Search results for "Hypogammaglobulinemia"
showing 6 items of 6 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…
Identification of a Unique Helicobacter Species by 16S rRNA Gene Analysis in an Abdominal Abscess from a Patient with X-Linked Hypogammaglobulinemia
2000
ABSTRACT A unique Helicobacter species, MZ640285, was isolated from a patient with X-linked hypogammaglobulinemia suffering from recurrent abdominal abscesses and was identified by 16S rRNA gene sequence analysis. In the phylogenetic tree, the isolate fell into a cluster which included Flexispira rappini , Helicobacter bilis , and Helicobacter sp. strain Mainz. Helicobacters are being increasingly recognized as pathogens in immunocompromised hosts. These fastidious bacteria are not easily cultured in the routine diagnostic laboratory, and this is the first report of their identification by 16S rRNA gene sequencing performed directly from a clinical specimen.
Management of patients with chronic lymphocytic leukemia during the SARS‑CoV‑2 pandemic (Review)
2021
Oncohematological patients are prone to develop infections due to immunosuppression caused by the disease and chemo-immunotherapy. The aim of this review was to outline the details of the management of patients with chronic lymphocytic leukemia (CLL) during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. Patients with CLL often exhibit inadequate humoral and cellular immune responses to various infections and vaccinations. Patients under the ‘watch and wait’ strategy have a lower risk of infections, including with SARS-CoV-2, compared with those undergoing therapeutic interventions, but they still have a higher risk than age-matched controls. Patients with CLL hav…
Impact of rare diseases in oral health
2016
Background Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade. Material and Methods Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with “oral health”. The variables studied included dental, oral mucosa and occlusion alterations, oral pathologies (caries, periodontal disea…
Should mild hypogammaglobulinemia be managed as severe hypogammaglobulinemia? A study of 389 patients with secondary hypogammaglobulinemia.
2014
Although secondary hypogammaglobulinemia is more frequent than primary hypogammaglobulinemia, its etiology and management are poorly described, particularly for mild hypogammaglobulinemia.This retrospective observational study included all adult patients with a gammaglobulin level6.4g/L on serum electrophoresis identified at Dijon teaching hospital between April and September 2012. Clinico-biological features, etiologies and infectious complications were collected at inclusion and compared between group 1 (gammaglobulin5g/L, severe hypogammaglobulinemia), and group 2 (gammaglobulin6.4 and ≥5g/L, mild hypogammaglobulinemia).Among the 4011 serum electrophoreses, 570 samples from 389 patients …
Papel del médico de familia en el diagnóstico concomitante de mieloma y amiloidosis primaria en una misma paciente. Caso clínico
2018
Multiple Myeloma is a myeloproliferative disorder of plasma cells, which may be complicated with secondary amyloidosis. We report a 48 year old woman consulting to primary care for weight loss and malaise. An initial laboratory study revealed a hypogammaglobulinemia with a monoclonal component and lambda light chains. These results motivated her derivation to hematology: her serum calcium was 11.8 mg/dl, immunofluorescence showed a monoclonal component of lambda chains and urine Bence-Jones protein was positive. A bone marrow biopsy confirmed plasma cell infiltration. A Congo-red stain of a rectal biopsy was positive. The patient was treated with thalidomide, bortezomid and dexamethasone.