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1.
Medicina (B.Aires) ; 81(3): 478-481, jun. 2021. graf
Article in Spanish | LILACS | ID: biblio-1346490

ABSTRACT

Resumen La enfermedad COVID-19, causada por el virus SARS-CoV-2, surgió a fines de 2019 en Wuhan, China. La evolución clínica es variable, así como la tasa de mortalidad, que es mayor en pacientes mayores de 65 años y en quienes padecen enfermedades subyacentes. Las inmunodeficiencias son potenciales factores de riesgo para formas graves de COVID-19. Los pacientes con inmunodeficiencias tienen además mayor frecuencia de complicaciones no infecciosas, que podrían representar un riesgo adicional. Hasta el momento existen escasas publicaciones sobre asociación COVID-19 e inmunodeficiencias humorales. Considerando la importancia del estudio de esta nueva enfermedad viral y de su potencial repercusión en la salud de los pacien tes con inmunodeficiencias presentamos seis casos de COVID-19 en adultos con déficit de anticuerpos (tres mujeres y tres varones, edad promedio 48.5 años, rango 20-67). Cuatro tenían inmunodeficiencias primarias: inmunodeficiencia común variable (n: 3) y agammaglobulinemia ligada al cromosoma X (n: 1). Los otro dos tenían hipogammaglobulinemia secundaria, en un caso asociada a timoma (síndrome de Good), y en el otro a tratamiento con rituximab. La evolución fue favorable en todos menos en el paciente con síndrome de Good, quien presentaba un marcado deterioro del estado general antes de contraer COVID-19.


Abstract COVID-19, caused by SARS-CoV-2, emerged in late 2019 in Wuhan, China. Its clinical course is variable, as well as the mortality rate, which is higher among people over 65 years of age and persons with underlying conditions. Immunodeficiencies are po tential risk factors for severe forms of COVID-19. Furthermore, patients with immunodeficiencies often undergo non-infectious complications, which could bear additional risk. So far, few reports of patients with COVID-19 and humoral immunodeficiencies have been published. Considering the importance of the study of this new viral disease and its potential health impact on patients with immunodeficiency disorders, we present six cases of COVID-19 in patients with impaired humoral immunity. Three were women and three were men. The average age was 48.5 years (range 20-67). Four had been diagnosed with primary antibody deficiency: three had common variable immunodeficiency and one had X-linked agammaglobulinemia. The other two patients had secondary hypogammaglobulinemia, one was associated with thymoma (Good's syndrome), and the other was associated with rituximab treatment. The evolution was favorable in all except the patient with Good's syndrome, who pre sented a marked decline in clinical status before contracting COVID-19.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Young Adult , Thymoma , Thymus Neoplasms , Agammaglobulinemia , Primary Immunodeficiency Diseases , COVID-19 , SARS-CoV-2
2.
Article in English | WPRIM | ID: wpr-880663

ABSTRACT

A patient with thymoma associated immunodeficiency syndrome (Good's syndrome) and bronchiectasis was retrospectively analyzed. Good's syndrome is a rare condition of immunodeficiency that is characterized by thymoma and hypogammaglobulinemia. It is important to bear in mind that Good's syndrome should be included in the differential diagnosis When patients repeatedly visited for bronchiectasis or infection, we should alert to their immune state and history of thymoma. Early screening of immunological status and aggressive correction of immune deficiency are beneficial to improving the prognosis to patients with Good's syndrome.


Subject(s)
Agammaglobulinemia/complications , Bronchiectasis/complications , Humans , Retrospective Studies , Thymoma/complications , Thymus Neoplasms/complications
3.
Article in Chinese | WPRIM | ID: wpr-922002

ABSTRACT

OBJECTIVE@#To explore the genetic pathogenesis of X-linked agammaglobulinemia in two patients for clinical diagnosis and family counseling.@*METHODS@#Data was collected from the patients' family including clinical information, blood immunoglobulin level, as well as classification and subgrouping of B lymphocytes. Gene mutations were screened by whole exome sequencing (WES) through next-generation sequencing (NGS), the result was verified with Sanger sequencing.@*RESULTS@#A BTK c.1627T>C (p.Ser543Pro) variant was found in the pedigree. The phenotype and variant have co-segregated in the pedigree. The variant was not found in population database. The variant has affected in the kinase domain which contained no benign variants and is harmful as predicted through bioinformatic analysis.@*CONCLUSION@#BTK c.1627T>C (p.Ser543Pro) is a pathogenic variant contributing to X-linked agammaglobulinemia in this pedigree. Above finding has provided reproduction guidance for this family.


