Immunodeficiencies Flashcards
Primary immunodeficiency
congenital
Secondary immunodeficiency
acquired
What is X-linked agammaglobulinemia caused by
absence of mature B cells caused by mutation/deletions in B cell tyrosine kinase
What does an X-linked agammabloulinemia patient present as
male child ~3 years of age (has to be at least 6 months) with recurrent infections by pyogenic bacteria such as pneumonia, otitis media, meningitis, etc
Can you give X-linked agammabloulinemia patient’s vaccines?
no
X-linked agammaglobulinemia has absence of _____ B lymphocytes
circulating
What happens with B cells in common variable immunodeficiency
they can’t differentiate into plasma cells which decreases the amount of antibodies
What does a patient with variable immunodeficiency present as
male or female
increased susceptibility of recurrent bacterial infections
high incidence of autoimmune diseases
How do you treat variable immunodeficiency
monthly gamma globulin shots and antibiotic therapy
Selective IgA deficiency
very common in white people
asymptomatic, but some may have increased infections of mucosal sites
may have increased allergy, GI tract disease and/or autoimmune disease
Why does selective IgA defiency lack symptoms?
IgM compensates
Treatment for selective IgA deficiency
antibiotics (if needed)
no gamma globulin
absolutely CANNOT give them anything with IgA in it
X-linked hyper igM syndrome
inherited deficiency of CD40L on T cells, prevents isotype switching
Hyper IgM 2 syndrome
inherited mutation in the gene activation induced cytidine deaminase, prevents isotype switching
DiGeorge syndrome caused by
defective maturation of T cells, deficiency of T cells due to hypoplasia or agenesis of the thymus
What do patient’s with DiGeorge syndrome look like?
low set ears
fish mouth
lack of thymus
SCID can be caused by
most commonly due to deficiency of adenosine deaminase (ADA)
RAG1/RAG2 deficiency
X-linked, mutation in gene for common gamma chain
SCID patients have little or no _____ immunity
humoral or cell-mediated
How to treat SCID
bone marrow transplant
Chronic granulomatous disease caused by
defect in NADPH oxidase which prevents neutrophils from producing superoxide anion during respiratory burst
How to treat chronic granulomatous disease
bone marrow transplant
gene therapy
interferon-gamma therapy
Myeloperoxidase deficiency caused by
decreased or absent myeloperoxidase
Myeloperoxidase deficiency have increased susceptibility to what
infection and fungal infection (particularly candida yeast)
Chediak Higashi Syndrome caused by
neutrophils with large cytoplasmic granules due to fusing of lysosomes. this reduces ability to kill microbes
T cell and NK cell function impaired
What does a Chediak higashi syndrome patient present with
metallic silver hair vision impairment bleeding tendencies CNS problems hepatosplenomegaly lymphoreticular cancers
Treatment for chediak higashi syndrome
bone marrow transplant
Leukocyte adhesion deficiency is caused by
defect in beta chain of LFA-1 and Mac-1 adhesion molecules preventing neutrophils from adhering to endothelial cells during extravasation
What does a leukocyte adhesion deficiency patient present with
recurrent bacterial and fungal infections of skin, lungs, blood
wound healing problems
How to treat leukocyte adhesion deficiency
aggressive antibiotic treatment
granulocyte transfusion
bone marrow transplant
Triad of symptoms in wiskott-aldrich syndrome
immunodeficiency, eczema, thrombocytopenia
Genetic basis of wiskott-aldrich syndrome
defective cytosolic protein
means immune system cells can’t traffic to sites of inflammatino and B and T cells can’t interact properly
How to treat wiskott-aldrich syndrome
IV gamma globulin and antibiotics
bone marrow transplant
What does patient with wiskott-aldrich syndrome present with
near normal numbers of T and B cells that respond poorly to antigen
recurrent infections with pnuemococci, menigngococci, and hemophilus influenzae begin at 6 months
predisposition to develop severe autoimmune disease
male
