doenças, sintomas e medicinises Flashcards
dificiência em AID
AID: activation inducted cytidine deaminase
Deficiência nesta enzima bloquia o acumular de hipermutações somáticas e o rearranjo de genes C.
Leva a síndrome hiper IgM (tipo2)
deficiência na expressão de CD40 ou CD40L
síndrome hiper IgM (tipo 3 e 1)
SCID
imunodeficiência combinada severa
Deficiência na cadeia gama comum de citocinas
afeta IL-2, Il-4, Il-7, IL-9, IL-15, IL,21
Não há sensibilização do organismos a estas citocinas
Leva a SCID
Sem IL-7 -> sem desenvolvimento T
sem IL-15 -> sem NK
Qual a função da TAP, e quais as consequências da sua deficiência ?
A TAP (Transporter associated with Antigen Processing) está associada à apresentação de antigénios por MHC de classe I, que afeta primariamente linfócitos T citotóxicos (CD8+).
TAP: entregam péptidos do citosol a moléculas de MHC I
Deficiência em TAP: não ocorre reconhecimento destas moléculas no timo aquando da seleção dos linfócitos T formados, que não maturam em células T CD8+
Não existem células T CD8+
Inflamação crõnica dos pulmões e da pele
Quais destas proteínas/genes quando deficientes afetam a população B?
a) RAG1
b) RAG2
c) ARTEMIS
d) DNA ligase IV
e) TAP
Entre estas opções, as proteínas/genes cujas deficiências afetam a população B (linfócitos B) são:
a) RAG1
b) RAG2
c) ARTEMIS
d) DNA ligase IV
Estas proteínas estão envolvidas no processo de recombinação V(D)J, essencial para a produção de imunoglobulinas funcionais nos linfócitos B.
Deficiências nestes genes/proteínas levam a falhas na maturação dos linfócitos B e T, causando imunodeficiências combinadas graves (SCID).
Qual a deficiência responsável pelo HAE (angioedema hereditário)?
O angioedema hereditário (HAE) é causado por uma deficiência ou disfunção do inibidor da C1 esterase (C1-INH), que é uma proteína reguladora do sistema complemento
Quais as consequências da inibição de Btk?
compremetimento da atividade de crescimento de células B
Qual o principal sintoma da hemoglobinúria paroxística noturna?
hemoglobinúria (presença de hemoglobina livre na urina), que geralmente se manifesta com uma urina de cor escura, especialmente pela manhã, devido à acumulação noturna.
O que provoca a hemoglobinúria paroxística noturna?
Ausência de Cd55(DAF) e de CD59
CD55 -> inibe a formação e aceleração da dissociação das convertases C3 e C5
CD59 -> inibe a formação do MAC
O que falha no desenvolvimento imunitário na dificiência em AIRE?
falha a seleção negativa
O que causa a ausência de B2-microglobulina?
Não se forma MHC classe I e não ocorre a maturação de c+elulas T CD8+
O que acontece como consequência da dificiência na cadeia comum das citocinas?
Não há sensibilização do organismo a essas citocinas e pode gerar-se SCID (imunodificiênica combinada)
Hyper IgM syndrome
Hyper-IgM syndrome is an immunoglobulin (Ig) deficiency characterized by normal or elevated serum IgM levels and decreased levels or absence of other serum immunoglobulins, resulting in susceptibility to bacterial infections. Diagnosis includes flow cytometry testing of CD40 ligand expression and genetic testing. Treatment is with immune globulin replacement and hematopoietic stem cell transplantation. Severe neutropenia can be treated with G-CSF.
HAE - hereditary angioedema [cause]
Hereditary angioedema (HAE) is caused by a low level or improper function of a protein called the C1 inhibitor.
HAE - hereditary angioedema [symptoms]
Symptoms include:
Airway blockage – involves throat swelling and sudden hoarseness
Repeat episodes of abdominal cramping without obvious cause
Swelling in the hands, arms, legs, lips, eyes, tongue, throat, or genitals
Swelling of the intestines – can be severe and lead to abdominal cramping, vomiting, dehydration, diarrhea, pain, and occasionally shock
A non-itchy, red rash
Paroxysmal Nocturnal Hemoglobinuria
[imunology]
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder that happens when part of your immune system attacks and damages your red blood cells and platelets.
