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Clinics in Chest Medicine Sep 2016Lymphocytic interstitial pneumonia (LIP) is a rare lung disease on the spectrum of benign pulmonary lymphoproliferative disorders. LIP is frequently associated with... (Review)
Review
Lymphocytic interstitial pneumonia (LIP) is a rare lung disease on the spectrum of benign pulmonary lymphoproliferative disorders. LIP is frequently associated with connective tissue diseases or infections. Idiopathic LIP is rare; every attempt must be made to diagnose underlying conditions when LIP is diagnosed. Computed tomography of the chest in patients with LIP may reveal ground-glass opacities, centrilobular and subpleural nodules, and randomly distributed thin-walled cysts. Demonstrating polyclonality with immunohistochemistry is the key to differentiating LIP from lymphoma. The 5-year mortality remains between 33% and 50% and is likely to vary based on the underlying disease process.
Topics: Bronchoalveolar Lavage; Comorbidity; Connective Tissue Diseases; Dysgammaglobulinemia; Epstein-Barr Virus Infections; HIV Infections; Humans; Lung; Lung Diseases; Lung Diseases, Interstitial; Lymphoproliferative Disorders; Pseudolymphoma; Sjogren's Syndrome; Tomography, X-Ray Computed
PubMed: 27514593
DOI: 10.1016/j.ccm.2016.04.009 -
Clinical Immunology (Orlando, Fla.) Jan 2019Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased... (Review)
Review
Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM. Various X-linked and autosomal recessive/dominant mutations have been reported as the underlying cause of the disease. Based on the underlying genetic defect, the affected patients present a variety of clinical manifestations including pulmonary and gastrointestinal complications, autoimmune disorders, hematologic abnormalities, lymphoproliferation and malignancies which could be controlled by multiple relevant therapeutic approaches. Herein, the epidemiology, pathogenesis, clinical manifestations, diagnosis, management, prognosis and treatment in patients with HIGM syndrome have been reviewed.
Topics: Humans; Hyper-IgM Immunodeficiency Syndrome; Mutation; Prognosis
PubMed: 30439505
DOI: 10.1016/j.clim.2018.11.007 -
Scandinavian Journal of Immunology Jan 2017Selective immunoglobulin A deficiency (SIgAD) is the most common primary antibody deficiency. Although more patients with SIgAD are asymptomatic, selected patients... (Review)
Review
Selective immunoglobulin A deficiency (SIgAD) is the most common primary antibody deficiency. Although more patients with SIgAD are asymptomatic, selected patients suffer from different clinical complications such as pulmonary infections, allergies, autoimmune diseases, gastrointestinal disorders and malignancy. Pathogenesis of SIgAD is still unknown; however, a defective terminal differentiation of B cells and defect in switching to IgA-producing plasma cells are presumed to be responsible. Furthermore, some cytogenic defects and monogenic mutations are associated with SIgAD. There is no specific treatment for patients with symptomatic IgA deficiency, although prophylactic antibiotic therapy along with circumstantial immunoglobulin replacement with justification and supportive care (using a product that contains minimal IgA) could be helpful for patients with a severe phenotype. The epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis, management and treatment in patients with SIgAD have been reviewed.
Topics: Animals; Antibiotic Prophylaxis; B-Lymphocytes; Cell Differentiation; Ethnicity; Humans; IgA Deficiency; Immunity; Incidence; Mutation; Phenotype; Prevalence
PubMed: 27763681
DOI: 10.1111/sji.12499 -
Gastroenterology Clinics of North... Mar 2019The presentation in celiac disease is shifting from the classical malabsorptive presentation to more nonclassical presentations, requiring clinicians to maintain a high... (Review)
Review
The presentation in celiac disease is shifting from the classical malabsorptive presentation to more nonclassical presentations, requiring clinicians to maintain a high level of suspicion for the disease and to be aware of the possible extraintestinal manifestations. The diagnosis of celiac disease is guided by initial screening with serology, followed by confirmation with an upper endoscopy and small intestinal biopsy. In some pediatric cases, biopsy may be avoided.