Subject(s)
Agammaglobulinaemia Tyrosine Kinase/genetics , Agammaglobulinemia/genetics , DNA Mutational Analysis , Genetic Diseases, X-Linked , Humans , Mutation , Pedigree
4.
Gac. méd. Méx ; 156(3): 195-201, may.-jun. 2020. tab, graf
Article in English, Spanish | LILACS | ID: biblio-1249894

ABSTRACT

Resumen Antecedentes: Las deficiencias de anticuerpos abarcan un amplio espectro de patologías y constituyen aproximadamente 50 % de las inmunodeficiencias primarias; con la citometría es posible evaluar el estado inmunológico de forma rápida, efectiva y a bajo costo. Objetivo: Evaluar mediante citometría de flujo, las células de pacientes con tres tipos de inmunodeficiencias primarias humorales. Método: Mediante citometría de flujo se analizaron muestras de sangre de pacientes y sujetos sanos con distintos anticuerpos monoclonales. Resultados: Mediante diversas tinciones se demostró disminución severa de linfocitos B en pacientes con agammaglobulinemia ligada al cromosoma X, la falta de expresión de CD154 en pacientes con síndrome de hiperinmunoglobulina M y heterogeneidad de subpoblaciones de linfocitos B en pacientes con inmunodeficiencia común variable. Conclusión: Con la citometría de flujo es posible realizar el diagnóstico temprano de inmunodeficiencias primarias con un nivel de confianza elevado y, en muchos casos, identificar los genes implicados.


Abstract Background: Antibody deficiencies encompass a wide spectrum of pathologies and constitute approximately 50 % of primary immunodeficiencies; with cytometry, it is possible to evaluate the immune status rapidly, effectively and at low cost. Objective: To assess, by means of flow cytometry, the cells of patients with three types of primary humoral immunodeficiencies. Method: Using flow cytometry, blood samples from patients and healthy subjects were analyzed with different monoclonal antibodies. Results: Using various stains, a severe decrease in B lymphocytes was shown in patients with X-linked agammaglobulinemia, as well as a lack of CD154 expression in patients with hyper-immunoglobulin M syndrome, and heterogeneity of B lymphocyte subpopulations in patients with common variable immunodeficiency. Conclusion: Flow cytometry enables early diagnosis of primary immunodeficiencies with a high level of confidence and, in many cases, identification of the genes involved.


Subject(s)
Humans , Male , Female , Child , Adolescent , Common Variable Immunodeficiency/immunology , Agammaglobulinemia/immunology , Genetic Diseases, X-Linked/immunology , Flow Cytometry , Immunologic Deficiency Syndromes/immunology , B-Lymphocytes/immunology , Cross-Sectional Studies , Prospective Studies , Antibodies, Monoclonal/immunology
5.
Article in English | WPRIM | ID: wpr-785340

ABSTRACT

PURPOSE: While there is an urgent need for diagnosis and therapeutic intervention in patients with primary immunodeficiency diseases (PIDs), current genetic tests have drawbacks. We retrospectively reviewed the usefulness of flow cytometry (FCM) as a quick tool for immunophenotyping and functional assays in patients suspected to have PIDs at a single tertiary care institute.METHODS: Between January 2001 and June 2018, patients suspected of having PIDs were subjected to FCM tests, including lymphocyte subset analysis, detection of surface- or intracellular-target proteins, and functional analysis of immune cells, at Samsung Medical Center, Seoul, Korea. The genetic diagnosis was performed using Sanger or diagnostic exome sequencing.RESULTS: Of 60 patients diagnosed with definite or probable PID according to the European Society of Immune Deficiencies criteria, 24 patients were provided with useful information about immunological dysfunction after initial FCM testing. In 10 patients, the PID diagnosis was based on abnormal findings in FCM testing without genetic tests. The FCM findings provided strong evidence for the diagnosis of severe combined immunodeficiency (n = 6), X-linked chronic granulomatous diseases (CGD) (n = 6), leukocyte adhesion deficiency type 1 (n = 3), X-linked agammaglobulinemia (n = 11), autoimmune lymphoproliferative syndrome-FASLG (n = 1), and familial hemophagocytic lymphohistiocytosis type 2 (n = 1), and probable evidence for autosomal recessive-CGD (n = 2), autosomal dominant-hyper-immunoglobulin E (IgE)-syndrome (n = 1), and STAT1 gain-of-function mutation (n = 1). In PIDs derived from PIK3CD (n = 2), LRBA (n = 2), and CTLA4 mutations (n = 3), the FCM test provided useful evidence of immune abnormalities and a tool for treatment monitoring.CONCLUSIONS: The initial application of FCM, particularly with known protein targets on immune cells, would facilitate the timely diagnosis of PIDs and thus would support clinical decisions and improve the clinical outcome.


Subject(s)
Agammaglobulinemia , Diagnosis , Exome , Flow Cytometry , Genetic Testing , Granulomatous Disease, Chronic , Humans , Immunophenotyping , Korea , Leukocytes , Lymphocyte Subsets , Lymphohistiocytosis, Hemophagocytic , Phenotype , Retrospective Studies , Seoul , Severe Combined Immunodeficiency , Tertiary Healthcare
6.
Article in Chinese | WPRIM | ID: wpr-828660

