better questions on immunodeficiencies Flashcards
innate deficiency that causes severe recurrent bacterial infections
-Brittney spaniels
C3 deficiency
most severe of the complement deficiencies
C3
innate deficiency characterized by excess complement activation that leads to increased inflammation
- increased C3/C5 convertase activity
- Yorkshire pigs
Factor H deficiency
innate deficiency caused by a defect in gene LYST (CHS1)
Chediak-Higashi Syndrome
innate deficiency characterized by albinism, granules, increased infections
Chediak-Higashi Syndrome
gene that regulates intracellular protein trafficking of lysosomes and secretory granules
A mutation of this gene interferes w/ the synthesis and function of granules
LYST -Chediak-Higashi
a mutation in this gene causes a failure of the granulocyte nuclei to segment into lobes = nuclear hyposegmentation
LBR (lamin B protein)
- as seen in Pelger-Huet Anomaly
this innate deficiency can be mistaken for infection or early stage lymphoma and is characterized by granulocytes appearing as immature (band) cells
Pelger-Huet Anomaly (PHA)
mutation in this gene causes a failure of bone marrow to release neutrophils, results in severe neutropenia
VPS13B (Trapped Neutrophil Syndrome)
innate deficiency characterized by abnormally long head and legs, weakness, failure to thrive and recurrent bacterial infections
*Border Collies
Trapped Neutrophil Syndrome
a deficiency of CD18 (integrin Beta2 chain) results in what
impaired extravasation of WBCs, resulting in a high WBC count and recurrent bacterial infections
Leukocyte adhesion deficiencies (LADs) are a deficiency in what
CD18 (integrin B2 chain)
a mutation in this gene results in decreased enzyme activity, cyclic PNM counts and recurrent bacterial infections of the eyes, skin and respiratory tract
AP3B1 (cyclic neutropenia)
* gray collie syndrome
patients with ____ cell deficiencies are more susceptible to infections with some bacteria/parasites/viruses in which immunity is primarily antibody-mediated
B
this gene plays a role in regulating cellular responses to osmotic stress and is a a sodium/myo-inositol cotransporter
SLC5A3
(foal immunodeficiency syndrome)
B cell deficiency disease characterized by abnormally low levels of RBCs and B cells
As levels continue to drop, foal becomes more anemic and susceptible to recurrent infections
Foal Immunodeficiency Syndrome
a mutation in this gene causes an inability of pre-B cells to synthesize / express complete BCR, resulting in their apoptosis
Btk
(XLA)
Disease characterized by lack of B cells and Igs in serum, also recurrent bacterial infections commonly in respiratory and gI tract
XLA
Ig deficiency in which there is an inability of B cells to differentiate into IgA-secreting plasma cells, leading to recurrent infections on mucosal surfaces
Selective Ig deficiency
patients with _____ cell deficiencies are susceptible to viruses, intracellular microorganisms, and opportunistic pathogens
T
T/F: since T cells are often needed for appropriate Bcell/humoral response to antigens, patients w/ T cell deficiencies are usually also deficient in both CMI and humoral immune responses
T
gene involved in regulation of T cell maturation
FOXN1
disease characterized by reduced T cell production, resulting in increased susceptibility to opportunistic infections
also correlated to congenital hypotrichosis (no hair growth)
Thymic Aplasia
severe deficit in numbers/function of both B and T cell lymphocytes
severe combined immunodeficiencies
patients with ______ deficiency are highly susceptible to life-threatening, viral, bacterial and fungal infections early in life
SCID (severe combined immunodeficiencies)
A kinase involved in the VDJ recombination process of B and T cells
DNA-PK (DNA dependent protein kinase)
disease characterized by severe lymphopenia, lack of all serum Igs, and severe infections around 6-8weeks old
Mutation in DNA-PK (type of SCID)
enzyme involved in ligating the DNA breaks, a lack of this enzyme activity results in failure of B and T cell maturation
Mutation in DNA-PK (type of SCID)
disease is characterized by a poorly developed thymus, lacks of T cells, lack of serum IgG/IgA, severe infections begin around 6-8 weeks of age
Mutation in common gamma subunit of cytokine receptors
the common gamma subunit is composed of several ____ receptors, which are important in lymphocyte maturation and function
cytokine
a lack of the gamma subunit in cytokine receptors results in…
cytokine receptors being non-functional
condition where increased susceptibility to infection is due to impairment of T cell function
Malnutrition
causes elevation of endogenous glucocorticoids which results in immunosuppression
Stress