Topics: Adult; Biopsy; Celiac Disease; Child; HLA-DQ Antigens; Humans; IgA Deficiency; Intestine, Small; Serologic Tests
PubMed: 30711209
DOI: 10.1016/j.gtc.2018.09.001 -
Science Immunology May 2023The ability of most patients with selective immunoglobulin A (IgA) deficiency (SIgAD) to remain apparently healthy has been a persistent clinical conundrum. Compensatory...
The ability of most patients with selective immunoglobulin A (IgA) deficiency (SIgAD) to remain apparently healthy has been a persistent clinical conundrum. Compensatory mechanisms, including IgM, have been proposed, yet it remains unclear how secretory IgA and IgM work together in the mucosal system and, on a larger scale, whether the systemic and mucosal anti-commensal responses are redundant or have unique features. To address this gap in knowledge, we developed an integrated host-commensal approach combining microbial flow cytometry and metagenomic sequencing (mFLOW-Seq) to comprehensively define which microbes induce mucosal and systemic antibodies. We coupled this approach with high-dimensional immune profiling to study a cohort of pediatric patients with SIgAD and household control siblings. We found that mucosal and systemic antibody networks cooperate to maintain homeostasis by targeting a common subset of commensal microbes. In IgA-deficiency, we find increased translocation of specific bacterial taxa associated with elevated levels of systemic IgG targeting fecal microbiota. Associated features of immune system dysregulation in IgA-deficient mice and humans included elevated levels of inflammatory cytokines, enhanced follicular CD4 T helper cell frequency and activation, and an altered CD8 T cell activation state. Although SIgAD is clinically defined by the absence of serum IgA, the symptomatology and immune dysregulation were concentrated in the SIgAD participants who were also fecal IgA deficient. These findings reveal that mucosal IgA deficiency leads to aberrant systemic exposures and immune responses to commensal microbes, which increase the likelihood of humoral and cellular immune dysregulation and symptomatic disease in patients with IgA deficiency.
Topics: Humans; Child; Mice; Animals; IgA Deficiency; Immunoglobulin A, Secretory; Immunoglobulin M; Homeostasis
PubMed: 37235682
DOI: 10.1126/sciimmunol.ade2335 -
Allergologia Et Immunopathologia 2020CD40 ligand deficiency (CD40L), currently classified as an inborn error of immunity affecting cellular and humoral immunity, prevalently emerges in boys within the first... (Review)
Review
CD40 ligand deficiency (CD40L), currently classified as an inborn error of immunity affecting cellular and humoral immunity, prevalently emerges in boys within the first two years of life. It manifests itself as a decrease in serum IgG, IgA and IgE, with normal or high IgM, defects in T cell proliferation, and decrease in soluble CD40L. These accompany sinopulmonary and/or gastrointestinal infections, and there may be infections caused by pyogenic bacteria, opportunistic infections, autoimmune diseases, and neoplasms. Mild and moderate cases of this deficiency may respond well to prophylactic antibiotic therapy or to human immunoglobulin replacement therapy, in addition to the early treatment of infections. Severe cases can be treated with hematopoietic stem cell transplantation, which allows the healing of such patients, rather than sequelae and a poor progression. Thus, its differential diagnosis with other inborn errors of immunity is essential, especially CD40 deficiency and variable common immunodeficiency; the reason why we have proposed the present literature review.
Topics: CD40 Ligand; Humans; Hyper-IgM Immunodeficiency Syndrome, Type 1; Male
PubMed: 31831191
DOI: 10.1016/j.aller.2019.08.005 -
Journal of Gastrointestinal and Liver... Dec 2023Celiac disease is a common gastroenterological illness. Current diagnostics of the disease are based on serological markers and histology of duodenal biopsies. Hitherto,... (Review)
Review
Celiac disease is a common gastroenterological illness. Current diagnostics of the disease are based on serological markers and histology of duodenal biopsies. Hitherto, a strict gluten-free diet is the only effective treatment and is necessary for good control of the disease. Serological tests in current use have very high specificity and sensitivity for diagnostics, but in follow-up they have some limitations. Their levels do not accurately reflect mucosal healing, and they are unable to detect minimal transgressions in the diet. This problem is significant in patients with IgA deficiency, and there exist no robust follow-up tools for monitoring these patients' adherence to treatment. For their follow-up, we currently use IgG-based tests, and these antibodies persist for a long time even when a patient has stopped consuming gluten. More accurate and specific biomarkers are definitely needed. Adherence to a gluten-free diet is essential not only for intestinal mucosa healing and alleviation of symptoms but also for preventing complications associated with celiac disease. Here, we summarize current evidence regarding noninvasive biomarkers potentially useful for follow-up not only of patients with IgA deficiency but for all patients with celiac disease. We describe several very promising biomarkers with potential to be part of clinical practice in the near future.
