Diagnosis of autoimmune disease in the setting of immunodeficiency
نویسندگان
چکیده
Case A 41-year-old male presented with abdominal pain, diarrhea, weakness, and shock. He was diagnosed with cardiac tamponade, underwent pericardial drainage and initiation of broad-spectrum antibiotics. The patient had a recent admission with bilateral pleural effusions, with negative infectious and malignancy workup. Macrocytic anemia, increased white blood cells, incidental abdominal abscess and splenic infarcts were found during this admission. Investigations again demonstrated elevated white blood cells (53.8% neutrophils, 12.1% lymphocytes, 29.7% monocytes) and anemia. Autoimmune workup was unremarkable except for presence of atypical ANCA and lupus inhibitor. Bone marrow biopsy was non-specific. He had low IgM and IgG levels suggesting a diagnosis of Common Variable Immunodeficiency (CVID). He received intravenous Solumedrol after his respiratory status deteriorated. He improved and was transitioned to prednisone, but a pathogen was never found. His positive response to steroids with worsening symptoms with prednisone taper initiation suggested that this was an autoimmune process. He was started on Hydroxychloroquine and intravenous immunoglobulin by Rheumatology. However he was subsequently diagnosed with Chronic Myelomonocytic Leukemia (CMML) based on cytogenetic studies by Hematology. Current treatment includes hydroxyurea and prednisone. Discussion This patient demonstrates the challenge of diagnosing autoimmunity in a patient with low levels of immunoglobulins such as in CVID. How to interpret autoimmune antibody titres in autoimmune conditions is unknown. Most literature describes immunodeficiency being diagnosed after the autoimmune condition [1] and often after immunosuppressant use. Studies on systemic lupus erythematosus and CVID have shown low levels of autoantibodies after immunodeficiency diagnosis.
منابع مشابه
A Review of Primary Immunodeficiency Diseases with Skin Manifestations
Introduction: Primary immunodeficiencies (PID) are rare heterogeneous disorders with defects in which one or more components of the immune system are malfunctioning. Clinical presentations of the patients according to type of immunodeficiency are variable. The majority of these patients are susceptible to infections depending on the type of disorder. In these patients, one of the most important...
متن کاملPrimary immunodeficiency diseases (PIDs) is a diverse group of diseases, characterized by a defect in the immune system. These patients are susceptible to recurrent respiratory infections, gastrointestinal problems, autoimmune diseases, and malignancies. In most cases, patients with primary immunodeficiency disorders have genetic defects and are monogenic disorders that follow a simple Mendelia...
متن کاملPrimary Antibody Deficiencies at Queen Rania Children Hospital in Jordan: Single Center Experience
Background: Primary antibody deficiency, the most common primary immunodeficiency disorder, represents a heterogeneous spectrum of conditions caused by a defect in any critical stage of B cell development and is characterized by impaired production of normal amounts of antigen-specific antibodies. Objective: This retrospective study aimed at description and analysis of demographic, clinical, im...
متن کاملRefractory Celiac Disease
Refractory celiac disease (RCD) is when malabsorption symptoms and villous atrophy persist despite strict adherence to a gluten free diet (GFD) for more than 12 months and other causes of villous atrophy have been ruled out. RCD is considered a rare disease and almost exclusively occurs in adults. Persistent diarrhea, abdominal pain, weight loss are the most common symptoms in RCD. Also, anemi...
متن کاملA cross-sectional study of clinical, histopathological and direct immmunofluorescence diagnosis in autoimmune bullous diseases
Background: Immunobullous diseases are morphologically heterogeneous and the differentiation between various subtypes is essential for proper treatment and prognosis. The aim of our study was to analyze and correlate clinical, histopathological, and immunofluorescence findings in autoimmune bullous diseases.Method: A c...
متن کاملIntestinal Pseudo-Obstruction as an Unusual Gastrointestinal Presentation in Pediatric Human Immunodeficiency Virus Infection
Intestinal pseudo-obstruction is a condition in which the intestine’s ability to push food through is reduced. It often leads to the dilation of the various parts of the bowel. It can be idiopathic or inherited from a parent, or caused by another disease. We report a rare case of human immunodeficiency virus (HIV) infection in a 3-year-old boy who referred with acute abdominal pain, and was lat...
متن کامل