ABSTRACT

Allogeneic stem cell transplantation (allo-SCT) is currently the only curative option for patients with X-linked agammaglobulinemia (XLA). In this study, patient 1 aged 4 years who underwent allogeneic peripheral blood stem cell transplantation (allo-PBSCT) from HLA-mismatched unrelated donor; patient 2 aged 24 years (childhood onset) with primary cutaneous acral CD8 T cell lymphoma who underwent allo-PBSCT from haploidentical relative donor. Both were treated by reduced toxicity myeloablative conditioning with post-transplantation cyclophosphamide (PTCy), anti-thymocyte globulin (ATG), methotrexate (MTX) and cyclosporine (CsA) for graft-versus-host-disease (GVHD) prophylaxis. In patient 1, neutrophil and platelet engraftment were observed on day 11 post-transplantation; the donor chimerism dropped on day 90 post-transplantation, and recovered on day 150 with donor lymphocyte infusion (DLI). In patient 2, neutrophil and platelet engraftment were observed on days 20 and 87 post-transplantation respectively, with complete donor chimerism on day 30 post-transplantation. The serum levels of IgG, IgM and IgA and the percentage of CD19 B cells in peripheral blood of patients 1 and 2 returned to normal within 2 months and more than 1 year after transplantation respectively. There was no evidence of acute GVHD for the two patients. Patient 1 developed a limited type of skin chronic GVHD after DLI, which disappeared after anti-GVHD treatment. This is the first report of successful treatment for two XLA patients using PTCy with allo-PBSCT from HLA-mismatched unrelated donor or haploidentical donor, combining with improved conditioning, which expands the pool of eligible donors for patients with XLA.


Subject(s)
Agammaglobulinemia , Therapeutics , Genetic Diseases, X-Linked , Therapeutics , Graft vs Host Disease , HLA Antigens , Hematopoietic Stem Cell Transplantation , Humans , Peripheral Blood Stem Cell Transplantation , Treatment Outcome , Unrelated Donors , Young Adult
7.
Cambios rev. méd ; 18(1): 90-95, 28/06/2019. ilus; grafs
Article in Spanish | LILACS | ID: biblio-1015167

ABSTRACT

INTRODUCCIÓN. La Agammaglobulinemia ligada al cromosoma X es un tipo de inmunodeficiencia primaria originada por una mutación en el gen que codifica a la proteína responsable del proceso madurativo de los linfocitos B, provocando la disminución o ausencia de inmunoglobulinas en sangre periférica y la predisposición a procesos infecciosos a repetición, sobre todo a nivel del tracto respiratorio y digestivo. La sospecha clínica orienta la solicitud de pruebas complementarias de forma secuencial. El tratamiento consiste en la administración sustitutiva de por vida de inmunoglobulina humana. CASO CLÍNICO. Se presentó el caso de un niño de 8 años de edad con infecciones respiratorias altas y bajas a repetición, con estudios radiográficos de tórax que revelaron una atelectasia persistente, en quien la sospecha clínica dio paso a los evaluativos inmunológico y genético. RESULTADOS. El diagnóstico fue realizado a los 6 años de edad con recuento sérico de inmunoglobulinas por debajo del rango para la edad, citometría de flujo con CD19+ del 0,08% y genética con mutación del gen BTK. Se instauró tratamiento con Inmunoglobulina humana a 400 mg/Kg cada 4 semanas, se monitorizó los niveles de IgG antes de cada infusión. DISCUSIÓN. La Agammaglobulinemia ligada al cromosoma X constituye una enfermedad poco prevalente e infradiagnosticada en la que la sospecha clínica representa la base del abordaje, lo que permitió el tratamiento sustitutivo apropiado. CONCLUSIÓN. El diagnóstico y tratamiento oportunos permitieron evitar el desarrollo de infecciones respiratorias graves, mejorar la calidad de vida del niño y el asesoramiento genético familiar.


INTRODUCTION. X-linked Agammaglobulinemia is a type of primary immunodeficiency caused by a mutation in the gene that encodes the protein responsible for the maturation process of B lymphocytes, causing the decrease or absence of immunoglobulins in peripheral blood and the predisposition to repeated infectious processes, especially at the level of the respiratory and digestive tracts. Clinical suspicion guides the request for complementary tests sequentially. The treatment consists of lifelong substitute administration of human immunoglobulin. CASE REPORT. The case of an 8-year-old boy with repeated high and low respiratory infections was presented, with chest radiographic studies that revealed persistent atelectasis, in whom clinical suspicion gave way to immunological and genetic evaluations. RESULTS. The diagnosis was made at 6 years of age with serum immunoglobulin counts below the age range, flow cytometry with CD19 + of 0,08% and genetics with BTK gene mutation. Treatment with human Immunoglobulin at 400 mg / Kg every 4 weeks was initiated, IgG levels were monitored before each infusion. DISCUSSION. X- linked Agammaglobulinemia is a rare and underdiagnosed disease in which clinical suspicion represents the basis of the approach, which allowed for appropriate replacement. CONCLUSION. Timely diagnosis and treatment allowed to avoid the development of serious respiratory infections, improve de child ́s quality of life and family genetic couseling.


