Prevalence of autism spectrum disorders in relatives of patients with selective immunoglobulin A deficiency.

BACKGROUND: An association of selective IgA (immunoglobulin A) deficiency in individuals with autism has been previously described. The objective of this study was to examine the incidence of autism spectrum disorders (ASD) in children and siblings of selective IgA deficient patients. OBJECTIVE: to assess the likelihood of parents with the most common type of primary immunodeficiency (selective IgA deficiency) having children with ASD and to investigate the occurrence of ASD in siblings of the immunodeficient patients. METHODS: A study was conducted in 31 selective IgA deficient patients and 62 age and gender-matched controls. Children and siblings of IgA deficient patients and controls were screened for an ASD (autism spectrum disorder) using a standard questionnaire. RESULTS: Only one patient in the IgA deficient group had classical autism. Three children in that group (10.3%) had an ASD compared to only one in the control group (1.6%) and this difference was statistically significant. In terms of siblings, there was a higher occurrence of an ASD in the IgA deficient group than in the control group, but the difference was not statistically significant. A high incidence of allergies (71%) was documented in IgA deficient patients. All individuals with allergies had food sensitivities. There was a predominance of the male gender in cases identified with an ASD in all groups. CONCLUSIONS: A lower prevalence of ASD was observed in the IgA deficient group, as compared to other reports. The study suggests that screening for an ASD seems appropriate for children of IgA deficient patients.

Anaphylaxis: an analysis of cases evaluated at the Puerto Rico Medical Center over a ten-year period.

OBJECTIVE: To examine the clinical characteristics of patients with anaphylactic reactions evaluated at the Puerto Rico Medical Center over a ten year period. BACKGROUND: Anaphylaxis, an immunologic reaction classically initiated by the combination of an antigen and a mast cell fixed antibody (usually IgE), still carries a fatality rate of 500 to 1000 cases per year in the United States. It constitutes a medical emergency that needs to be identified promptly in order to install appropriate treatment. No studies of this condition have been conducted in Puerto Rico, specifically to assess the clinical presentation, main causes and outcome. METHODS: Eighty-three records of patients with a diagnosis of anaphylaxis were screened by retrospective and concurrent analysis. Of these, only 51 fulfilled the diagnostic criteria of anaphylaxis. Specific data gathered from those records assessed the clinical characteristics of each case, precipitating factors, severity of the reaction and outcome. A standard form was used for data gathering. A grading system was utilized to classify the severity of the clinical episodes. RESULTS: Cutaneous features were the most commonly found manifestations of anaphylactic reactions in the studied group. Only reactions graded 2 and 3 were identified. Reactions to medications were the most frequent identifiable causes of the entity. Multiple sensitivities to different allergens were not predictive of this clinical condition. CONCLUSIONS: The identification in this study that only cases with the more severe grades of anaphylaxis were evaluated and treated at our center, the inability to recognize an inciting cause in about one third of the patient sample and the fact that a minority of the treated patients received subsequent follow-up by an allergist, reflect the need to promote the training of physicians in the field of allergy in Puerto Rico and the continued education of all physicians in the Island regarding this clinical disorder.

Rheumatologic manifestations in patients with selected primary immunodeficiencies evaluated at the University Hospital.

OBJECTIVE: To characterize an IgA deficient and common variable immunodeficiency (CVI) group of patients in terms of the presence of rheumatologic manifestations. BACKGROUND: Although the molecular basis of some of the primary immunodeficiencies has been elucidated, it has not been possible to explain why in most cases these conditions are often associated with autoimmune manifestations, besides infections. The concomitant inability to fight infections adequately (immunodeficiency) and an inordinate reaction of the immune system to self components (autoimmunity) has been a perplexing situation. METHODS: The clinical and immunological profile of 71 patients fulfilling the diagnostic criteria of selective IgA deficiency (n=38) and common variable immunodeficiency (n=33) were evaluated for concurrent rheumatologic manifestations after a thorough medical history, physical examination and pertinent immunological parameters. RESULTS: The most common autoimmune conditions identified in patients with selective IgA deficiency were Crohn's disease and systemic lupus erythematosus (SLE); while immune thrombocytopenic purpura and Crohn's disease were the most common disorders associated to CVI. Anti-IgA antibodies were only found in 26.6% (95% C.I. 10.1-51.4) of patients with selective IgA deficiency but were present in all patients with that condition and SLE. Fifty per cent patients with CVI and ITP exhibited ANA positivity. CONCLUSIONS: The IgA-deficient group of patients in this study showed a higher prevalence of autoimmune conditions and greater positivity for ANA as compared to patients with CVI. In contrast to other reports with around 44% positivity of anti-IgA antibodies in selective IgA patients these were only present in 263% of patients with that disorder in this study. The high prevalence of antinuclear antibodies not associated with any clinical autoimmune condition in the IgA-deficient patients in this study will need to be further explored to ascertain why IgA-deficient patients may be at an increased risk of autoimmunity. Inflammatory bowel disease (Crohn's disease and ulcerative colitis) constituted the most common clinical autoimmune manifestations in both groups of patients studied. ITP was the commonest organ-specific autoimmune condition identified in the CVI group, as reported in previous publications. The limited number of patients studied does not allow a reliable estimate of the prevalence of SLE in the IgA-deficient population analyzed. The observed differences in frequency of positive antibodies and clinical autoimmune conditions in our patients cannot be taken as typical due to the limited number examined and the exclusion of pediatric cases in the IgA deficient group. A continued surveillance of these patients might help to establish more definite tendencies regarding rheumatologic manifestations in primary immunodeficiencies.

