Servicio de Inmunologia


Servicio de Inmunologia

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Yamazaki-Nakashimada M.A.,Servicio de Inmunologia | Leal-Leal C.,Instituto Nacional Of Pediatria | Zapata-Tarres M.,Instituto Nacional Of Pediatria
Acta Pediatrica de Mexico | Year: 2015

Background: Ataxia-telangiectasia (AT) is an autosomal recessive hereditary disease characterized by neurological deterioration, telangiectasias and immunodeficiency. The cause is a punctual mutation in ATM gene localized in chromosome 11q22.3-23.1, which translates into a phosphoinositol 3-kinase protein. This protein regulates the cell cycle and the repair of the DNA. This defect partially explains the increased risk of cancer. The association of the AT with cancer has been already established, being the major incidence of leukemias and lymphomas. In the literature, seven girls have been reported with the association of AT and germ cell solid tumors, specifically with dysgerminoma. Case report: We present the case of a 12-year-old female who was diagnosed with AT since 3 years of age. She presented recurrent respiratory tract infections requiring multiple hospitalizations and was treated with immunoglobulin and antimicrobial prophylaxis. She was admitted in the emergency ward with acute abdomen and was evaluated by surgical oncology and operated. An abdominal mass was found and resected. Pathology reported an ovaric mixed germ cell tumor with coriocarcinoma and dysgerminoma. She was treated with one dose of bleomicin (10 UI/m2), cyclophosphamide (1 g/m2/day for four days) and cysplatin (20 mg/m2/day for five days). During chemotherapy she presented a live threatening septic shock. Because of AT it was decided to stop chemotherapy. At present, the patient is alive without tumor activity for 17 months. Conclusion: AT is associated with leukemias and lymphomas. We report a case of an AT patient with ovarian tumor, coriocarcinoma and dysgerminoma components. A special approach is proposed for these inmunocompromised patients who are leaving more and are at high risk of cancer but may not tolerate standard treatments.

Gonzalez-Alba J.M.,Instituto Ramon Y Cajal Of Investigacion Sanitaria Irycis | Gonzalez-Alba J.M.,CIBER ISCIII | Holguin A.,Instituto Ramon Y Cajal Of Investigacion Sanitaria Irycis | Holguin A.,CIBER ISCIII | And 14 more authors.
Journal of Virology | Year: 2011

The molecular epidemiology of HIV-1 is constantly changing, mainly as a result of human migratory flows and the high adaptive ability of the virus. In recent years, Spain has become one of Europe's main destinations for immigrants and one of the western European countries with the highest rates of HIV-positive patients. Using a phylogeographic approach, we have analyzed the relationship between HIV-1 variants detected in immigrant and native populations of the urban area of Madrid. Our project was based on two coincidental facts. First, resistance tests were extended to naïve and newly diagnosed patients, and second, the Spanish government legislated the provision of legal status to many immigrants. This allowed us to obtain a large data set (n = 2,792) from 11 Madrid hospitals of viral pol sequences from the two populations, and with this unique material, we explored the impact of immigration in the epidemiological trends of HIV-1 variants circulating in the largest Spanish city. The prevalence of infections by non-B HIV-1 variants in the studied cohort was 9%, rising to 25% among native Spanish patients. Multiple transmission events involving different lineages and subsubtypes were observed in all the subtypes and recombinant forms studied. Our results also revealed strong social clustering among the most recent immigrant groups, such as Russians and Romanians, but not in those groups who have lived in Madrid for many years. Additionally, we document for the first time the presence of CRF47_BF and CRF38_BF in Europe, and a new BG recombinant form found in Spaniards and Africans is tentatively proposed. These results suggest that the HIV-1 epidemic will evolve toward a more complex epidemiological landscape. © 2011, American Society for Microbiology.

Escamilla-Quiroz C.,Hospital Infantil Of Especialidades | Yamazaki-Nakashimada M.A.,Servicio de Inmunologia
Revista Alergia Mexico | Year: 2011

The Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency and is inherited in an X-linked pattern. Affected patients have mutations in the gene encoding Wiskott-Aldrich syndrome protein (WASP), a key regulator of signaling andreorganization of the cytoskeleton in hematopoietic cells. Mutations in WASP gene lead to a wide clinical spectrum ranging from thrombocytopenia, immunodeficiency, eczema and high susceptibility to tumor development and manifestations such as skin infections, suppurative otitis and pneumonia. Clinical symptoms start around the age of 6 months. Incidence of this disease is 1-10/millions of births. The laboratory tests show low platelet count and small size, but definitive diagnosis can only be confirmed by the demonstration of mutations in WASP gene. Treatment of WAS is based on antimicrobial therapy, prophylactic use of intravenous gamma globulin and bone marrow transplantation. Life expectancy in treated individuals is around 20 years but without treatment is 3.5 years. © 2011 Colegio Mexicano de Inmunología Clínica y Alergia, AC y de la Sociedad Latinoamericana de Alergia, Asma e Inmunología. Publicado por Elsevier México.