Subject(s)
Humans , Male , Child , Bacterial Infections , Child Health , Mutation , Respiratory Tract Infections , X Chromosome , B-Lymphocytes , Agammaglobulinemia
8.
Article in English | WPRIM | ID: wpr-766190

ABSTRACT

Patients with severe active lupus nephritis (LN) require immunosuppressive therapy to induce remission. However, the development of profound hypogammaglobulinemia causing cytomegalovirus (CMV) disease is a rare occurrence during standard immunotherapy. A 27-year-old woman who presented with active LN along with moderate renal impairment was treated with of mycophenolate mofetil (MMF) and methylprednisolone. MMF was soon switched with low-dose intravenous (IV) cyclophosphamide (CYC) owing to the development of posterior reversible encephalopathy syndrome and deterioration of renal function requiring hemodialysis. After two cycles of IV CYC, she developed CMV colitis and pneumonia. Although her serum immunoglobulin (Ig) concentrations before receiving immunosuppressive treatment were normal, they were profoundly reduced at CMV disease onset and continued to maintain low level for 30 months. Severe hypogammaglobulinemia can occur during standard therapy for LN, especially in patients with impaired renal function, pointing out the importance of close monitoring of Ig levels and CMV infection.


Subject(s)
Adult , Agammaglobulinemia , Colitis , Cyclophosphamide , Cytomegalovirus Infections , Cytomegalovirus , Female , Humans , Immunoglobulins , Immunotherapy , Lupus Nephritis , Methylprednisolone , Pneumonia , Posterior Leukoencephalopathy Syndrome , Renal Dialysis
9.
Braz. j. med. biol. res ; 52(10): e8926, 2019. graf
Article in English | LILACS | ID: biblio-1039253

ABSTRACT

Humoral immunological defects are frequent and important causes of hypogammaglobulinemia, leading to recurrent infections, autoimmunity, allergies, and neoplasias. Usually, its onset occurs in childhood or during the second and third decades of life; however, the diagnosis is made, on average, 6 to 7 years afterwards. As a consequence, antibody defects can lead to sequelae. Here we describe the clinical-laboratory characteristics, treatment, and prognoses of patients with hypogammaglobulinemia. An observational, cross-sectional, and retrospective study of patients attending the recently established outpatient group of Clinical Immunology between 2013 and 2018 was carried out. Patients with IgG levels below 2 standard deviations from the mean values for the age and/or impaired antibody response were included. Eight patients (3 F and 5 M; median age=41 years (16-65), average symptom onset at 25 years (1-59), and time to diagnosis of 10 years were included. The main infections were: sinusitis in 7/8, pneumonia in 6/8, otitis in 2/8, tonsillitis and diarrhea in 2/8, and diarrhea in 2/8 patients. Hypothyroidism was identified in 4/8 (50%) patients. Rhinitis was found in 7/8 (87.5%) and asthma in 3/8 (37.5%) patients. The tomographic findings were consolidations, atelectasis, emphysema, ground glass opacity, budding tree, bronchial thickening, and bronchiectasis. Immunoglobulin reposition was used between 466 and 600 mg/kg monthly (514.3 mg·kg-1·dose-1). Prophylactic antibiotic therapy was included in 7/8 (87.5%) patients. Airway manifestations prevailed in patients with hypogammaglobulinemia. There is a need for educational work to reduce the time of diagnosis and initiation of treatment, avoiding sequelae.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Immunoglobulins, Intravenous/administration & dosage , Agammaglobulinemia/diagnosis , Time Factors , Cross-Sectional Studies , Retrospective Studies , Agammaglobulinemia/drug therapy
10.
Arch. argent. pediatr ; 116(2): 322-324, abr. 2018.
Article in English, Spanish | LILACS, BINACIS | ID: biblio-887479

ABSTRACT

La enfermedad de Kawasaki (EK) es una vasculitis autoinmunitaria sistémica que afecta a los vasos pequeños y medianos. La complicación principal de la enfermedad de Kawasaki es el aneurisma de las arterias coronarias, cuyo riesgo es más alto si se retrasa el diagnóstico y el tratamiento. Si bien hasta la fecha se han presentado casos de EK completa e incompleta en diferentes tipos de enfermedades por inmunodeficiencia, no se ha informado acerca de la evolución clínica de la EK en pacientes con hipogammaglobulinemia (HG). En este artículo, se presenta un caso de diagnóstico de EK incompleta en un niño con HG transitoria de la infancia. También se resumen casos previamente informados de EK e inmunodeficiencia. En el caso de una inmunodeficiencia, las infecciones recurrentes pueden ocultar la EK, lo que retrasa el diagnóstico y aumenta el riesgo de complicaciones. En pacientes inmunodeficientes, debe tenerse en cuenta la posibilidad de EK cuando la fiebre es prolongada.


Kawasaki Disease (KD) is a systemic autoimmune vasculitis that affects small and medium sized vessels. Main complication of Kawasaki Disease is coronary artery aneurism, which has higher risk in case of delayed diagnosis and treatment. Although, complete and incomplete KD cases in different types of immune deficiency diseases have been presented up to date, clinical course of KD in patients with hypogammaglobulinemia (HG) has not been reported. Herein, a case diagnosed as incomplete KD in a child with transient HG of infancy has been reported. Previously reported cases with KD and immunedeficiency have also been summarized. Recurrent infections in case of immunedeficiency may mask KD disease resulting in delay in diagnosis and increased risk of complication. KD should be kept in mind in immunedeficient patients in case of prolonged fever.


