Immunodeficiency DIsorders Flashcards
disorders in which part of the body’s immune system is missing or dysfunctional
immunodeficiencies
primary immunodeficiency
inherited
secondary immunodeficiency
acquired
results in pyogenic infections (particularly, upper and lower respiratory tract, recurrent sinusitis and otitis media are common)
Defects in Humoral immunity
results in recurrent infections with intracellular pathogens (viruses, fungi, and intracellular bacteria)
Defects in T-cell mediated immunity
results in recurrent pyogenic infections or impaired wound healing
Defects in Neutrophil function
increased risk of overwhelming bacterial infection
Defects in macrophage function
results in recurrent bacterial infections and autoimmune-type manifestations
Defects in Complement system
Age-adjusted rates of malignancy in patients with immunodef dxs are?
10 to 200 times greater
most common congenital immunodeficiency
Selective IgA deficiency
Most are asymptomatic, but those with symptoms have infections in
respiratory and gastrointestinal tract
Selective IgA deficiency
in Selective IgA deficiency if the serum is lower than ? the deficiency is considered ?
5mg/dL, severe
in selective IgA deficiency, ? specifically directed against IgA are produced by 30% to 40% of patients with severe IgA deficiency
IgE
in selective IgA deficiency it can cause anaphylactic reaction when ? containing products are transfused
IgA
BTK stands for?
X-linked Bruton’s Tyrosine Kinase (Btk) Deficiency or Bruton agammaglobulinemia
Develop recurrent bacterial infections and Lack circulating mature CD19+ B cells and deficiency or lack of all Ig class
X-linked Bruton’s Tyrosine Kinase (Btk) Deficiency
BTK is differentiated from?
transient hypogammaglobulinemia of infancy by the absence of CD 19+ B cells
BTK is exclusively for? (males or females)
males
No mature B cells, but has pre-b cells on BM
X-linked Bruton’s Tyrosine Kinase (Btk) Deficiency
most serious of the congenital immunodeficiencies
Severe Combined Immunodeficiencies (SCID)
group of related diseases that affect all T- & B-cell function with differing causes
Severe Combined Immunodeficiencies (SCID)
in BTK a group of related diseases that affect all T- & B-cell function with differing causes. what is the most common cause?
mutation in IL2RG gene on X-chromosome
Normal signaling cannot occur in cells with defective receptors, halting natural maturation
X-linked Bruton’s Tyrosine Kinase (Btk) Deficiency
who is the boy in the bubble?
David Phillip Vetter
what did David Phillip Vetter experimented on?
Experimental bone marrow transplant from her sister cause his death
A X-linked recessive syndrome
Wiskott-Aldrich syndrome (WAS)
WAS is defined by a triad of?
immunodeficiency, eczema, thrombocytopenia
in WAS what is the primary molecular defect?
CD43
lethal in childhood because of infection, hemorrhage, or malignancy
Wiskott-Aldrich syndrome (WAS)
lab findings in WAS
decrease platelet count and size, prolonged bleeding time, absence of isohemagglutinins
developmental abnormality of the 3rd and 4th pharyngeal pouches that affects thymus development in embryo
Digeorge anomaly
The immunodeficiency associated with DiGeorge anomaly is a
qualitative defect in thymocyte
Most patients show a deletion in region q11 of chromosome 22, although this anomaly is not required for diagnosis
Digeorge anomaly
treatment for Digeorge anomaly
fetal thymus transplantation
Caused by mutation in LYST gene
Chediak-Higashi syndrome
Reduced number of NK cells and neutrophils, as well as an increased
production of inflammatory proteins; PBS shows granulocytic inclusions
Chediak-Higashi syndrome
impaired fusion of lysosomes with phagosomes
Chediak-Higashi syndrome
what is affected in Chediak-Higashi syndrome
lysosomes and melanosomes
what category is Chediak-Higashi syndrome
category 4 PID
what category is Chronic Granulomatous disease (CGD)
category 5 PID
X-linked or autosomal recessive syndrome that has Has recurrent suppurative infections
Chronic Granulomatous disease (CGD)
in CGD In normal individuals, activated neutrophils and mononuclear phagocytes kill organisms via the?
respiratory burst
Mutations in any of the four subunits of the enzyme that catalyzes the burst, namely, ? an result in CGD
nicotinamide adenine dinucleotide phosphate (NADPH) oxidase
diagnosed using Nitroblue Tetrazolium Test (NBT)
Chronic Granulomatous disease (CGD)
CGD is historically diagnosed using
Nitroblue Tetrazolium Test (NBT)
in CGD what will fluoresce when reduced neu are activated using PMA?
dihydrorhodamine (DHR)
in CGD dihydrorhodamine will fluoresce when reduced neu are activated using?
phorbol myristate acetate (PMA)
a mitogen for Neu Resulting in oxidative burst (as DHR will be reduced) measured by flow cyto
phorbol myristate acetate (PMA)
phorbol myristate acetate a mitogen for Neu Resulting in oxidative burst (as DHR will be reduced) measured by?
flow cytometry
the leukocytes phagocytize the microorganisms, initiating an increase in oxygen uptake. so, no dark crystals appear
nitroblue tetrazolium slide test (NBT)
Autosomal recessive disorder and has a deficiency in CD18 and on T cells
Leukocyte Adhesion Deficiency (LAD)
a component of adhesion receptors on neutrophils and monocytes (CD11b or CD11c)
CD18
diagnosed by detecting a decreased amount of the CD11/18 antigen on patient leukocytes by flow cytometry
Leukocyte Adhesion Deficiency (LAD)
recurrent bacterial infection without pus formation
LADI
always seen together (deficiency in CD15s or sialyl-Lewis X), immunodeficiency is milder
LADII and Bombay blood group
most common presenting symptom of some complement deficiencies
SLE
Deficiencies in the early complement components ? are usually associated with a lupuslike syndrome
C1q, C4 and C2
Deficiencies of the later components of complement ? are often associated with recurrent Neisseria meningitidis infections
C5-C9
Deficiencies in the early complement components C1q, C4 and C2 are usually associated with a?
lupuslike syndrome
Deficiencies of the later components of complement C5-C9 are often associated with?
recurrent Neisseria meningitidis infections
