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.

Mycophenolate Mofetil Use in Severe Myocarditis Complicating Systemic Lupus.

Cardiac involvement represents an increasingly frequent complication in systemic lupus, with pericarditis being the most classic cardiac manifestation. However, the most severe and fatal form seems to be myocarditis. We present the case of a patient with systemic lupus complicated by cardiogenic shock secondary to troponin-negative acute myopericarditis and successfully treated with mycophenolate mofetil and corticosteroid therapy. A 33-year-old woman with no past medical history presented with asthenia and inflammatory arthralgia. She was admitted in June 2021 for acute heart failure. Transthoracic cardiac ultrasound showed dilated cardiomyopathy with global hypokinesis (20-25% of ejection fraction) and right ventricular dysfunction without significant mitral and aortic valve disease. She had raised proBNP (pro-brain natriuretic peptide), low troponin, normochromic normocytic anemia at 10.4 g/dL, positive direct Coombs, lymphopenia at 460/mm3, serum creatinine at 23.9 mg/L, and proteinuria/creatininuria 2.48 g/g. Cardiac magnetic resonance imaging (CMR) suggested the diagnosis of myopericarditis. The etiological assessment did not identify an infectious, toxic, or medicinal cause. The clinical picture suggested the possibility of an autoimmune disease. The patient presented with lesions suggestive of cutaneous vasculitis, with oral ulcers with polyarthritis. The autoimmune workup showed anti-nuclear antibodies at 1:1,280, anti-native DNA antibodies at 210 IU/mL (normal < 10 IU/mL), and positive anti-SM Abs. The diagnosis of lupus myopericarditis complicated by cardiogenic shock was made, which was associated with acute renal impairment. The patient was initiated on heart failure medications along with corticosteroids and mycophenolate mofetil. On day 15, the left ventricular ejection fraction improved to 45-50%, with clinical improvement in signs of heart failure and general condition. The existence of myopericarditis without obvious etiology, especially when there are extra-cardiac signs such as skin and joint involvement, should lead us to look for systemic lupus in order to start etiological treatment in addition to cardiac medical treatment. Until now, there is no standard treatment for lupus myocarditis, but the use of mycophenolate mofetil seems to be a promising treatment.

[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.

Burkitt's lymphoma of medial part of clavicle: Case report of unusual localization.

INTRODUCTION: Burkitt lymphoma is a form of non-Hodgkin's lymphoma in which cancer starts in immune cells called B-cells. Recognized as a fast-growing human tumor, it is considered as a medical emergency requiring immediate diagnostic and therapeutic intervention. However, intensive chemotherapy can achieve long-term survival in more than half the people with Burkitt lymphoma. CASE REPORT: We report a case of Burkitt's lymphoma of medial part of clavicle was diagnosed in a 60 years year-old man and review the literature concerning the clinical features, radiological appearance, histopathological findings and treatment options. DISCUSSION: Clinical course of Burkitt lymphoma is aggressive and rapid, commonly occurs in children and young adults with frequent involvement of Bone Marrow, associated with impaired immunity and is rapidly fatal if left untreated, early diagnosis can be life saving for Burkitt lymphoma. As per the literature available this is the second case of Burkitt's lymphoma presenting primarily in medial part of clavicle.

[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.