Search
Now showing items 1-10 of 36
Recurrent Hemoptysis And A Mass In The Thorax In An Infant: The Split Notochord Syndrome
(2014)
Split notochord syndrome is a rare group of developmental abnormalities caused by abnormal splitting or deviation of the notochord clinically resulting in the duplicated bowel associated with vertebral anomalies. We report ...
IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
(Wiley, 2013)
IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12R1 is a receptor chain of ...
Isg15 Deficiency and Increased Viral Resistance in Humans but Not Mice
(2016)
ISG15 is an interferon (IFN)-α/β-induced ubiquitin-like protein. It exists as a free molecule, intracellularly and extracellularly, and conjugated to target proteins. Studies in mice have demonstrated a role for Isg15 in ...
Cvid Associated With Systemic Amyloidosis
(2015)
Common variable immunodeficiency (CVID) is a frequent primary immune deficiency (PID), which consists of a heterogeneous group of disorders and can present with recurrent infections, chronic diarrhea, autoimmunity, chronic ...
Advantage of the Subcutaneous Immunoglobulin Replacement Therapy in Primary Immunodeficient Patients With or Without Secondary Protein Loss
(Turkish J Pediatrics, 2018)
In recent years subcutaneous immunoglobulin is widely used for primary immunodeficient patients. Subcutaneous administration provides a more stable and higher serum immunoglobulin levels due to continuous and steady ...
Functional Analysis Of Naturally Occurring Dclre1C Mutations And Correlation With The Clinical Phenotype Of Artemis Deficiency
(Mosby-Elsevier, 2015)
Background: The endonuclease ARTEMIS, which is encoded by the DCLRE1C gene, is a component of the nonhomologous end-joining pathway and participates in hairpin opening during the V(D)J recombination process and repair of ...
Defective Pneumococcal Antibody Response In Patients With Recurrent Respiratory Tract Infections
(Turkish J Pediatrics, 2017)
Streptococcus pneumoniae is a common pathogen responsible for pulmonary infections and the leading cause of mortality and morbidity in patients with particularly B cell immunodeficiencies. Antibody production is the principal ...
Gross Deletions Involving Ighm, Btk, Or Artemis: A Model For Genomic Lesions Mediated By Transposable Elements
(Cell Press, 2008)
Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency ...
Human Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Due To Tnfrsf11A (Rank) Mutations
(Cell Press, 2008)
Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone diseases for which mutations in five genes are known as causative. Most ARO are classified as osteoclast-rich, but recently a subset of ...
Clinical And Genetic Features Of Il12R Beta 1 Deficiency: Single Center Experience Of 18 Patients
(Turkish J Pediatrics, 2016)
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by infections with weakly virulent mycobacteria (BCG and environmental mycobacteria), M. tuberculosis, Salmonella, candida and some other intracellular ...
