstico , Fatores de Transcrição/deficiência , Antialérgicos/uso terapêutico , Cetirizina/uso terapêutico , Pré-Escolar , Proteínas de Ligação a DNA/genética , Fármacos Dermatológicos/administração & dosagem , Feminino , Humanos , Síndromes de Imunodeficiência/genética , Furoato de Mometasona/administração & dosagem , Mutação , Paniculite/tratamento farmacológico , Paniculite/genética , Pele/patologia , Fatores de Transcrição/genética
13.
Eur J Haematol ; 102(6): 447-456, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30801785

RESUMO

OBJECTIVE: Despite long-standing safe and effective use of immunoglobulin replacement therapy (IgRT) in primary immunodeficiency, clinical data on IgRT in patients with secondary immunodeficiency (SID) due to B-cell lymphoproliferative diseases are limited. Here, we examine the correlation between approved IgRT indications, treatment recommendations, and clinical practice in SID. METHODS: An international online survey of 230 physicians responsible for the diagnosis of SID and the prescription of IgRT in patients with hematological malignancies was conducted. RESULTS: Serum immunoglobulin was measured in 83% of patients with multiple myeloma, 76% with chronic lymphocytic leukemia, and 69% with non-Hodgkin lymphoma. Most physicians (85%) prescribed IgRT after ≥2 severe infections. In Italy, Germany, Spain, and the United States, immunoglobulin use was above average in patients with hypogammaglobulinemia, while in the UK considerably fewer patients received IgRT. The use of subcutaneous immunoglobulin was highest in France (34%) and lowest in Spain (19%). Immunologists measured specific antibody responses, performed test immunization, implemented IgRT, and used subcutaneous immunoglobulin more frequently than physicians overall. CONCLUSIONS: The management of SID in hematological malignancies varied regionally. Clinical practice did not reflect treatment guidelines, highlighting the need for robust clinical studies on IgRT in this population and harmonization between countries and disciplines.


Assuntos
Neoplasias Hematológicas/complicações , Neoplasias Hematológicas/epidemiologia , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/etiologia , Gerenciamento Clínico , Saúde Global , Humanos , Imunoglobulinas/sangue , Imunoglobulinas/imunologia , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/terapia , Infecção/etiologia , Controle de Infecções , Vigilância em Saúde Pública , Resultado do Tratamento
14.
Crit Rev Oncol Hematol ; 133: 149-162, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30661651

RESUMO

Neutropenia is a dangerous and potentially fatal condition that renders patients vulnerable to recurrent infections. Its severity is commensurate with the absolute count of neutrophil granulocytes in the circulation. In paediatric patients, neutropenia can have many different aetiologies. Primary causes make up but a small portion of the whole and are relatively unknown. In the past decades, a number of genes has been discovered that are responsible for congenital neutropenia. By perturbation of mitochondrial energy metabolism, vesicle trafficking or synthesis of functional proteins, these mutations cause a maturation arrest in myeloid precursor cells in the bone marrow. Apart from these isolated forms, congenital neutropenia is associated with a multiplicity of syndromic diseases that includes among others: oculocutaneous albinism, metabolic diseases and bone marrow failure syndromes. Congenital neutropenia is a primary immunodeficiency disease that is associated with recurrent bacterial infections, auto-inflammatory and auto-immune phenomena, haematological malignancy and neuro-psychiatric manifestations. The aim of this review is to give a comprehensive overview of the most recent literature concerning the clinical, aetiological and genetic features of congenital neutropenia and the syndromes in which it might be encountered.


Assuntos
Síndromes de Imunodeficiência , Neutropenia/congênito , Criança , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/genética , Neutropenia/complicações , Neutropenia/diagnóstico , Neutropenia/epidemiologia , Neutropenia/genética , Fenótipo
15.
BMJ Case Rep ; 12(1)2019 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-30610030

RESUMO

Selective immunoglobulin M deficiency (sIgMD) is an immunodeficiency with undefined pathogenesis and commonly presenting with recurrent infections. 1 The European Society for Immunodeficiencies Registry defines sIgMD as a serum IgM level repeatedly below 2 SD of normal with normal levels of serum IgA, IgG and IgG subclasses, normal vaccination responses, absence of T-cell defects and absence of causative external factors. Rarely it can also be associated with autoimmune diseases. 2-7 Here we describe a patient with primary sIgMD; who presented with multiple autoimmune diseases without a history of recurrent infections and we provide a short literature review on sIgMD and autoimmune diseases.