Subject(s)
Humans , Male , Child, Preschool , Agammaglobulinemia/complications , Mucocutaneous Lymph Node Syndrome/complications , Mucocutaneous Lymph Node Syndrome/diagnosis , Diagnosis, Differential , Delayed Diagnosis
11.
Article in Chinese | WPRIM | ID: wpr-689640

ABSTRACT

This research investigated the clinical features of immunodeficiency disease and the features of the mutation of its pathogenic genes. All 7 patients were boys aged 5 months to 4 years and 6 months and had a history of recurrent respiratory infection and pneumonia, low levels of IgM and IgG, and abnormal absolute values or percentages of lymphocyte subsets. High-throughput sequencing showed c.1684C>T mutations in the BTK gene in patient 1 and IVS8+2T>C splice site mutations in the BTK gene in patient 2. Both of these mutations came from their mothers. Patients 3, 4, and 5 had mutations in the IL2RG gene, i.e., c.298C>T, IVS3-2A>G, and c.164T>A, among which c.164T>A mutations had not been reported. Patient 6 had c.204C>G mutations in the RAG2 gene. Patient 7 had complex heterozygous mutations of c.913C>T and c.824G>A in the RAG2 gene, which came from his father and mother, respectively. Patients with immunodeficiency disease have abnormal immunological indices, and high-throughput sequencing helps to make a definite diagnosis.


Subject(s)
Agammaglobulinaemia Tyrosine Kinase , Agammaglobulinemia , Genetics , Child, Preschool , Computational Biology , DNA-Binding Proteins , Genetics , Genetic Diseases, X-Linked , Genetics , High-Throughput Nucleotide Sequencing , Humans , Immunologic Deficiency Syndromes , Genetics , Therapeutics , Infant , Interleukin Receptor Common gamma Subunit , Genetics , Male , Mutation , Nuclear Proteins , Genetics , Protein-Tyrosine Kinases , Genetics
12.
Rev. chil. pediatr ; 88(1): 136-141, 2017. tab
Article in Spanish | LILACS | ID: biblio-844590

ABSTRACT

Las inmunodeficiencias primarias (IDP) son enfermedades congénitas causadas por alteraciones cuantitativas o funcionales de la respuesta inmunitaria. Se caracterizan por predisposición a infecciones, autoinmunidad, alergia y enfermedades linfoproliferativas. Objetivo: Reportar 3 casos de lactantes menores con IDP que se manifestaron como infecciones graves de curso inhabitual. Casos clínicos: Se presentan 3 pacientes diagnosticados como IDP en su estadía en la Unidad de Paciente Crítico Pediátrico. El primero corresponde a un lactante de 4 meses con neumonía multifocal extensa a quien se diagnosticó un síndrome de inmunodeficiencia combinada severa ligada a X; el segundo es un lactante de 8 meses que se manifestó como una adenitis mesentérica por Candida lusitaniae y que correspondió a enfermedad granulomatosa crónica, y el tercero se trata de un lactante de 6 meses que se presentó con un ectima por Pseudomona y se diagnosticó una agammaglobulinemia ligada a X. Conclusión: El diagnóstico de IDP debe sospecharse en presencia de una infección de evolución arrastrada que no responde a tratamiento habitual. Se discuten los casos y se presenta una puesta al día de las patologías diagnosticadas.


Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. Objective: To present and discuss 3 infants diagnosed with PID. Clinical cases: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease. The second patient was an 8-month-old infant with Candida lusitaniae mesenteric adenitis, and diagnosed with a Chronic Granulomatous Disease. The last patient, a 6-month-old infant presented with ecthyma gangrenosum and X-linked agammaglobulinaemia. Conclusion: PID should be suspected when an infectious disease does not responde to the appropriate therapy within the expected period. An update of each disease is presented.


Subject(s)
Humans , Male , Infant , Agammaglobulinemia/diagnosis , Genetic Diseases, X-Linked/diagnosis , Granulomatous Disease, Chronic/diagnosis , Immunologic Deficiency Syndromes/diagnosis , Severity of Illness Index , Intensive Care Units, Pediatric , Agammaglobulinemia/physiopathology , Agammaglobulinemia/immunology , Granulomatous Disease, Chronic/immunology , Immunologic Deficiency Syndromes/physiopathology
13.
Rev. Soc. Bras. Clín. Méd ; 15(1): 58-60, 2017.
Article in Portuguese | LILACS | ID: biblio-833178

ABSTRACT

A imunodeficiência de variável comum é uma imunodeficiência primária de apresentação heterogênea, consistindo em um défice em imunoglobulinas. É caracterizada por infeções de repetição e predisposição para doenças autoimunes, granulomatosas e neoplásicas. Os autores apresentam o caso clínico de um doente com imunodeficiência comum variável manifestada por infeções cutâneas de repetição e linfadenite recorrente. Este caso tem como objetivo alertar para os aspetos clínicos desta imunodeficiência, a fim de permitir seu diagnóstico precoce, evitando-se prognósticos desfavoráveis.(AU)


