IgA deficiency is one of the most common genetic
immunodeficiency disorders in humans and is associated with an insufficiency or complete absence of the antibody IgA.
WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a rare congenital hematological
immunodeficiency disorder in which mature neutrophils fail to reach blood circulation from bone marrow.
Not exact matches
Similarly, my interest
in primary
immunodeficiency disorders led me to read papers from outside my field, including papers on HIV / AIDS, which causes similar symptoms.
Gene mutations involved
in enamel mineralization through the CRAC channels were first seen
in people with a type of severe combined
immunodeficiency, a
disorder in which — among other symptoms — tooth enamel may fall off the teeth within five or six years after birth, and the dentine becomes exposed.
Notably, research groups might be able to apply the approach described
in this study to develop treatments for other blood diseases such as β - thalassemia, severe combined
immunodeficiency (SCID), chronic granulomatous disease, rare
disorders like Wiskott - Aldrich syndrome and Fanconi anemia, and even HIV infection.
Researchers have harnessed the CRISPR - Cas9 technology to correct mutations
in the blood stem cells of patients with a rare
immunodeficiency disorder; the engineered cells successfully engrafted
in mice for up to five months.
«This study found that patients with primary
immunodeficiency disorders have a modest increase
in overall cancer incidence.
Fischer,
in 2000, reported demonstrating the clinical efficacy of gene therapy for the first time, using blood stem cells to treat a fatal genetic
disorder called X-linked severe combined
immunodeficiency.
He hopes that Cas9 - based therapies for T cell - related
disorders, which include autoimmune diseases as well as
immunodeficiencies such as «bubble boy disease,» will enter the clinic
in the future.
Severe combined
immunodeficiency — X1 (SCID - X1) is an X-linked inherited
disorder characterized by an early block
in T and natural killer (NK) lymphocyte differentiation.
At present, the problem of
immunodeficiency disorders are extremely important
in developed and developing countries.
St. Jude has played a key role
in vector development, pioneering innovative vector designs for patients with hemophilia and the devastating immune
disorder X-linked severe combined
immunodeficiency (SCID).
• Patients must have adequate coagulation (international normalized ratio (INR) or prothrombin time (PT), partial thromboplastin time (PTT) ≤ 1.5 times ULN) • Adequate liver function (total bilirubin ≤ 1.5 times the ULN, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) ≤ 2.5 times ULN Exclusion Criteria: • Presence of active / uncontrolled central nervous system involvement • History of clinically significant cardiac disease; uncontrolled hypertension • Left ventricular ejection fraction (LVEF) < 45 % • Allogeneic stem cell transplant within 100 days before first dose of study drug • Known history of human
immunodeficiency virus (HIV) infection • Chronic or active hepatitis B or C, requiring antiviral therapy • Evidence of history of bleeding
disorder, dialysis, or coexisting cancer that is distinct
in primary site or histology from the cancer evaluated
in this study • Serious, uncontrolled infection • Unresolved chronic toxicity > grade 1 from prior therapy • Use of strong CYP3A4 inhibitors or strong inducers within 7 days prior to the start of study treatment and for the duration of the study
Immunodeficiency disorders result
in partial or full impairment of the immune system, leaving the patient unable to effectively resolve infections or disease.
Her main area of research is
in CVID (common variable
immunodeficiency) and antibody deficiency which resulted
in better understanding of this rare group of
disorders.
In a person with an immunodeficiency disorder, one or more components of either the adaptive or innate immune response is impaired, resulting in the body being unable to effectively resolve infections or diseas
In a person with an
immunodeficiency disorder, one or more components of either the adaptive or innate immune response is impaired, resulting
in the body being unable to effectively resolve infections or diseas
in the body being unable to effectively resolve infections or disease.
Primary
immunodeficiency (PID)-- inherited immune
disorders resulting from genetic mutations, usually present at birth and diagnosed
in childhood.
She joined the Pillai lab as a post-doctoral research fellow
in 2016 and continues to enjoy her work both treating patients with primary
immunodeficiency in the clinic and studying the bridging gap between human primary
immunodeficiency disorders and the development of autoimmune disease pathology
in the lab.
Her research focused on
immunodeficiencies arising
in short telomere syndromes, the most common group of premature aging
disorders.
The company's biopharmaceutical research and development efforts
in the affective (psychiatric)
disorders, Alzheimer's / dementia, cardiovascular, diabetes, hepatitis, HIV / Acquired
Immunodeficiency Syndrome (AIDS), oncology, immunologic
disorders and fibrotic disease areas.
The breed suffers greatly from allergies,
immunodeficiency, and a number of autoimmune
disorders, which may be a reflection of loss of balanced selection and heterozygote advantage
in the DLA region.
Concentrating on the brachycephalic syndrome also ignores other serious problems
in the breed, such as inability to breed and deliver normally, poor mothering, high puppy mortality, the accumulation of simple recessive deleterious traits, a number of orthopedic problems, certain cancers, allergies,
immunodeficiency, and autoimmune
disorders.