Assuntos
Doenças Autoimunes/diagnóstico , Imunoglobulina M/deficiência , Síndromes de Imunodeficiência/diagnóstico , Doença Mista do Tecido Conjuntivo/tratamento farmacológico , Doença Mista do Tecido Conjuntivo/imunologia , Adulto , Assistência ao Convalescente , Antirreumáticos/administração & dosagem , Antirreumáticos/uso terapêutico , Doenças Autoimunes/complicações , Doenças Autoimunes/imunologia , Humanos , Hidroxicloroquina/administração & dosagem , Hidroxicloroquina/uso terapêutico , Iloprosta/administração & dosagem , Iloprosta/uso terapêutico , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/imunologia , Infusões Intravenosas , Masculino , Doença Mista do Tecido Conjuntivo/sangue , Doença Mista do Tecido Conjuntivo/diagnóstico , Mialgia/diagnóstico , Mialgia/etiologia , Nifedipino/administração & dosagem , Nifedipino/uso terapêutico , Sinovite/diagnóstico , Sinovite/etiologia , Resultado do Tratamento , Vasodilatadores/administração & dosagem , Vasodilatadores/uso terapêutico
16.
Exp Hematol ; 71: 43-50, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30664903

RESUMO

Primary immunodeficiency diseases (PIDs) are a heterogeneous group of rare immune disorders with genetic causes. Effective treatments using hematopoietic stem cells or pharmaceutical agents have been around for decades. However, for many patients, these treatment options are ineffective, partly because the rarity of these PIDs complicates the diagnosis and therapy. Induced pluripotent stem cells (iPSCs) offer a potential solution to these problems. The proliferative capacity of iPSCs allows for the preparation of a large, stable supply of hematopoietic cells with the same genome as the patient, allowing for new human cell models that can trace cellular abnormalities during the pathogenesis and lead to new drug discovery. PID models using patient iPSCs have been instrumental in identifying deviations in the development or function of several types of immune cells, revealing new molecular targets for experimental therapies. These models are only in their early stages and for the most part have recapitulated results from existing models using animals or primary cells. However, iPSC-based models are being used to study complex diseases of other organs, including those with multigenic causes, suggesting that advances in differentiation processes will expand iPSC-based models to complex PIDs as well.


Assuntos
Síndromes de Imunodeficiência/etiologia , Síndromes de Imunodeficiência/terapia , Células-Tronco Pluripotentes Induzidas/citologia , Células-Tronco Pluripotentes Induzidas/metabolismo , Transplante de Células-Tronco , Animais , Biomarcadores , Diferenciação Celular , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/metabolismo , Macrófagos/imunologia , Macrófagos/metabolismo , Macrófagos/patologia , Modelos Biológicos , Monócitos/imunologia , Monócitos/metabolismo , Monócitos/patologia , Transplante de Células-Tronco/métodos
18.
J Clin Immunol ; 39(1): 90-98, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30610441

