When to suspect an immune deficiency in adults?

Immune deficiencies in adults are quite common conditions in medical practice. However, they present with different clinical phenotypes, whether primary or secondary, which makes their diagnosis more tedious, hence diagnostic and management delays. Through this update, we will review the most common immune deficiencies, their presentations and features. This update's main aim was to propose to the practitioner a structured clinical reasoning and approach, in order to suspect an immune deficiency and initiate a guided exploration. It will also be easier for him to know when a referral to the specialist is necessary.

Budd-Chiari syndrome associated to Behcet disease: An observational retrospective multicenter study in Morocco.

Budd-Chiari syndrome (BCS) is considered a rare but serious complication of Behçet's disease (BD). This study was performed to define the prevalence, clinical and biological features, treatment, and clinical course of BSC associated with BD in a Moroccan population. We retrospectively analyzed the medical records of 1578 patients fulfilling the international diagnostic criteria for BD, including those with BSC. Eighteen male and 3 female patients, with a mean age of 36 ± 8.6 years. The inferior vena cava was involved in 81% (n = 17) of cases. All forms of BCS were noted: the chronic form in 52.4% (n = 11), the subacute form in 38% (n = 8), and the fulminant form (2 cases). Ascites was the main clinical sign and was present in 62% of patients (n = 13). Other venous thromboses (superior vena cava and lower limbs) were associated with BSC in 52.4% of patients (n = 11). Arterial involvement was noted in 28.6% (n = 6). Cardiac manifestations were present in 19% (n = 4) of the patients. All the patients received anticoagulants associated with corticosteroids. Immunosuppressants were used in 95% (n = 20). One patient received infliximab. Severe complications were noted in 38% (n = 8) of patients (digestive bleeding, confusion, infections and liver failure). Four patients have died during the study period. BCS in patients with BD is not uncommon and can be life threatening. It is frequently associated with other vascular manifestations that can be difficult to treat, particularly in the presence of pulmonary artery aneurysms. Prognosis improved with the use of immunosuppressants. Biologics can be promising in the early stages.

[Genetic basis of common variable immunodeficiency: from common to variable]. / Les bases génétiques du déficit immunitaire commun variable : du commun au variable.

Common variable immunodeficiency (CVID) is one of the most prevalent primary immunodeficiencies. It is characterized by hypogammaglobulinaemia, increased susceptibility to infections and impaired vaccine responses. CVID has an important, clinical, immunological and genetic heterogeneity. A minority of patients present with monogenic forms in CVID, unlike other primary immunodeficiencies. With the development of new technologies in genetics, including next generation sequencing, the number of identified genes in CVID is increasing. Therefore, CVID is now considered as an umbrella disease, gathering distinct pathological entities. It is currently recognized that CVID is a complex polygenic rather than a monogenic syndrome. A multi-omic approach combining genomics, epigenetics and proteomics will shed light on CVID complex pathophysiology, which still enigmatic. This integrative approach will also offer more targeted therapies, and therefore a personalized medicine. This review aims to discuss current knowledge concerning the genetic and molecular bases of CVID as well as their application in clinical practice.

[Epidemiological, clinical, therapeutic and evolutionary profile of ocular manifestations in patients with Behçet's disease]. / Œil et Maladie de Behçet: profil épidémiologique, clinique, thérapeutique et évolutif.

This study aims to analyze the epidemiological, clinical, therapeutic and evolutionary profile of ocular manifestations in patients with Behçet's disease. We conducted a retrospective, descriptive study of the medical records of 121 patients managed by specialists with expertise in this disease over a period of one year and a half between January 2015 and June 2016. The average age of patients was 35 years, 63.6% of patients were male, ocular involvement was inaugural in 24% of cases. Patients had anterior uveitis (7.4%), posterior uveitis (15.7%), vasculitis (19%), irido-crystalline synechias (17.5%), macular edema (7.4%), optic atrophy (4.1%), papillary edema (2.5%) and peripheral retinal ischemia (1.7%). In our series, 41.3% of patients were under colchicine, 23.1% under oral corticosteroids, 9% under intravenous corticosteroids, 4.9% under topical corticosteroids, 8.2% under immunosuppressive drugs and 5.8% under vitamin K antagonists. After an average follow-up of 1 year, 40% of patients had stable visual acuity while receiving treatment, 23% had a significant decrease in visual acuity and 5% of cases had complete vision loss. Adequate therapy enables quick containment of the infection and decreases the frequency and severity of recurrences, thus leading to an improvement of the visual prognosis in our patients compared with outcomes in some previous case serie.

[Causes of stroke among young people: role of the internist]. / Etiologies des accidents vasculaires cérébraux ischémiques chez les jeunes: apport de l'interniste.

In young people brain ischemias vary according to their cause and prognosis. In internal medicine they have a specific cause, considering the tertiary source of recruitment. Our study aimed to provide informations about some specific causes of this disease in young subject. We conducted a retrospective study by reviewing the medical records of young patients hospitalized at the Department of Internal Medicine in Casablanca over the period 2000-2014. All patients underwent CT scan angiography and/or magnetic resonance angiography that determined the nature and the topography of the ischemic stroke. Clinical examination was followed by appropriate investigations to determine the cause of brain ischemia. Data were collected from twenty-five patients, with a sex ratio of 0.73 and an average age of 36±7. Smoking was reported in 32% of cases, diabetes and high blood pressure were found in 8% of cases. Amnesia and migraine episodes were found in 24% of cases. Combination estrogen-progestin and a history of miscarriage were reportedin 12% of cases. Ischemic strokes were mainly caused by acute systemic lupus (32%) associated with antiphospholipid syndrome (80%), Behcet's disease (16%), Takayasu's disease (12%). In addition to anti-aggregation treatment, 76% of patients underwent corticosteroid and immunosuppressive therapies. Internists are involved in the treatment of patients with ischemic stroke, in particular to determine its cause. The causes of brain ischemias in young people are multiple. Research has to be rigorous in order to identify specific causes, to evaluate the risk of recidivism and to establish a therapeutic approach.

A Misleading Diagnosis of Sarcoidosis in an Older Woman.

Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency and has a reported prevalence of approximately 1:25,000 to 1:50,000. The fact that it is rarely considered as a diagnosis in adults can lead to diagnostic delay, especially in older patients, and to complications such as bronchiectasis and excess mortality. However, practitioners should first exclude common causes of hypogammaglobulinaemia before considering CVID. Here we present a case of CVID revealed by prolonged fever and complicated with granulomatous manifestations and bronchiectasis in an older woman without a history of recurrent infections. LEARNING POINTS: Common variable immunodeficiency (CVID) should be considered in atypical cases with unexplained chronic signs such as fever of unknown origin (even in older patients) after tuberculosis, HIV, neoplasia and connective tissue disease have been ruled out.Common causes of hypogammaglobulinaemia should be excluded before CVID is considered.CVID can mimic sarcoidosis.