CD40 Ligand Deficiency

CD40 ligand deficiency (CD40L), currently classified as an inborn error of immunity affecting cellular and humoral immunity, prevalently emerges in boys within the first two years of life. It manifests itself as a decrease in serum IgG, IgA and IgE, with normal or high IgM, defects in T cell proliferation, and decrease in soluble CD40L. These accompany sinopulmonary and/or gastrointestinal infections, and there may be infections caused by pyogenic bacteria, opportunistic infections, autoimmune diseases, and neoplasms. Mild and moderate cases of this deficiency may respond well to prophylactic antibiotic therapy or to human immunoglobulin replacement therapy, in addition to the early treatment of infections. Severe cases can be treated with hematopoietic stem cell transplantation, which allows the healing of such patients, rather than sequelae and a poor progression. Thus, its differential diagnosis with other inborn errors of immunity is essential, especially CD40 deficiency and variable common immunodeficiency; the reason why we have proposed the present literature review

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A prospective ten-year follow-up of patients with chronic urticaria

BACKGROUND: Chronic urticaria can be the initial clinical presentation of a number of different diseases. The objective of the present study was to report the associated diseases during a ten-year clinical-laboratory follow-up in patients with an initial diagnosis of chronic spontaneous urticaria (CSU) of unknown cause. METHODS: A prospective, longitudinal cohort study with a ten-year clinical-laboratory follow-up was conducted. Patients with a history of urticarial plaques of over six weeks presenting as the only clinical symptom were selected. Individuals with other clinical conditions, urticaria of known causes or chronic physical urticaria were excluded. The following tests were initially performed: haemogram, urine type I, stool parasite exam and sedimentation rate. The following exams were ordered during follow-up: PPD; urine culture; serology tests; antithyroid and antinuclear antibodies, rheumatoid factor, lupus anticoagulant; thyroid hormones; serum immunoglobulin; paranasal sinus and thorax radiographs; testing for BK and Helicobacter pylori; and prick tests. RESULTS: Infections were diagnosed in 29% of patients (syphilis, parasitosis, H. pylori, urinary infection, tuberculosis, hepatitis B and C); autoimmune diseases in 21% (thyroiditis, rheumatoid arthritis and antiphospholipid antibody syndrome); primary immunodeficiencies in 4% (IgA and IgG2 deficiencies); and chronic myeloid leukaemia in 1%. At ten-years of follow-up, the urticaria diagnosis was CSU of unknown cause in 45% of the cases. Conclusion; This ten-year clinical-laboratory follow-up of 100 individuals with chronic urticaria as the initial diagnosis revealed the presence of associated diseases in over half of the cases. The most prevalent diseases were infections and autoimmune diseases besides primary immunodeficiencies and blood diseases

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Immune function in acute stress / Funcion inmunologia en el estrés agudo

The aim of this study was to evaluate immune function in acute stress in medical students before academic examinations. Twenty-five medical students were selected because they presented intense acute stress, evaluated by the presence of the following classic signs: cold hands, intense sudoresis in the extremities, generalized sudoresis, paleness, tachycardia, confused reasoning, nervous irritability, diarrhea, and sleep disorders in the hours preceding the examination (agitated sleep, insomnia). Methods: Immediately before the examination, peripheral blood was collected from the 25 students presenting acute stress to analyze T and B cells, CD4+ and CD8+ cells, immunoglobulins, and C3 and C4 complement components, as well as phagocytic activity in neutrophils and monocytes. These investigations were repeated in the same students in situations free of acute stress. The results of the two samples collected from each student were compared. Results: The means and standard deviations showed no significant differences for any of the parameters analyzed (p $ 0.01). Conclusion: We conclude that acute stress did not cause changes in the lymphocyte subpopulations, phagocytic activity of neutrophils and monocytes, serum immunoglobulins, or C3 and C4 complement components in students participating in the present study. In conditions of basal chronic stress, acute stress may cause alterations in immune function

El objetivo de este estudio fue el de evaluar la función inmunológica durante situación de estrés agudo de alumnos de una Facultad de Medicina durante las horas que anteceden a los exámenes. Veinticinco estudiantes de la Facultad de Medicina fueron seleccionados por que presentaban síntomas de acentuado estrés agudo, evaluado por la presencia de las señales clásicas del estrés: manos frías, sudor intenso de extremidades y generalizado, palidez cutánea, taquicardia, raciocinio confuso, nerviosismo/irritabilidad, diarrea, alteraciones del sueño en las horas anteriores a la prueba (agitación e insomnio). Métodos: inmediatamente antes de las pruebas se tomaron muestras de sangre periférica a los estudiantes que presentaban señales de estrés agudo, para análisis de células T y B, células CD4+ y CD8+, inmunoglobulinas, fracciones C3 y C4 del sistema complemento así como actividad fagocitária de neutrófilos y monocitos. Estos exámenes fueron repetidos en los mismos estudiantes libres del estrés agudo, comparándose los resultados con los valores observados para el mismo individuo en situación de estrés agudo. Resultados: las medias estadísticas no demostraron diferencias importantes para ninguno de los parámetros analizados (p>0.01) Conclusión: concluimos que el estrés agudo no determinó alteraciones en las subpoblaciones linfocitárias, actividad fagocitária de neutrófilos y monocitos, inmunoglobulinas séricas y fracciones C3 y C4 del sistema complemento de los estudiantes analizados. Es posible que en condiciones de estrés crónico basal, el estrés agudo pueda determinar alteraciones de la función inmunológica