IgA deficiency: clinical correlates with IgG subclass and mannan-binding lectin deficiencies.

OBJECTIVE: To characterize an IgA deficient population in terms of the incidence of IgG subclass and mannose-binding lectin (MBL) deficiencies and the type and severity of infections and other associated disorders. BACKGROUND: Selective IgA deficiency is probably the commonest of the primary immunodeficiency disorders and although it may lead to an increased risk for respiratory and gastrointestinal infections and associated to various autoimmune diseases, it may also be asymptomatic. Several studies have suggested the need of a concomitant defect in order for manifestation of its symptoms. METHODS: A total of 27 patients fulfilling the diagnostic criteria of selective IgA deficiency were evaluated for IgG subclass and MBL deficiencies after a thorough medical history, physical examination and pertinent evaluation for concomitant medical conditions. RESULTS: The overall incidence of IgG subclass deficiency found in the IgA deficient group was 18.5%. MBL deficiency was found to be 3.7%. These frequencies may have been influenced by the age group evaluated and the size of the population studied. Severe infections were more common in patients with combined deficiencies, either IgA and any of the IgG subclasses or IgA and MBL deficiency. Atopy was widely represented in the patients studied. CONCLUSIONS: The observed relationship between combined deficiencies Ig A, IgG subclasses and MBL and the increased representation of severe infections needs to be corroborated in a larger sample of patients with an inclusion of pediatric patients.

Common variable immunodeficiency: experience in Puerto Rico.

Common variable immunodeficiency (CVI) is a primary immunodeficiency characterized by hypogammaglobulinemia and an increased susceptibility to infections. The degree and the type of deficiency of serum immunoglobulins, as well as, the clinical course vary from patient to patient, hence the term "variable". The aim of this report is to describe the clinical characteristics and the response to gammaglobulin therapy of a group of patients with CVI followed at the University Hospital of the Puerto Rico Medical Center. To our knowledge, no data on primary immunodeficiencies in Puerto Rico has been reported in the literature. The study group exhibits specific characteristics as compared to other reported series.

Comparison of oral nicotinamide adenine dinucleotide (NADH) versus conventional therapy for chronic fatigue syndrome.

OBJECTIVE: To compare effectiveness of oral therapy with reduced nicotinamide adenine dinucleotide (NADH) to conventional modalities of treatment in patients with chronic fatigue syndrome (CFS). BACKGROUND: CFS is a potentially disabling condition of unknown etiology. Although its clinical presentation is associated to a myriad of symptoms, fatigue is a universal and essential finding for its diagnosis. No therapeutic regimen has proven effective for this condition. METHODS: A total of 31 patients fulfilling the Centers for Disease Control criteria for CFS, were randomly assigned to either NADH or nutritional supplements and psychological therapy for 24 months. A thorough medical history, physical examination and completion of a questionnaire on the severity of fatigue and other symptoms were performed each trimester of therapy. In addition, all of them underwent evaluation in terms of immunological parameters and viral antibody titers. Statistical analysis was applied to the demographic data, as well as to symptoms scores at baseline and at each trimester of therapy. RESULTS: The twelve patients who received NADH had a dramatic and statistically significant reduction of the mean symptom score in the first trimester (p < 0.001). However, symptom scores in the subsequent trimesters of therapy were similar in both treatment groups. Elevated IgG and Ig E antibody levels were found in a significant number of patients. CONCLUSIONS: Observed effectiveness of NADH over conventional treatment in the first trimester of the trial and the trend of improvement of that modality in the subsequent trimesters should be further assessed in a larger patient sample.

Hereditary and acquired angioedema: experience with patients in Puerto Rico.

Hereditary (HAE) and acquired (AAE) angioedema are vascular reactions involving the sub mucosal tissues, representing localized edema caused by dilatation and increased permeability of the capillaries. HAE and AAE are clinical disorders characterized by angioedema that require prompt differentiation from other causes of angioedema in order to receive the most pertinent and effective therapeutic interventions. The aim of this report is to describe the clinical characteristics of patients with both HAE and AAE identified and followed at the Immunology Clinic of the University Hospital at the Puerto Rico Medical Center, their response and side effects to danazol therapy and their comparison with other series of similar patients reported in the literature. Overall, the patients in this sample presented a similar clinical profile compared to other reported series in the literature.

Immunological aspects in various forms of shock

Se presenta un repaso sobre los aspectos inmunológicos en tres formas del síndrome clínico de shock: anafiláctico, séptico y cardiogénico. Se hace una discusión de la participación de los derivados del ácido araquidónico, de la activación del sistema de complemento y de los efectos de los mediadores producidos por diferentes células que explican el origen de varias de las manifestaciones clínicas de estas tres entidades