Muriel-Vizcaino R.,Insttuto Nacional de Pediatria | Trevino-Garza G.,Hospital Regional Materno Infantl Of Alta Especialidad Of Monterrey | Murata C.,Insttuto Nacional de Pediatria | Staines-Boone A.T.,Servicio de Inmunologia | Yamazaki-Nakashimada M.A.,Servicio de Inmunologia
Acta Pediatrica de Mexico | Year: 2016

Primary immunodeficiencies (PID) are genetic diseases affecting immunological normal response. In the great majority of cases affected individual sare predisposed to recurrent and/or severe infections with impaired quality of life (QoL). The most frequent PID are defects in the production of antibodies. When diagnosis and treatment are not done properly, permanent damage may occur in affected organs and further affecting QoL. Objective: To evaluate QoL in patients with antibody PID compared with QoL of healthy controls. Methods: Cross-sectional study with the application of the instrument "Pediatric Quality of Life Inventory" (PedsQL) in its Mexican Spanish validated version. The PedsQL score difference between children with PID and healthy children was determined by the Student t test. The effect of a delayed in diagnosis was evaluated by analysis in a covariance model. 28 patients were included. The median age was 5 years and 5 months. Results: The average age at diagnosis was 6 years and 3 months. The median diagnostic delay was 3 years 3 months. The average QoL in the patients was 74.1 (SD ± 13.8) and 83.3 (SD ± 10.1) for controls (p = 0.005). The relationship between QoL, delayed diagnosis and presence of complications was analyzed using a linear model that was marginally significant (p = 0.056). Negative correlation between levels of IgG in the last year and the quality of life was found. It was observed that in patients with bronchiectasis, QoL decreased significantly as the duration of delayed diagnosis (p = 0.007). Conclusions. We consider necessary to assess QoL of patients with PID and to monitoring it during treatment in order to have an impact not only in reducing the number of infections, hospitalizations and complications, but also in improving their QoL. It should be designed a QoL measuring instrument specific for patients with PID.

Mojica-Martinez D.,Centro Medico Nacional | Yamazaki-Nakashimada M.A.,Servicio de Inmunologia | De la Luz Garcia-Cruz M.,Instituto Nacional Of Enfermedades Respiratorias | Teran-Juarez L.M.,Instituto Nacional Of Enfermedades Respiratorias | And 6 more authors.
Allergologia et Immunopathologia | Year: 2014

Background: Common variable immunodeficiency (CVID) is characterised by hypogammaglobulinaemia and a broad clinical spectrum, mainly showing recurrent bacterial infections accompanied sometimes by increased susceptibility to chronic lung disease, autoimmunity, and neoplastic diseases. Objectives: To evaluate the clinical and immunological characteristics of patients with CVID in Mexico. Methods: This is a retrospective analysis of 43 patients with CVID from the Immunology Division of seven different reference centres in Mexico. Patients were diagnosed according to the diagnostic criteria of the European Society for Immunodeficiency Diseases. We collected demographics, clinical and immunological data from each patient and a statistical analysis was performed. Results: There were 23 (53.5%) male and 20 (46.5%) female patients. Median age at onset of disease was 13.7 years, and median age at diagnosis was 19 years. Average delay in diagnosis was 12.5 years. The median total serum levels of IgG, IgM, and IgA at diagnosis were 175, 18, and 17.8. mg/dL, respectively. The mean percentage of CD19+ B cells was 8.15%. Sinusitis (83%), pneumonia (83%), gastrointestinal infection (70%), and acute otitis media (49%) were the most common manifestations. Bronchiectasis was present in 51% of the patients, 44% manifested non-infectious chronic diarrhoea, and 70% experienced weight loss. Autoimmunity was present in 23% of the patients; haemolytic anaemia and autoimmune thrombocytopenic purpura were the most common presentations. Allergy was present in 30.2% of patients, with allergic rhinitis and asthma being the most frequent types. Two patients developed malignancy. All the patients received Intravenous immunoglobulin (IVIG) as a fundamental part of the treatment at a mean dose of 408. mg/kg. Conclusion: This is the first cohort of CVID reported in Mexico We found that infection diseases were the most frequent presentations at onset. Moreover, patients had an average diagnosis delay of twelve years and thus a major prevalence of bronchiectasis. We suggest performing an extended analysis of patients with CVID patients in other Latin American countries. © 2012 SEICAP.