Common variable immunodeficiency is a primary immunodeficiency with a heterogeneous presentation, characterized by decreased immunoglobulin levels. It is characterized by recurrent infections, predisposition to autoimmune, granulomatous and neoplastic diseases. The authors report a case of a patient with common variable immunodeficiency and history of skin infections and recurrent lymphadenitis. This case report aims to draw the attention to the clinical aspects of this immunodeficiency, in order to promote an early diagnosis, avoiding poor outcomes.(AU)


Subject(s)
Humans , Male , Adult , Common Variable Immunodeficiency/pathology , Agammaglobulinemia/etiology , Lymphadenitis/etiology , Early Diagnosis
14.
Santiago; Chile. Ministerio de Salud; 2017. tab.
Monography in Spanish | LILACS, BRISA | ID: biblio-882744

ABSTRACT

INTRODUCCIÓN: Las inmunodeficiencias primarias conforman un grupo de distintas patologías, que comprometen la inmunidad humoral o celular, resultando en un aumento de la susceptibilidad a infecciones. En general, no existe una terapia curativa, no obstante se administra tratamiento antibiótico profiláctico, y el uso de inmunoglobulinas. Dentro de los 7 grandes grupos de inmunodeficiencias, son de particular importancia los pacientes diagnosticados con inmunodeficiencia común variable (ICV) y con agammaglobulinemia autosómica recesiva o ligada al cromosoma X (ALX), por ser las patologías más prevalentes dentro de este grupo. TECNOLOGÍAS SANITARIAS ANALISADAS: Inmunoglobulina Humana subcutánea. EFICACIA DE LOS TRATAMIENTOS: No se encontró evidencia sobre la eficacia de la Inmunoglobulina humana (IgG) en pacientes con ICV o ALX, en comparación a placebo u otro tratamiento. Sin embargo, se utilizaron 3 revisiones sistemáticas, las cuales incluyeron evidencia de 6 estudios de cohorte, comparando el uso de IgG subcutánea (IGSC) contra su uso intravenoso (IGIV) en niños y adultos con ICV y ALX. Los resultados de estos estudios muestran que es incierto si la IGSC produzca un cambio en la IgG en suero inferior y en la tasa de infecciones severas, en comparación a la IGIV, en niños y adultos con ICV y ALX. Esto debido a que la certeza en la evidencia es muy baja. Además, no se encontró evidencia que comparara IGIV con IGSC en el uso de antibióticos y la hospitalización, en pacientes con ICV y ALX, mientras que tampoco se encontró evidencia en la tasa de infecciones severas en pacientes con ICV. No se encontraron Ensayos Controlados Aleatorizados (ECAs) que evaluaran la eficacia de la IgG (ni su forma de administración) en población con ICV o ALX. ANÁLISIS ECONÓMICO: No se evaluó esta dimensión, en conformidad con el Título III De las Evaluaciones Favorables de la Norma Técnica N° 0192 del Ministerio de Salud, sobre el proceso de evaluación científica de la Evidencia establecido en el artículo 7° de la ley N°20.850.. CONCLUSIÓN: Para dar cumplimiento al artículo 28° del Reglamento que establece el proceso destinado a determinar los diagnósticos y tratamientos de alto costo con Sistema de Protección Financiera, según lo establecido en los artículos 7°y 8° de la ley N°20.850, aprobado por el decreto N°13 del Ministerio de Salud, se concluye que el presente informe de evaluación se considera no favorable, dado que la evidencia presentada es de certeza muy baja, de acuerdo a lo establecido en el Título III. de las Evaluaciones Favorables de la Norma Técnica N° 0192 de este mismo Ministerio.


Subject(s)
Humans , Agammaglobulinemia/drug therapy , Immunoglobulins, Intravenous/therapeutic use , Immunologic Deficiency Syndromes/drug therapy , Technology Assessment, Biomedical
15.
Article in Korean | WPRIM | ID: wpr-129038

ABSTRACT

PURPOSE: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the Bruton's tyrosine kinase (Btk) gene. The aim of this study was to investigate the clinical manifestations, molecular features, and treatment status of XLA in Korean patients at Seoul National University Children's Hospital. METHODS: Fourteen Korean boys with XLA showing serum agammaglobulinemia, non-detectable to less than 2% of peripheral B-cells, and mutation of the Btk gene were enrolled. We observed the clinical features, laboratory findings, status of treatment, and complications in these XLA patients. RESULTS: All XLA patients had a history of recurrent bacterial infections before diagnosis, and 20% of them had a neutropenia. Of the XLA patients 35.7% had a family history of XLA and 75% of their mothers were carriers. Btk gene analysis showed variable gene mutations in Xq22 including 9 amino acid substitutions, 3 frameshifts, 1 premature stop codon, and 1 splice defect. After intravenous immunoglobulin replacement therapy, infection episodes decreased, but complications such as bronchiectasis and chronic sinusitis remained. CONCLUSIONS: In patients less than 4 years of age with recurrent infection, analysis of serum gamma globulin levels and the Btk gene are recommended for the early diagnosis of XLA and for the appropriate prevention of recurrent infection.


