Manish Butte

Hypocomplementaemic urticarial vasculitis syndrome presenting as unilateral dacryoadenitis.

Clin Exp Ophthalmol. 2019 Nov;47(8):1097-1101

Authors: Liong RW, Salonga-Reyes A, Morris S

PMID: 31373156 [PubMed – indexed for MEDLINE]

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Postoperative chylothorax review.

Rozhl Chir. 2020;99(10):427-437

Authors: Szkorupa M

Abstract
The spectrum of causes of chylothorax is wide, including an injury to the thoracic duct in various thoracosurgical procedures, especially in esopha-geal, lung and heart surgery. Late diagnosis or inadequate treatment of chylothorax still has a high rate of morbidity and mortality. This is mainly related to high losses of chyle which is rich in minerals, plasma proteins, fats and lymphocytes. The most serious effects are mineral breakdown, malnutrition and immunodeficiency. Early diagnosis and adequate therapy are essential. The strategy is based on the type of primary operation, the volume of chyle secretion and its duration. The authors present an overview of the issue of chylothorax from its etiology of origin to its anatomy, physiology, pathophysiology, symptomatology, diagnosis and therapy.

PMID: 33242960 [PubMed – in process]

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Higher Incidence of B Cell Malignancies in Primary Immunodeficiencies: A Combination of Intrinsic Genomic Instability and Exocytosis Defects at the Immunological Synapse.

Front Immunol. 2020;11:581119

Authors: Mastio J, Saeed MB, Wurzer H, Krecke M, Westerberg LS, Thomas C

Abstract
Congenital defects of the immune system called primary immunodeficiency disorders (PID) describe a group of diseases characterized by a decrease, an absence, or a malfunction of at least one part of the immune system. As a result, PID patients are more prone to develop life-threatening complications, including cancer. PID currently include over 400 different disorders, however, the variety of PID-related cancers is narrow. We discuss here reasons for this clinical phenotype. Namely, PID can lead to cell intrinsic failure to control cell transformation, failure to activate tumor surveillance by cytotoxic cells or both. As the most frequent tumors seen among PID patients stem from faulty lymphocyte development leading to leukemia and lymphoma, we focus on the extensive genomic alterations needed to create the vast diversity of B and T lymphocytes with potential to recognize any pathogen and why defects in these processes lead to malignancies in the immunodeficient environment of PID patients. In the second part of the review, we discuss PID affecting tumor surveillance and especially membrane trafficking defects caused by altered exocytosis and regulation of the actin cytoskeleton. As an impairment of these membrane trafficking pathways often results in dysfunctional effector immune cells, tumor cell immune evasion is elevated in PID. By considering new anti-cancer treatment concepts, such as transfer of genetically engineered immune cells, restoration of anti-tumor immunity in PID patients could be an approach to complement standard therapies.

PMID: 33240268 [PubMed – in process]

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Primary cutaneous diffuse large B-cell lymphoma, leg type, in a patient with rheumatoid arthritis undergoing etanercept therapy.

Mod Rheumatol Case Rep. 2020 Nov 26;:1-10

Authors: Akihito F, Nagamachi Y, Yamauchi N

Abstract
An 84-year-old woman, who was diagnosed with rheumatoid arthritis (RA) and was treated with methotrexate and, subsequently, etanercept (ETN) for 6 years, presented with rapidly progressing painful cutaneous mass on the right medial malleolus. The patient was eventually diagnosed with primary cutaneous diffuse large B-cell lymphoma, leg type (PCLBCL-LT). ETN therapy was promptly discontinued expecting spontaneous regression of the lymphoma, which was thought to have developed as other iatrogenic immunodeficiency-associated lymphoproliferative disorders. However, no tumor regression was noted. Chemoimmunotherapy was subsequently initiated, which resulted in partial remission. PCLBCL-LT rarely occurs in patients with RA. Here, we report the first case of PCLBCL-LT that developed in a patient with RA receiving ETN therapy.

PMID: 33238812 [PubMed – as supplied by publisher]

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Immunological deficiencies: more frequent than they seem to be.