Topics: Humans; Celiac Disease; Follow-Up Studies; IgA Deficiency; Glutens; Diet, Gluten-Free; Biomarkers; Immunoglobulin A
PubMed: 38147608
DOI: 10.15403/jgld-4926 -
Archivum Immunologiae Et Therapiae... Feb 2017Anaphylactic reactions are a known complication in some IgA-deficient patients receiving blood or plasma transfusions. It is of particular interest that anaphylaxis has... (Review)
Review
Anaphylactic reactions are a known complication in some IgA-deficient patients receiving blood or plasma transfusions. It is of particular interest that anaphylaxis has been observed in patients with common variable immunodeficiency (CVID) who are receiving intravenous gammaglobulin (IVIG), and in that, although these patients have an impaired response to common vaccines, they retain the ability to produce autoantibodies. In this study, we review IgA antibodies (both IgG- and IgE-mediated reactions) in patients with CVID and hypogammaglobulinemia, anaphylaxis in antibody immunodeficient patients receiving IVIG, and proposed mechanisms of desensitization and prevention of anaphylactic reactions in immunodeficient patients receiving IVIG. We summarize and assess the 23 case reports documented in the literature that have described anaphylactic reactions in immunodeficient patients receiving IVIG since 1962 until currently, and make a comparison of their immunoglobulin levels, IgG anti-IgA, IgE anti-IgA, concentration of IVIG, IgA content in IVIG, method used to detect antibodies, length of treatment, and any subsequent tolerated treatment documented.
Topics: Agammaglobulinemia; Anaphylaxis; Antibodies, Anti-Idiotypic; Autoantibodies; Female; Humans; IgA Deficiency; Immunoglobulin E; Immunoglobulin G; Immunoglobulins, Intravenous; Immunologic Deficiency Syndromes; Male; Treatment Outcome
PubMed: 27412077
DOI: 10.1007/s00005-016-0410-1 -
La Revue de Medecine Interne Nov 2021Selective IgA deficiency (SIgAD) is defined by the European Society for Immunodeficiencies (ESID) as a serum IgA of less than 0.07g/L in patients greater than 4 years...
Selective IgA deficiency (SIgAD) is defined by the European Society for Immunodeficiencies (ESID) as a serum IgA of less than 0.07g/L in patients greater than 4 years old with normal levels of IgG and IgM, normal vaccine responses, and with the exclusion of secondary causes of hypogammaglobulinemia. When serum IgA level is higher than 0.07g/L but two standard deviations below normal for age, the condition may be referred to as partial IgA deficiency, which is quite common. SIgAD is the most common primary immunodeficiency in Europe (1/600 in France) and most patients with SIgAD are asymptomatic (75-90%). The clinical complications associated with SIgAD include recurrent respiratory infections (in particular involving Haemophilus influenza and Streptococcus pneumoniae) and gastrointestinal (mainly due to Giardialamblia), autoimmune and allergic manifestations (anaphylaxis if blood products with IgA are administrated), inflammatory gastrointestinal disease. There is no specific treatment for SIgAD and each patient must be managed individually. While asymptomatic subjects do not need any treatment, it is still necessary for them to be up-to-date with vaccinations. If the patient experiences recurrent infections, prophylactic antibiotics may be beneficial. Immunoglobulin replacement therapy should be considered in patients with SIgAD and concomitant IgG subclass deficiency. Treatment for autoimmune and allergic manifestations is based on current standards of care for specific disease entities. To improve quality of life and reduce morbidity, an interdisciplinary team approach is essential.
Topics: Child, Preschool; Europe; France; Humans; IgA Deficiency; Quality of Life
PubMed: 34364731
DOI: 10.1016/j.revmed.2021.07.008