Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID Registry

This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras, Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered, the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies. All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency diseases, more work on improving the registration of patients by each participating country and by countries that have not yet joined LAGID is still needed. Latin American Group for Primary Immunodeficiency Diseases     

Granuloma annulare and sarcoidosis

Granuloma annulare (GA) and sarcoidosis are two diseases of unknown cause which involve the skin and whose basic pathology is a mononuclear histiocytic cellular reaction. Biopsy plays the major role in the diagnosis of both diseases, and no other routine laboratory test for either disease is currently available. Sarcoidosis is generally considered to be an allergic or immune granuloma with inconstant defects in cell-mediated immunity (Broom & MacLaurin, 1973). There have been no immunological studies of GA. We recently studied 14 cases and found circulating lymphokines (macrophage migration inhibition factor) in 11 which correlated with circulating macrophage migration inhibition factor in sarcoidosis (9 of 10 cases) (Umbert, Belcher & Winkelmann, 1976). The co-existence of GA and sarcoidosis in 5 patients suggests to us that there are very similar immunological reactions as well as pathology in both diseases and that the elucidation of the pathogenesis of one disease should aid in understanding the other. To our knowledge, there are no prior reports of systemic sarcoidosis coexisting with or manifesting the histological picture of GA. In this report we have demonstrated by clinical and histological criteria that GA and sarcoidosis can co-exist.     

Joint replacement for a spontaneously ankylosed hip in a haemophilic patient

A cemented Charnley total hip prosthesis was implanted in a 48-year-old man with mild haemophilia (factor VIII 4 IU dL-1) in his right spontaneously ankylosed hip. At the time of surgery he was anti-HCV positive, anti-HIV negative, and no circulating inhibitors were encountered. The indication for surgery was long-lasting intractable low back and ipsilateral knee pain. At 4-month follow-up, relief of pain was achieved as well as correction of limb-length discrepancy, with a good result according to the Mayo Clinic hip score. Doses of 50 IU kg-1 body weight of recombinant factor VIII (Recombinate; Baxter, Glendale, California, USA) was used during the 2 weeks of admittance to the hospital. The dosage was adjusted according to the recoveries of factor VIII, with an overall factor consumption of 68 000 IU. As far as we know this is the first case reported in the literature of a person with haemophilia in whom a spontaneous hip ankylosis has been satisfactorily converted in a total hip arthroplasty with a short-term follow-up. However, a much longer follow-up is still needed to ascertain the efficacy of this surgical procedure in haemophilia.     

Manifest Fast and Slow Pathway Conduction Patterns and Reentry in a Patient with Dual AV Nodal Physiology

Manifest Fast and Slow AV Nodal Conduction Patterns and Reentry. A 52-year-old woman with paroxysmal supraventricular tachycardias (PST) showed short and long PR intervals during sinus rhythm. Repetitive episodes of PST due to simultaneous anterograde conduction through fast and slow conduction pathways (one P-two QRS) were recorded. A self-limited episode of non-paroxysmal AV nodal reentry with anterograde slow and retrograde fast pathway conduction was initiated by a single atrial premature beat. Each pathway depicted distinct refractory periods, conduction velocities, unidirectional block, and Wenckebach-type block suggesting the possibility of a well-defined anatomical substratum.     

Wide QRS Complex Arrhythmia with Alternating QRS Morphology: What Is the Mechanism?

A 75‐year‐old man was admitted due to an electrical storm with appropriate recurrent implantable cardioverter defibrillator (ICD) discharges. The patient had had an extensive anterolateral myocardial infarction with associated severe left ventricular dysfunction 10 years earlier (left ventricular ejection fraction, 25%), and an ICD was placed 9 years before admission for primary prevention of sudden cardiac death. A first invasive study induced up to five ventricular tachycardias and an extensive endocardial substrate ablation was performed. Despite intravenous β‐blockers, general anesthesia and procainamide infusion, the patient continued to have recurrent episodes of very slow sustained ventricular tachycardia with a right bundle branch block pattern. In a subsequent invasive study, no mid‐diastolic activity was found despite careful mapping during the induced clinical ventricular tachycardia and ablation attempts inside the apical endocardial scar were unsuccessful. A percutaneous epicardial approach with navigation system support (EnSite Precision^TM Cardiac Mapping System v. 2.0, St. Jude Medical, St. Paul, MN, USA) without antiarrhythmic infusion was planned. A wide QRS complex rhythm with alternating QRS morphology was readily induced by epicardial ventricular pacing trains (Fig. 1, top) that elicited both arrhythmia QRS patterns with very long stimulus QRS intervals (Fig. 1, bottom). What is the possible mechanism of this arrhythmia? Do we need further pacing maneuvers during the arrhythmia to localize critical sites at which ablation pulses can predictably be successful?