ACT - activated clotting time (bleeding
disorders) ACTH - adrenocorticotropic hormone (adrenal gland function) Ag - antigen test for proteins specific to a disease causing organism or virus Alb - albumin (liver, kidney and intestinal
disorders) Alk - Phos, ALP alkaline phosphatase (liver and adrenal
disorders) Allergy Testing intradermal or blood antibody test for allergen hypersensitivity ALT - alanine aminotransferase (liver
disorder) Amyl - amylase enzyme — non specific (pancreatitis) ANA - antinuclear antibody (systemic lupus erythematosus) Anaplasmosis Anaplasma spp. (tick - borne rickettsial disease) APTT - activated partial thromboplastin time (blood clotting ability) AST - aspartate aminotransferase (muscle and liver
disorders) Band band cell — type of white blood cell Baso basophil — type of white blood cell Bile Acids digestive acids produced
in the liver and stored
in the gall bladder (liver function) Bili bilirubin (bile pigment responsible for jaundice from liver disease or RBC destruction) BP - blood pressure measurement BUN - blood urea nitrogen (kidney and liver function) Bx biopsy C & S aerobic / anaerobic bacterial culture and antibiotic sensitivity test (infection, drug selection) Ca +2 calcium ion — unbound calcium (parathyroid gland function) CBC - complete blood count (all circulating cells) Chol cholesterol (liver, thyroid
disorders) CK, CPK creatine [phospho] kinase (muscle disease, heart disease) Cl - chloride ion — unbound chloride (hydration, blood pH) CO2 - carbon dioxide (blood pH) Contrast Radiograph x-ray image using injected radiopaque contrast media Cortisol hormone produced by the adrenal glands (adrenal gland function) Coomb's anti- red blood cell antibody test (immune - mediated hemolytic anemia) Crea creatinine (kidney function) CRT - capillary refill time (blood pressure, tissue perfusion) DTM - dermatophyte test medium (ringworm — dermatophytosis) EEG - electroencephalogram (brain function, epilepsy) Ehrlichia Ehrlichia spp. (tick - borne rickettsial disease) EKG, ECG - electrok [c] ardiogram (electrical heart activity, heart arryhthmia) Eos eosinophil — type of white blood cell Fecal, flotation, direct intestinal parasite exam FeLV Feline Leukemia Virus test FIA Feline Infectious Anemia: aka Feline Hemotrophic Mycoplasma, Haemobartonella felis test FIV Feline
Immunodeficiency Virus test Fluorescein Stain fluorescein stain uptake of cornea (corneal ulceration) fT4, fT4ed, freeT4ed thyroxine hormone unbound by protein measured by equilibrium dialysis (thyroid function) GGT gamma - glutamyltranferase (liver
disorders) Glob globulin (liver, immune system) Glu blood or urine glucose (diabetes mellitus) Gran granulocytes — subgroup of white blood cells Hb, Hgb hemoglobin — iron rich protein bound to red blood cells that carries oxygen (anemia, red cell mass) HCO3 - bicarbonate ion (blood pH) HCT, PCV, MHCT hematocrit, packed - cell volume, microhematocrit (hemoconcentration, dehydration, anemia) K + potassium ion — unbound potassium (kidney
disorders, adrenal gland
disorders) Lipa lipase enzyme — non specific (pancreatitis) LYME Borrelia spp. (tick - borne rickettsial disease) Lymph lymphocyte — type of white blood cell MCHC mean corpuscular hemoglobin concentration (anemia, iron deficiency) MCV mean corpuscular volume — average red cell size (anemia, iron deficiency) Mg +2 magnesium ion — unbound magnesium (diabetes, parathyroid function, malnutrition) MHCT, HCT, PCV microhematocrit, hematocrit, packed - cell volume (hemoconcentration, dehydration, anemia) MIC minimum inhibitory concentration — part of the C&S that determines antimicrobial selection Mono monocyte — type of white blood cell MRI magnetic resonance imaging (advanced tissue imaging) Na + sodium ion — unbound sodium (dehydration, adrenal gland disease) nRBC nucleated red blood cell — immature red blood cell (bone marrow damage, lead toxicity) PCV, HCT, MHCT packed - cell volume, hematocrit, microhematocrit (hemoconcentration, dehydration, anemia) PE physical examination pH urine pH (urinary tract infection, urolithiasis) Phos phosphorus (kidney
disorders, ketoacidosis, parathyroid function) PLI pancreatic lipase immunoreactivity (pancreatitis) PLT platelet — cells involved
in clotting (bleeding
disorders) PT prothrombin time (bleeding
disorders) PTH parathyroid hormone, parathormone (parathyroid function) Radiograph x-ray image RBC red blood cell count (anemia) REL Rocky Mountain Spotted Fever / Ehrlichia / Lyme combination test Retic reticulocyte — immature red blood cell (regenerative vs. non-regenerative anemia) RMSF Rocky Mountain Spotted Fever SAP serum alkaline phosphatase (liver
disorders) Schirmer Tear Test tear production test (keratoconjunctivitis sicca — dry eye,) Seg segmented neutrophil — type of white blood cell USG Urine specific gravity (urine concentration, kidney function) spec cPL specific canine pancreatic lipase (pancreatitis)-- replaces the PLI test spec fPL specific feline pancreatic lipase (pancreatitis)-- replaces the PLI test T4 thyroxine hormone — total (thyroid gland function) TLI trypsin - like immunoreactivity (exocrine pancreatic insufficiency) TP total protein (hydration, liver
disorders) TPR temperature / pulse / respirations (physical exam vital signs) Trig triglycerides (fat metabolism, liver
disorders) TSH thyroid stimulating hormone (thyroid gland function) UA urinalysis (kidney function, urinary tract infection, diabetes) Urine Cortisol - Crea Ratio urine cortisol - creatine ratio (screening test for adrenal gland disease) Urine Protein - Crea Ratio urine protein - creatinine ratio (kidney
disorders) VWF VonWillebrands factor (bleeding
disorder) WBC white blood cell count (infection, inflammation, bone marrow suppression)
As they age, they may become suicidal, addicted to alcohol or other drugs, enmeshed
in violent relationships, and unable to care for their children.64, 76 Delinquent females also engage
in sexual activity at an earlier age than nonoffenders, placing them at greater risk for unwanted pregnancy and human
immunodeficiency virus.78 Understanding psychiatric morbidity and associated risk factors among delinquent females could help us to improve treatment and reduce the cycle of
disorder and dysfunction.