Immunodeficiency Diseases Flashcards
How many forms of Primary Immunodeficiency disorders have been discovered to date (as of 2022)?
A. 50
B. 100
C. 200
D. 300+
D. 300+
What is hypogammaglobulinemia?
1 - low levels of haemogloubulin
2 - low levels of glycogen
3 - lack of, or low levels of immunoglobulins
4 - lack of IgM antibodies
3 - lack of, or low levels of immunoglobulins
- hypo = low
- gammaglobulin = immunoglobulins
- emia = relates to blood
When a baby is born what is the main antibody that they are born with, or at highest levels?
1 - IgD
2 - IgM
3 - IgG
4 - IgA
3 - IgG
- this is maternal antibodies
When a baby is born what is the main antibody that they are born with are IgG antibodies, which is odd as normally B cells start mainly with IgM and sometimes IgD. Why are the concentrations of IgG so high in the first 6 months of a babies life?
- maternal antibodies from mother
- form of passive immunity
In healthy infants there is normally a period of relative antibody deficiency known as ‘transient hypogammaglobulinemia (low levels of antibodies) of infancy, which is a physiological state but can be correlated with increased infections, or present clinically after 3-6 months. When does this ‘transient hypogammaglobulinemianormally of infancy’occur?
1 - 1 month
2 - 12 weeks
3 - 6 months
4 - 12 months
3 - 6 months
Why do babies not get IgM from their mums?
1 - too large to cross the placenta
2 - not effective at fighting pathogens
3 - too small to make any difference
4 - mum cannot make IgM when pregnant
1 - too large to cross the placenta
- IgG also given in breast milk
What is immunodeficiency?
- the immune system’s ability to fight infectious diseases and cancer is compromised or entirely absent
What are primary immunodeficiencies?
- rare, often genetic disorders that impair the immune system
What are secondary immunodeficiencies?
- immune system is compromised due to an environmental factor or another disease
Are primary or secondary immunodeficiencies more common?
- secondary
- common in much older patients, associated with malignancies, diabetes, drugs and infections
A complement deficiency is when a patient has a deficiency in 1 or more of the complement molecules. What type of pathogen are patients with this type of deficiency most susceptible to?
1 - fungal
2 - viral
3 - bacteria
4 - parasites
3 - bacteria
- Neisseria which are encapsulated bacteria
- complement system opsonisises bacteria, without this APC cannot always bind
X-linked agammaglobulinemia (XLA) or Bruton’s disease is an antibody deficiency disease. What is this disease?
- a = without
- gammaglobulin = immunoglobulins
- emia = blood
- a lack of immunoglobulins in the blood caused by a genetic mutation on the X chromosome (mum donates this)
X-linked agammaglobulinemia (XLA) or Bruton’s disease is an antibody deficiency disease. There is a lack of immunoglobulins in the blood caused by a genetic mutation on the X chromosome (mum donates this). Specifically what is mutated?
1 - bruton tyrosine kinase
2 - bruton receptor
3 - granulocyte-macrophage colony-stimulating factor
4 - IL-2
- a = without
- gammaglobulin = immunoglobulins
- emia = blood
1 - bruton tyrosine kinase
- final step of creating functional antibodies (B cell receptors) on B cells
- B cells never mature and leave the bone marrow, so no immunoglobulins
X-linked agammaglobulinemia (XLA) or Bruton’s disease is an antibody deficiency disease. There is a lack of immunoglobulins in the blood caused by a genetic mutation on the X chromosome (mum donates this). Specifically the gene encoding bruton tyrosine kinase. This enzyme is important for the final step of creating functional antibodies (B cell receptors) on B cells. B cells never mature and leave the bone marrow, so no or very low levels of immunoglobulins. Which stage of B cell development do B cells stop at in this condition?
1 - lymphoid precursor cell
2 - pro B cell
3 - pre B cell
4 - immature B cell
- a = without
- gammaglobulin = immunoglobulins
- emia = blood
2 - pro B cell
3 - pre B cell
- stops in-between the change from pro and pre B cell
X-linked agammaglobulinemia (XLA) or Bruton’s disease is an antibody deficiency disease. There is a lack of immunoglobulins in the blood caused by a genetic mutation on the X chromosome (mum donates this). Specifically the gene encoding bruton tyrosine kinase, important for the final step of creating functional antibodies (B cell receptors) on B cells. Does this affect men or women more, and why?