Yamazaki-Nakashimada M.A.,Servicio de Inmunologia | Gomez-Tello H.,Hospital del Nino Poblano | Vargas-Camano M.E.,Servicio de Inmunologia y Alergia | Canseco-Raymundo R.,Hospital Of Especialidades Cmn La Raza | And 8 more authors.
Allergologia et Immunopathologia | Year: 2014

Background: There are two inheritance patterns, the X-linked recessive (XL) pattern and the autosomal recessive pattern. There is no information on the predominant inheritance pattern of male patients with chronic granulomatous disease (CGD) in Mexico. Objective: The aim of this study was to determine the inheritance pattern in a cohort of Mexican male patients with CGD by means of the detection of an XL status carrier among their female relatives, and to describe the frequency of discoid lupus (DL) among carriers. Methods: We detected the female relatives within the families of male patients with CGD, and carried out the 123 dihydrorhodamine (DHR) assay in all female participants. All carriers were questioned for current or past established DL diagnosis. Results: We detected 33 families with one or more CGD male patients; we found an XL-CGD in 79% of the relatives from at least one female relative with a bimodal pattern. For the remaining seven relatives we were not able to confirm a carrier status by means of a DHR assay. Moreover, we detected one mother with CGD secondary to skewed X-chromosome inactivation. We also found 47 carriers, and only one carrier with DL among them. Conclusion: We concluded that XL-CGD is the most frequent form of CGD in a cohort of CGD male patients in Mexico. DHR assay is a fast and practical tool to determine the CGD form in the Latin-American countries. Finally, DL frequency in Mexico is lower than that reported in the literature for other regions of the world. © 2013 SEICAP.

Saez-De Ocariz M.,Servicio de Dermatologia | Carrillo-Rincon A.,Servicio de Dermatologia | Murata C.,Metodologia de la Investigacion | Gutierrez-Hernandez A.,Servicio de Inmunologia | And 2 more authors.
Acta Pediatrica de Mexico | Year: 2014

Background: Dystrophic calcinosis is associated with juvenile dermatomyositis and systemic sclerosis. Clinical diagnosis is performed through the detection of subcutaneous, hard nodules. Conventional radiographic studies may demonstrate calcium deposits, however, with very early lesions X-rays may prove insufficient. There are a few studies where scintilliography has been used to identify dystrophic calcinosis. Objectives: To estimate the frequency of dystrophic calcinosis in patients with juvenile dermatomyositis and systemic sclerosis/CREST syndrome. To estimate the concordance between the diagnoses of dystrophic calcinosis obtained by physical examination and scintigraphy. Patients and Methods: Observational, transversal and comparative study in which patients of both genders, between 5 and 7 years of age with the diagnoses of juvenile dermatomyositis and systemic sclerosis/CREST syndrome were included in order to detect dystrophic calcinosis by physical examination and scintigraphy. Fisher's exact test was used to evaluate the association between both diagnostic methods, Kappa test was used to evaluate the level of concordance between both methods and a distribution by group analysis was used to analyze the extent of dystrophic calcinosis with both methods. Sensitivity and specificity for scintigraphic findings in soft tissues, bony protrusions , ribs and vertebrae was also estimated. Results: The frequency of dystrophic calcinosis was 80%. Dystrophic calcinosis was detected through physical examination in 16 patients and through scintigraphy in 9 patients. No association or concordance was found between the clinical and the scintigraphic findings. Scintigraphy has a 37.5% sensitivity for the detection of dystrophic calcinosis in soft tissues and 43.8% in bony protrusions, but is ideal for its detection in the ribs. Conclusions: Both, physicial examination and scintigraphy are complementary tools for the detection of dystrophic calcinosis.

Morales-Villanueva C.E.,Hospital General | Morales-Cruz V.G.,Servicio de Inmunologia | Alonso-Martinez D.,Servicio de Enfermedades Intersticiales | Suarez-Landa T.,Servicio de Enfermedades Intersticiales | And 2 more authors.
Revista del Instituto Nacional de Enfermedades Respiratorias | Year: 2013

Introduction: In patients with idiopathic pulmonary fibrosis, the calculation to infer the mean pressure of the pulmonary artery with an equation involving function tests respiratory such as forced vital capacity, carbon monoxide diffusing capacity and oxygen saturation ambient air, is considered useful for the diagnosis of pulmonary hypertension, with less variability than echocardiography in relation to cardiac catheterization. Not yet been studied in other interstitial lung diseases. Objective: Estimate the agreement of the equation of pulmonary function tests with echocardiography in the diagnosis of pulmonary hypertension in patients with hypersensitivity pneumonitis. Results: In 40 patients with hypersensitivity pneumonitis by echocardiogram, 80% had pulmonary hypertension and by equation function tests respiratory the 82%; with a concordance of 0.42 (p = 0.007). Conclusions: The concordance of pulmonary hypertension by function tests respiratory equation and echocardiography was statistically significant. The oxygen saturation below 90% and carbon monoxide diffusing capacity less than 40% of predicted was associated more frequently with pulmonary hypertension diagnosed by function tests respiratory.

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