Common variable immunodeficiency

We describe a patient with common variable immunodeficiency who three times presented an anaphylactic reaction after intravenous immunoglobulin administration. These reactions were attributed to the total absence of IgG 2, 3 and 4 (AU)

Paciente con inmunodeficiencia variable común que presentó en tres ocasiones una reacción anafiláctica tras la administración intravenosa de inmunoglobulina; este hecho se atribuyó a la ausencia total de IgG 2, 3 y 4 (AU)

Serum IgE level in malnutrition

Infections and malnutrition remain the main causes of infant mortality in developing countries. In protein-calorie malnutrition, immunologic responses are affected, which often facilitates infections. However, the presence of asthma and allergic rhinitis are not commonly recognized in malnourished individuals. The aim of this study was to evaluate serum IgE values in children with primary moderate protein-calorie malnutrition. Methods: The level of IgE in peripheral blood of 18 children between 2 and 4 old with moderate protein-calorie malnutrition and without associated parasitic infestation was compared with that of 15 well nourished children of similar age. IgE serum levels were measured by an immunoenzymatic method. Results: The median level of serum IgE in malnourished children was 69.30 ng/ml while the control group showed a mean level of 95.97 ng/ml. This difference was significant (p < 0.01). Conclusion: Malnourished children show decreased serum IgE levels. This might be one of the adaptive mechanisms of malnutrition employed in an attempt to use energy and protein reserves for growth and other functions. Our results are coherent with the decrease in IgE mediated reactions in malnourished patients (AU)

Las infecciones y la malnutrición siguen siendo las causas principales de la mortalidad infantil en los países en desarrollo. En la malnutrición calórico-proteica las respuestas inmunitarias suelen estar afectadas, lo que a menudo facilita las infecciones. Sin embargo, habitualmente no se reconoce la presencia de asma y rinitis alérgica en los sujetos malnutridos. El objetivo de este estudio fue determinar los valores séricos de IgE en niños con malnutrición proteico-calórica moderada primaria. Métodos: En sangre periférica se comparó el nivel de IgE de 18 niños de 2 a 4 años de edad con malnutrición proteico-calórica moderada y sin infestación parasitaria asociada, con la de 15 niños bien nutridos de edad similar. Las concentraciones séricas de IgE se determinaron mediante un método inmunoenzimático. Resultados: La mediana de la concentración sérica de IgE de los niños malnutridos fue de 69,30 ng/ml, mientras que el grupo de control presentó un valor medio de 95,97 ng/ml, lo que se considera una disminución significativa (p < 0,01).Conclusión: El contenido de IgE sérica de los niños malnutridos es bajo. Éste podría ser uno de los mecanismos de adaptación de la malnutrición en un intento de utilizar la energía y las reservas de proteínas para el crecimiento y otras funciones. Nuestros resultados son coherentes con la disminución de las reacciones mediadas por IgE en los pacientes malnutridos (AU)

Atopic dermatitis with mononuclear phagocytic activity deficiency

Five patients with atopic dermatitis, three males and two females, aged 2 to 17 years, had positive reactions to air allergens (Dermatophagoides pteronyssinus and/or farinae). All the patients suffered from severe recurrent dermatophytosis that responded poorly to antifungal treatment. The results of immunologic evaluation by laboratory tests were normal, except for a decrease in the ingestion phase by mononuclear phagocytes. After diagnosis of immunodeficiency, ketoconazole shampoo was used prophylactically and at the very first signs of recurrence of dermatophytosis, systemic antifungal treatment was started, without concurrent use of macrolides and with monitoring of hepatic function. The fungal infections responded well to this treatment and the patients' quality of life markedly improved (AU)

Cinco pacientes con dermatitis atópica, tres varones y dos mujeres, de 2 a 17 años de edad, tuvieron reacciones positivas a neuroalergenos (Dermatophagoides pteronyssinus o farinae). Todos padecían una dermatofitosis grave y recurrente que respondían con dificultad al tratamiento antifúngico. La evaluación inmunológica mediante pruebas analíticas fue normal, excepto por la presencia de disminución de la fase de ingestión por fagocitos mononucleares. Después de diagnosticar la inmunodeficiencia, se utilizó de manera profiláctica champú de ketoconazol y ante los primeros signos de recidiva de la dermatofitosis se inició tratamiento antifúngico por vía general, siempre sin el uso concurrente de macrólidos y con control de la función hepática. Las infecciones fúngicas ahora respondieron bien y la calidad de vida de los pacientes mejoró considerablemente (AU)