1 - men and women as they both have X chromosome
2 - men only as women have a spare X chromosome so one can be faulty
3 - women only as they have 2 X chromosome so more likely to get disease
4 - men and women, but its just down to chance
2 - men only as women have a spare X chromosome so one can be faulty
- women are carriers as they have 2 X chromosomes, so if one is faulty the other takes over
- men just need to get the X chromosome and they have mutation
X-linked agammaglobulinemia (XLA) or Bruton’s disease is an antibody deficiency disease. There is a lack of immunoglobulins in the blood caused by a genetic mutation on the X chromosome (mum donates this). Specifically the gene encoding bruton tyrosine kinase, important for the final step of creating functional antibodies (B cell receptors) on B cells. This affects men only as women have a spare X chromosome so one can be faulty, but they can be carriers. What type of inheritance is this disease?
1 - X linked recessive
2 - Y linked recessive
3 - autosomal dominant
4 - X linked dominant
1 - X linked recessive
- one faulty gene needed in males to cause disease
X-linked agammaglobulinemia (XLA) or Bruton’s disease is an antibody deficiency disease. There is a lack of immunoglobulins in the blood caused by a genetic mutation on the X chromosome (mum donates this). Specifically the gene encoding bruton tyrosine kinase, important for the final step of creating functional antibodies (B cell receptors) as part of the B cells development in the bone marrow. When does this disease present?
1 - immediately at birth
2 - 6 weeks from birth
3 - >6 months from birth
4 - >6 years from birth
3 - >6 months from birth
- this is generally when the transient hypogammaglobulinemia of infancy occurs, as mums IgG antibodies begin to disappear
Hyper IgM syndrome is an antibody deficiency syndrome. Hyper IgM syndrome is the inability to switch classes between antibodies, resulting in the build up of just IgM, and this presents in the baby around 3-6 months. There are different subtypes of this syndrome, but the most common is a due to an issue in the CD40 ligand. Why is this important?
- with CD40 and CD40L ligand binding B cells can become active and/or class switch
- if CD40 on B cell doesn’t bind to CD40L on the T cell, the B cell will not activate or class switch
- patients are at high risk of pneumocystis jirovecii, a serious fungal infection
Di George Syndrome is classed as cell mediated immunodeficiency syndrome. What is Di George Syndrome?
1 - micro-deletion on chromosome 6
2 - micro-deletion on chromosome 22
3 - micro-deletion on chromosome 6
4 - micro-deletion on chromosome 22
2 - micro-deletion on chromosome 22
- genes involved in pharyngeal pouches are affected, so lots of development issues
- generally 3rd and 4th brachial arches are missing
Di George Syndrome is classed as cell mediated immunodeficiency syndrome. Di George Syndrome is a genetic deficiency where a small part of chromosome 22 is missing. Genes involved in pharyngeal pouches are affected, so lots of development issues and generally the 3rd and 4th brachial arches are missing. What are the 4 most common presentations?
1 - cleft palate, no parathyroid, cardiac abnormality, thymic aplasia
2 - no parathyroid, cardiac abnormality, thymic aplasia, enlarged thyroid
3 - cleft palate, enlarged parathyroid, cardiac abnormality, no thymus
4 - cleft palate, no thyroid gland, cardiac abnormality, thymic aplasia
1 - cleft palate, no parathyroid, cardiac abnormality, thymic aplasia
- no T cells or low T cells causing immunodeficiency
Di George Syndrome is classed as cell mediated immunodeficiency syndrome. Di George Syndrome is a genetic deficiency where a small part of chromosome 22 is missing. Genes involved in pharyngeal pouches are affected, so lots of development issues and generally the 3rd and 4th brachial arches are missing. Although there are a lot of symptoms, the most common are cleft palate, no parathyroid, cardiac abnormality, thymic aplasia. What cells are missing in these patients, which makes it a cell mediated immunodeficiency syndrome?
1 - complement pathway
2 - T cells
3 - macrophages
4 - B cells
2 - T cells
- patients have thymic aplasia, so very low or no T cells
What is terminal complement pathway deficiency?
- genetic condition affecting the complement system
- called terminal as its the end of the complement pathway that ss affected
- specifically complement molecules 5b, 6, 7, 8 and 9 could be affected.
- means no membrane attack complex (MAC)
Terminal complement pathway deficiency is a genetic condition affecting the complement system, specifically the terminal aspects, complement molecules 5b, 6, 7, 8 and 9 could be affected, so no membrane attack complex (MAC). Patients are otherwise immunologically normal. What infections are these patients most susceptible to and why?
1 - fungal
2 - viral
3 - bacteria
4 - parasites
3 - bacteria
- Neisseria which are encapsulated bacteria
- complement system opsonisises bacteria, without this APC cannot always bind to the pathogens