Subject(s)
Agammaglobulinemia , Amino Acid Substitution , B-Lymphocytes , Bacterial Infections , Bronchiectasis , Codon, Nonsense , Diagnosis , Early Diagnosis , gamma-Globulins , Humans , Immunoglobulins , Immunoglobulins, Intravenous , Mothers , Neutropenia , Protein-Tyrosine Kinases , Seoul , Sinusitis
16.
Article in Korean | WPRIM | ID: wpr-129023

ABSTRACT

PURPOSE: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the Bruton's tyrosine kinase (Btk) gene. The aim of this study was to investigate the clinical manifestations, molecular features, and treatment status of XLA in Korean patients at Seoul National University Children's Hospital. METHODS: Fourteen Korean boys with XLA showing serum agammaglobulinemia, non-detectable to less than 2% of peripheral B-cells, and mutation of the Btk gene were enrolled. We observed the clinical features, laboratory findings, status of treatment, and complications in these XLA patients. RESULTS: All XLA patients had a history of recurrent bacterial infections before diagnosis, and 20% of them had a neutropenia. Of the XLA patients 35.7% had a family history of XLA and 75% of their mothers were carriers. Btk gene analysis showed variable gene mutations in Xq22 including 9 amino acid substitutions, 3 frameshifts, 1 premature stop codon, and 1 splice defect. After intravenous immunoglobulin replacement therapy, infection episodes decreased, but complications such as bronchiectasis and chronic sinusitis remained. CONCLUSIONS: In patients less than 4 years of age with recurrent infection, analysis of serum gamma globulin levels and the Btk gene are recommended for the early diagnosis of XLA and for the appropriate prevention of recurrent infection.


Subject(s)
Agammaglobulinemia , Amino Acid Substitution , B-Lymphocytes , Bacterial Infections , Bronchiectasis , Codon, Nonsense , Diagnosis , Early Diagnosis , gamma-Globulins , Humans , Immunoglobulins , Immunoglobulins, Intravenous , Mothers , Neutropenia , Protein-Tyrosine Kinases , Seoul , Sinusitis
17.
Annals of Dermatology ; : 476-478, 2017.
Article in English | WPRIM | ID: wpr-86511

ABSTRACT

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations of B-cell tyrosine kinase (BTK) gene. It is characterized by decreased serum immunoglobulins levels and circulating mature B cells. This defect in humoral immunity leads to increased susceptibility to infection. Pyoderma gangrenosum (PG) is an uncommon, ulcerating, neutrophilic dermatosis. Here we report PG in an 8-year-old patient with XLA. The patient received intravenous immunoglobulin treatment in conjunction with prednisone and topical application of 0.03% tacrolimus ointment and the ulcer was almost completely healed in the 2 weeks of follow-up. The coexistence has been rarely reported. XLA may be a possible cofactor in the pathogenesis of PG.


Subject(s)
Agammaglobulinemia , B-Lymphocytes , Child , Follow-Up Studies , Germ-Line Mutation , Humans , Immunity, Humoral , Immunoglobulins , Neutrophils , Prednisone , Protein-Tyrosine Kinases , Pyoderma Gangrenosum , Pyoderma , Skin Diseases , Tacrolimus , Ulcer , X Chromosome
18.
Article in English | WPRIM | ID: wpr-169844

ABSTRACT

Pure red cell aplasia (PRCA) and hypogammaglobulinemia are paraneoplastic syndromes that are rarer than myasthenia gravis in patients with thymoma. Good syndrome coexisting with PRCA is an extremely rare pathology. We report the case of a 50-year-old man with thymoma and PRCA associated with Good syndrome who achieved complete PRCA remission after thymectomy and postoperative immunosuppressive therapy, and provide a review of the pertinent literature.


Subject(s)
Agammaglobulinemia , Humans , Middle Aged , Myasthenia Gravis , Paraneoplastic Syndromes , Pathology , Red-Cell Aplasia, Pure , Thymectomy , Thymoma
19.
Rev. Assoc. Med. Bras. (1992) ; 62(6): 530-536, Sept. 2016. tab
Article in English | LILACS | ID: biblio-829499

