Search results for "primary immunodeficiency"
showing 7 items of 7 documents
Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations
2020
Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. METHODS: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. RESU…
Chronic Spontaneous Urticaria in Patients with Common Variable Immunodeficiency
2018
Common variable immunodeficiency (CVID) is a predominantly antibody deficiency and is one of the most common primary immunodeficiencies in adulthood. Replacement therapy with Ig has significantly reduced infectious complications; however, malignant, autoimmune, and inflammatory diseases are still current major causes of morbidity and mortality. In recent years, interest has increased regarding allergic manifestations that may be associated with primary immunodeficiencies; however, no data are currently available on chronic spontaneous urticaria (CSU). In this report, the authors describe CSU in patients with CVID attending their centre. Three CVID patients were affected by CSU and were unre…
Odontogenic deep neck space infection in a patient with hyper-IgE syndrome: A case report
2018
Hyperimmunoglobulin E syndrome is a primary immunodeficiency state that is characterized by eczema, recurrent skin and lung infections, and markedly increased levels of IgE. Odontogenic infection can spread to vital and deep structures in such immunocompromised patients. We report a case of a 19-year-old man with hyperimmunoglobulin E syndrome presenting deep neck space infection that had spread from periapical periodontitis of the lower molars. A computed tomography scan showed an area of bony destruction in the left mandible and abscess formation in the submandibular and submental spaces. The patient was successfully treated by cervical drainage, extraction of the causative teeth, and ant…
Magnesium in Infectious Diseases in Older People
2021
Reduced magnesium (Mg) intake is a frequent cause of deficiency with age together with reduced absorption, renal wasting, and polypharmacotherapy. Chronic Mg deficiency may result in increased oxidative stress and low-grade inflammation, which may be linked to several age-related diseases, including higher predisposition to infectious diseases. Mg might play a role in the immune response being a cofactor for immunoglobulin synthesis and other processes strictly associated with the function of T and B cells. Mg is necessary for the biosynthesis, transport, and activation of vitamin D, another key factor in the pathogenesis of infectious diseases. The regulation of cytosolic free Mg in immune…
Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …
2021
Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…
Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets
2020
Autosomal recessive mutations in genes required for cytotoxicity are causative of a life-threatening, early-onset hyperinflammatory syndrome termed familial hemophagocytic lymphohistiocytosis (FHL). Mutations in UNC13D cause FHL type 3. UNC13D encodes Munc13-4, a member of the Unc13 protein family which control SNARE complex formation and vesicle fusion. We have previously identified FHL3-associated mutations in the first intron of UNC13D which control transcription from an alternative transcriptional start site. Using isoform specific antibodies, we demonstrate that this alternative Munc13-4 isoform with a unique N-terminus is preferentially expressed in human lymphocytes and platelets, as…