Paroxysmal Nocturnal Hemoglobinuria
[symptoms]
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder named for a single symptom: Red/brown/dark urine noticed during late night or early morning trips to the bathroom. “Paroxysmal” means sudden; “nocturnal” means night; and “hemoglobinuria” refers to pee stained with blood. Your pee is dark because your immune system is breaking down your red blood cells. Healthcare providers call this hemolysis.
x linked agammaglobulinemia [imunology]
X-linked agammaglobulinemia or XLA is a primary immunodeficiency disorder that prevents affected individuals from making antibodies and requires them to rely on lifelong immunoglobulin replacement therapy for survival.X-linked agammaglobulinemia or XLA is a primary immunodeficiency disorder that prevents affected individuals from making antibodies and requires them to rely on lifelong immunoglobulin replacement therapy for survival. Without immunoglobulins (or antibodies), XLA patients are rendered vulnerable to invasive infections
Granuloma
aggregates of immune cells, primarily macrophages, which surround and attempt to contain an iffective agent or foreign substance
CGD - chronic granulomatous disease
is a hereditary disease where neutrophils are unable to destry ingested pathogen
síndrome de Di-george
A síndrome de DiGeorge é uma hipoplasia ou aplasia do timo e das paratireoides, causando principalmente imunodeficiência das células T e hipoparatireoidismo.
Leukocyte Adhesion Deficiency [imunology]
Leukocyte adhesion deficiency (LAD) is an immunodeficiency disorder involving both B and T cells and is characterized by an inability of leukocytes to migrate to the site of infection to kill offending microbes.
doença do enxerto contra hospedeiro
GvHD happens when particular types of white blood cell (T cells) in the donated stem cells or bone marrow attack your own body cells. This is because the donated cells (the graft) see your body cells (the host) as foreign and attack them.
Type 1 diabetes [immunology]
Type 1 diabetes (T1D) is a chronic T-cell mediated disease that leads to the destruction of the insulin-secreting islet β-cells (Figure 1) resulting in absolute insulin deficiency and hyperglycaemia.
Rheumatoid arthritis
Rheumatoid arthritis is an autoimmune disease. This means your immune system (which usually fights infection) attacks the cells that line your joints by mistake, making the joints swollen, stiff and painful.
Systemic Lupus Erythematosus (Lupus)
Systemic lupus erythematosus (lupus) is a chronic (long-lasting) autoimmune disease that can affect many parts of the body. Lupus occurs when the immune system, which normally helps protect the body from infection and disease, attacks its own tissues. This attack causes inflammation, and in some cases permanent tissue damage, which can be widespread – affecting the skin, joints, heart, lung, kidneys, circulating blood cells, and brain
celiac disease [immunology]
Celiac disease is an illness caused by an immune reaction to eating gluten. Gluten is a protein found in foods containing wheat, barley or rye.
If you have celiac disease, eating gluten triggers an immune response to the gluten protein in your small intestine. Over time, this reaction damages your small intestine’s lining and prevents it from absorbing nutrients, a condition called malabsorption.
The intestinal damage often causes symptoms such as diarrhea, fatigue, weight loss, bloating or anemia. It also can lead to serious complications if it is not managed or treated. In children, malabsorption can affect growth and development in addition to gastrointestinal symptoms.
There’s no definite cure for celiac disease. But for most people, following a strict gluten-free diet can help manage symptoms and help the intestines heal.
Arthus reaction
In immunology, the Arthus reaction (/ˌɑːrˈtjuːs/) is a type of local type III hypersensitivity reaction. Type III hypersensitivity reactions are immune complex-mediated, and involve the deposition of antigen/antibody complexes mainly in the vascular walls, serosa (pleura, pericardium, synovium), and glomeruli.
An Arthus reaction refers to an acute, localized inflammatory response that typically occurs after vaccination. It is classified as a type III hypersensitivity reaction, which is when antigen-antibody clusters, also known as immune complexes, are formed due to an abnormal immune system response. The reaction usually presents at the site of injection after a vaccination (e.g., tetanus-diphtheria booster). In some rare instances, an Arthus reaction may result from multiple, repeated insect bites.
sympthoms of arthus reaction
The signs and symptoms of Arthus reactions are typically mild and usually develop within 24 hours after the exposure to the triggering factor. Most individuals present with redness, swelling, and pain. It can also subsequently lead to induration (i.e., hardening of the area due to increased fibrous tissue) localized to the affected area. In more severe cases, the redness and swelling can spread throughout the extremities, and localized hemorrhages can be observed near the site of injection. Rarely, necrosis and ulcerations of the skin have been reported in very severe cases. The signs and symptoms may persist from a week to a few months, however, they typically leave no scars after healing.