ABSTRACT

Summary Objective: To describe clinical features, tomographic findings and pulmonary function in pediatric patients with primary hypogammaglobulinemia (PH). Method: A retrospective cohort study of children with PH who received intravenous immunoglobulin (IVIG) and prophylactic antibiotics between 2005 and 2010. Epidemiological and clinical features, computed tomography (CT) findings, and spirometric data were compared, assuming a 5% significance level. Results: We evaluated 30 patients with PH. After the start of IVIG replacement, there was a decline in the frequency of pneumonia (p<0.001). The 11 patients with bronchiectasis in their first CT scan were older at diagnosis (p=0.001) and had greater diagnostic delay (p=0.001) compared to patients without bronchiectasis. At the end of the study, 18 patients had bronchiectasis and 27 also had other lung disorders, alone or in combination. The Bhalla score was applied to the last CT scan of 16 patients, with a median score of 11 (range 7-21), with a positive correlation between the score and the number of pneumonias after the start of treatment (r=0.561; p=0.024). The score was also correlated with forced expiratory volume in one second (FEV1) and forced vital capacity (FVC) values in 13/16 patients, with negative correlation to FEV1 previously to bronchodilator (r=-0.778; p=0.002) and after bronchodilator (r =-0.837; p<0.001) and FVC (r=-0.773; p=0.002). Conclusion: Pulmonary complications were common in this cohort, despite the decrease in the frequency of pneumonia with treatment. Early investigation of patients with recurrent infections for primary immunodeficiencies can reduce the frequency of these complications. The monitoring of changes in spirometry may indicate the need to carry out radiological investigation.


Resumo Objetivo: descrever características clínicas, tomográficas e de função pulmonar em pacientes pediátricos com hipogamaglobulinemia primária (HP). Método: estudo de coorte retrospectivo de crianças com HP que recebiam gamaglobulina endovenosa (GEV) e antibiótico profilático entre 2005 e 2010. As características epidemiológicas, clínicas, os achados de tomografia e espirometria foram comparadas adotando níveis de significância de 5%. Resultados: foram avaliados 30 pacientes com HP. Após o início da reposição de GEV, houve redução da frequência de pneumonias (p<0,001). Os 11 pacientes que apresentavam bronquiectasias na primeira tomografia computadorizada (TC) eram mais velhos ao diagnóstico (p=0,001) e tiveram maior atraso no diagnóstico (p=0,001) quando comparados aos pacientes sem bronquiectasias. Ao final do estudo, 18 pacientes apresentavam bronquiectasias e 27/30 também apresentaram outras alterações pulmonares, isoladas ou concomitantes. O escore de Bhalla foi aplicado à última TC de 16/30 pacientes, com mediana do escore de 11 (variação 7-21), com correlação positiva entre o escore e o número de pneumonias após o início do tratamento (r=0,561; p=0,024). O escore foi ainda correlacionado com valores de volume expiratório forçado no primeiro segundo (VEF1) e capacidade vital forçada (CVF) obtidos por espirometria de 13/16 pacientes, com correlação negativa com VEF1 pré- (r=-0,778; p=0,002) e pós-broncodilatador (r=-0,837; p<0,001) e CVF (r=-0,773; p=0,002). Conclusão: complicações pulmonares foram frequentes nesta coorte, apesar da diminuição na frequência de pneumonias com o tratamento. A investigação precoce de pacientes com infecções de repetição para imunodeficiências primárias pode reduzir a frequência dessas complicações. A monitorização de alterações na espirometria pode indicar a necessidade de investigação radiológica.


Subject(s)
Humans , Male , Female , Child , Adolescent , Young Adult , Bronchiectasis/diagnosis , Agammaglobulinemia/diagnosis , Time Factors , Severity of Illness Index , Bronchiectasis/etiology , Tomography, X-Ray Computed , Retrospective Studies , Cohort Studies , Immunoglobulins, Intravenous/administration & dosage , Agammaglobulinemia/complications , Early Diagnosis , Agammaglobulinaemia Tyrosine Kinase/drug effects
20.
HU rev ; 42(1): 27-31, ago.2016.
Article in Portuguese | LILACS | ID: biblio-1639

ABSTRACT

A Imunodeficiência comum variável (ICV) é a segunda mais frequente das imunodeficiências primárias e tem como critérios diagnósticos: infecções recorrentes; idade acima de 4 anos; níveis reduzidos de IgG, de IgA e/ou IgM; exclusão de outras causas de hipogamaglobulinemias; ausência de isohemaglutininas e de resposta vacinal. O artigo visa relatar o caso de um paciente com ICV associada a infecções/infestações recorrentes e esplenomegalia. Trata-se de menino de 8 anos com antecedente de oito pneumonias, giardíase recorrente e esplenomegalia com pesquisa de anticorpos anti-HIV negativa. Apresentava IgG=614mg/dl, IgM= 19mg/dl e IgA=24mg/dl; CD4=24% (742 células/mm3), CD8= 70% (2150 células/mm3), CD19 = 247células/mm3 e linfócito B total = 9,2%. A ICV pode se manifestar através de cinco fenótipos clínicos: infecções, autoimunidade, infiltração linfocítica, malignidade e enteropatia. Neste caso, o paciente apresentava infecções/infestações recorrentes, as dosagens de imunoglobulinas encontram-se abaixo do percentil 3 para idade e o de linfócitos B, no limiar mínimo. Reiteramos a importância do diagnostico de ICV em paciente com infecções/infestações recorrentes e esplenomegalia pela importante prevalência na população.


Subject(s)
Common Variable Immunodeficiency , Agammaglobulinemia , Splenomegaly , Immunoglobulins , Immunologic Deficiency Syndromes , Infections
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