J Pediatr (Rio J). 2020 Nov 22;:

Authors: Barreto ICDP, Barreto BAP, Cavalcante EGDN, Condino Neto A

Abstract
OBJECTIVE: A review article was carried out, addressing the clinical and epidemiological characteristics of immune system deficiencies, which are associated with or predispose to recurrent infectious processes, autoimmune diseases, auto inflammatory diseases, or neoplasms, and which are classified as inborn errors of immunity (IEI) and secondary immunodeficiencies (SID). Emphasis was placed on the classification of the main signs and symptoms for each organ and system, which will serve as warning signs, to guide the pediatrician in the investigation of the main IEI. In addition, the main secondary changes in the immune system triggered by infections (with emphasis on COVID-19), drugs, chronic diseases, metabolic and nutritional disorders were identified.
SOURCES OF DATA: This review included articles published in the last five years and that were identified in the MEDLINE platform (PubMed).
SUMMARY OF FINDINGS: The recurrence of infectious processes, associated with the severity of the condition and/or unusual profile of the infectious agent, always related to the age range of symptom onset, are the most important findings for suspected diagnosis.
CONCLUSIONS: Considering this scenario, immunity disorders should be part of the investigation carried out by the general pediatrician, whether they are the innate errors of immunity (primary immunodeficiencies) or secondary immunodeficiencies, so that the diagnosis is attained as early as possible and therapeutic measures are implemented, reducing the morbidity and mortality of these patients.

PMID: 33238140 [PubMed – as supplied by publisher]

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Immunological basis of virus-host interaction in COVID-19.

Pediatr Allergy Immunol. 2020 Nov;31 Suppl 26:75-78

Authors: La Torre F, Leonardi L, Giardino G, Volpi S, Federici S, Soresina A, Cancrini C, Lougaris V, Castagnoli R, Corrente S, Cardinale F, Immunology Commission of the Italian Society of Pediatric Allergy, Immunology (SIAIP)

Abstract
COVID-19 is a complex new viral disease, in which a strict balance between anti-viral immune response and the ensuing organ inflammation has a critical role in determining the clinical course. In adults, compelling evidence exists indicating that an uncontrolled inflammatory response (“cytokine storm”) is pivotal in determining disease progression and mortality. Children may rarely present with severe disease. Modulating factors related to the host’s genetic factors, age-related susceptibility, and the capability to mount appropriate immune responses might play a role in control virus load at an early stage and regulating the inflammatory reaction. Elucidating these mechanisms seems crucial in developing target therapies according to patient’s age, immunologic status, and disease evolution in COVID-19.

PMID: 33236427 [PubMed – in process]

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Autoimmune diseases associated with common variable immune deficiency.

Pediatr Allergy Immunol. 2020 Nov;31 Suppl 26:60-62

Authors: Lenti MV, Savioli J, Achilli G, Di Sabatino A

Abstract
Common variable immunodeficiency (CVID) is the most prevalent primary immune deficiency, affecting roughly 2-4/100 000 individuals in the general population. The etiology is currently unknown, even if several genetic mutations have been described, and no single clinical feature or single laboratory test can establish the diagnosis, which is based on multiple criteria. CVID is characterized by B- and T-cell dysfunction that predisposes to an increased risk of infections, with the typical involvement of the respiratory and gastrointestinal tracts. Besides this well-established complication, though the coexistence of immunodeficiency and autoimmunity appears paradoxical, two-thirds of CVID patients present concomitant autoimmune disorders. Of note, autoimmunity can often be the only clinical manifestation of CVID at the time of diagnosis. The most common autoimmune disorders associated with CVID are autoimmune cytopenias, that is, immune thrombocytopenic purpura and autoimmune hemolytic anemia, either as separate entities or as concurrently (Evans syndrome). CVID patients can also manifest rheumatologic diseases (eg, arthritis, Sjogren’s disease, systemic lupus erythematosus, vasculitis, Behçet’s syndrome) and gastrointestinal autoimmune disorders (eg, ulcerative colitis, autoimmune atrophic gastritis, celiac disease). This latter may pose a particular diagnostic challenge, as celiac-specific autoantibodies can be absent in CVID patients. Understanding the molecular basis and the clinical impact of autoimmunity in CVID patients might help manage CVID, thus reducing its diagnostic delay and preventing its complications.

PMID: 33236426 [PubMed – in process]

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Updates on new monogenic inborn errors of immunity.

Pediatr Allergy Immunol. 2020 Nov;31 Suppl 26:57-59

Authors: Castagnoli R, Notarangelo LD

Abstract
Inborn errors of immunity (IEI), also referred to as primary immunodeficiencies (PID), are disorders that, for the most part, result from mutations in genes involved in immune host defense and immune regulation. Thanks to the increased availability of high-throughput DNA sequencing and the improvement in genomic data interpretation, the number of newly identified genes associated with IEI has exponentially increased over the last decade. We reviewed four recently described monogenic IEI and discussed the clinical and immunologic features of these new conditions.

PMID: 33236415 [PubMed – in process]

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