RESUMO

PURPOSE: Primary immunodeficiency (PID) represents disorders with a spectrum of clinical presentations. The medical community seeks clinical features to prompt evaluation for immunodeficiency given improved prognosis with early identification. We hoped to identify clinical characteristics that would improve the diagnostic accuracy of the widely disseminated Jeffrey Modell Foundation warning signs for immunodeficiency. METHODS: We performed a retrospective chart review in a two-center North American cohort of patients with PID. Charts of 137 pediatric and 400 adult patients with PID were evaluated for the presence of these warning signs and compared to controls with normal preliminary biochemical immune evaluation. RESULTS: Fewer than 45% of adults with PID presented with ≥ 2 warning signs, while diagnostic utility was improved in the pediatric population where the warning signs were found to be 64% sensitive. The warning signs found in a significantly increased proportion compared to controls differed for pediatric PID patients (recurrent pneumonia (OR 2.9, p < 0.001), failure to thrive (OR 2.1, p < 0.001), need for IV antibiotics (OR 2.1, p < 0.001), serious bacterial infection (OR 4.8, p < 0.001), recurrent otitis media (OR 1.5, p = 0.027)), versus adult PID patients (recurrent otitis media (OR 2.9, p < 0.001), recurrent sinusitis (OR 2.1, p < 0.001), diarrhea with weight loss (OR 2.2, p < 0.001), recurrent viral infection (OR 3.3 p < 0.001)). In evaluation for additional criteria to promote identification of immunodeficiency, linear regression models showed slightly improved diagnostic accuracy of the warning signs with the addition of autoimmunity in our pediatric PID cohort (8.7% v 2.8%, p < 0.001, ROC 0.58). Adult PID patients demonstrated atopy more frequently than controls (48.0% vs 40.3%, p = 0.011), while atopy was found to have a negative association with the presence of PID in the pediatric age group (OR 0.3, p < 0.01). No improvement in diagnostic accuracy of the warning signs was found with the addition of allergic disease, autoimmunity, or malignant and benign proliferative disease in the adult cohort. CONCLUSIONS: We demonstrate poor diagnostic performance of warning signs for immunodeficiency in patients with PID in a retrospective chart review. Divergent warning signs of statistically significant diagnostic utility were found in pediatric versus adult patients. We suggest education of physicians on differing presentations of possible immunodeficiency between age groups, and expansion of the warning signs to include non-infectious comorbidities such as autoimmunity in pediatric patients.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/imunologia , Adolescente , Antibacterianos/imunologia , Autoimunidade/imunologia , Infecções Bacterianas/imunologia , Criança , Pré-Escolar , Estudos de Coortes , Diarreia/imunologia , Insuficiência de Crescimento/imunologia , Feminino , Humanos , Lactente , Masculino , Otite Média/imunologia , Pneumonia/imunologia , Encaminhamento e Consulta , Estudos Retrospectivos , Viroses/imunologia
19.
Orv Hetil ; 159(49): 2087-2094, 2018 Dec.
Artigo em Húngaro | MEDLINE | ID: mdl-30525880

RESUMO

In primary immunodeficiencies, the malfunction of the immune system is caused by genetic alterations. The physician proposes the most probable diagnosis based on symptoms, clinical signs, the family history and the results of the pathogen identification. To confirm this clinical suspicion, it is essential that the immunological malfunction be tested using in vitro diagnostic procedures. This paper summarizes the screening, confirmatory and disease-specific laboratory methods capable of testing the antibody response, the T cells, the phagocytic function, the complement system and other components of the innate immune system. The genetic tests necessary to make the final diagnosis are beyond the scope of this publication. Orv Hetil. 2018; 159(49): 2087-2094.


Assuntos
Técnicas de Laboratório Clínico/métodos , Síndromes de Imunodeficiência/diagnóstico , Linfócitos T/imunologia , Separação Celular , Citometria de Fluxo , Humanos
20.
Orv Hetil ; 159(49): 2095-2112, 2018 Dec.
Artigo em Húngaro | MEDLINE | ID: mdl-30525886

RESUMO

Next generation sequencing methods represent the latest era of molecular genetic diagnostics. After a general introduction on primary immunodeficiencies, the author summarizes the importance of molecular genetic studies, especially next generation sequencing in the diagnosis of primary immunodeficiencies. Another purpose of the manuscript is to give a brief summary on the methodological basis of next generation sequencing. The author analyzes the advantages and disadvantages of primary immunodeficiency gene-panel sequencing and whole-exome and whole-genome sequencing. Primary immunodeficiency genes and diseases recognized by next generation sequencing is also summarized. Finally, the author emphasizes the indispensability of gene level diagnostics in primary immunodeficiencies and presents the results achieved in this field in Hungary. Orv Hetil. 2018; 159(49): 2095-2112.


Assuntos
Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Síndromes de Imunodeficiência/genética , Humanos , Hungria , Síndromes de Imunodeficiência/diagnóstico
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