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Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that manifests as lung and/or liver disease. As symptoms of AATD overlap with those of common pulmonary and hepatic conditions, AATD is often misdiagnosed, which has resulted in substantial underdiagnosis of AATD worldwide. Although screening patients for AATD is recommended, the lack of procedures to facilitate testing remains a barrier to accurate diagnosis of AATD. Delays in AATD diagnosis can worsen outcomes for patients by postponing appropriate disease-modifying treatments.
Source: www.jaci-inpractice.orgCategories: Allergy-Immunology, Latest HeadlinesTweet
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Inherited defects in the Adenosine deaminase (ADA) gene typically cause severe combined immunodeficiency (SCID). In addition to infections, ADA-deficient patients can present with neurodevelopmental, behavioral, hearing, skeletal, lung, heart, skin, kidney, urogenital, and liver abnormalities. Some patients also suffer from autoimmunity and malignancies. In recent years, there have been…
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Mashup Score: 0Is your kid actin out? A series of six patients with inherited ARPC1B deficiency and review of the literature - 1 year(s) ago
Hereditary ARPC1B deficiency is characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy, asthma, skin vasculitis, colitis, arthritis, short stature, and lymphadenopathy.
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Mashup Score: 0Disseminated BCG disease with defective immune metabolism caused by protein kinase C-delta deficiency - 1 year(s) ago
Protein kinase C-delta encoded by gene PRKCD is a unique member of the protein kinase C family, expressed in all types of tissues, and functions as a key molecule in maintaining immune homeostasis.1 It plays regulatory roles in B-cell signaling, autoimmunity, growth, apoptosis, and differentiation of a variety of cell types.1-3 Since 2013, 17 patients from 10 families have been reported with…
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Mashup Score: 0Clinical outcomes, immunogenicity, and safety of BNT162b22 Vaccine in Primary Antibody Deficiency - 1 year(s) ago
Common variable immunodeficiency (CVID) is characterized by an impaired post-vaccination response, high susceptibility to respiratory tract infections, and a broad spectrum of non-infectious complications. Thus, patients with CVID may be at high risk of coronavirus disease (COVID-19), and vaccination’s role in prevention is questionable.
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Article InfoPublication HistoryAccepted: October 14, 2022Received in revised form: September 28, 2022Received: June 26, 2022Publication stageIn Press Journal Pre-ProofFootnotesThis research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. AZ received…
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Mashup Score: 1T-cell deficiency and hyperinflammatory monocyte responses associate with Mycobacterium avium complex lung disease - PubMed - 2 year(s) ago
Immunological mechanisms of susceptibility to nontuberculous mycobacterial (NTM) disease are poorly understood. To understand NTM pathogenesis, we evaluated innate and antigen-specific adaptive immune responses to Mycobacterium avium complex (MAC) in asymptomatic individuals with a previous h …
Source: PubMedCategories: Latest Headlines, PulmonologyTweet
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Mashup Score: 0Patient-Reported Pulmonary Symptoms, Exacerbations, and Management in a Cohort of Patients With Alpha-1 Antitrypsin Deficiency - PubMed - 2 year(s) ago
Changes in usual pulmonary symptoms are not universally recognized as exacerbations. Patients’ perspectives in recognizing changes in pulmonary symptoms as exacerbation events are critical.
Source: PubMedCategories: Latest Headlines, PulmonologyTweet
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Mashup Score: 1GATA2 deficiency associated with copy number variation: A reference for considering inborn errors of immunity - 2 year(s) ago
Deletions and duplications of chromosomal DNA fragments, alongside inversions and translocations, are collectively termed copy number variants (CNVs). A significant contribution to human genome variability can be attributed to CNVs, which are estimated to account for 4.8% to 9.7% of the human genome.1 Copy number variants have three potential implications: no phenotypic effect, an adaptive trait,…
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Mashup Score: 0Healing With Complication: An Unusual Case of Nasal Tip Ulceration in Leukocyte Adhesion Deficiency Type 1 - 2 year(s) ago
A 2-month-old girl presented with a necrotizing lesion over the tip of the nose that started as redness. The lesion subsequently increased in size to form a vesicle and ruptured to form a chronic, progressive, nonhealing ulcer without pus discharge (Figure 1, A). The girl was born at term, birth weight 2.5 kg. There was a history of delayed separation of the umbilical cord at day 22 of life. She…
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