Immunodeficiencies and CVID

Question 1

features of CVID

Answer 1

recurrent infections (rhinosinusitis, pneumonia, conjucntivitis)
chronic lung disease (bronchiectasis)

Autoimmune disorders (vitiligo, rheumatoid arthritis, and thyroid disorders)

GI disorders (irritable bowel disease, malabsorption)

Granulomatous disease with lymphoid or solid organs

increased risk for malignancy (lymphoma gastric cancers)

Question 2

diagnosis of CVID (Must need all of these criteria)

Answer 2

extremely persistent low IgG levels
low IgA and/or IgM levels
No response to vaccinations
exclusion of other immunodeficiency disorders

Question 3

treatment of CVID

Answer 3

immunoglobulin replacement therapy

age appropriate cancer screening

monitor for lymphoma

Question 4

Most common immunodeficiency affecting children and young adults:

Answer 4

common variable immunodeficiency

this is due to impaired B cell differentiation and immunoglobulin IgG, IgA and IgM production

see decreased not abscent IgA and IgG levels and may see decreased IgM levels

B lymphocytes and plasma cells may not make these cells.

Question 5

when do most pts with CVID present?

Answer 5

before age of 20 with multiple infections (rhinosinusitis and pneumonia) and chronic lung disease.

Most will have hx of pneumonia related to Strep pneumo, Mycoplasma, and H influenza

Question 6

when should we look for CVID?

Answer 6

low immunoglobulin levels and poor response to vaccinations and exclusion of other disorders

Question 7

what does IV immunoglobulin therapy do for pts who have CVID?

Answer 7

it helps to decrease infections and hospitalizations and need for abx, and possible decreases the progression of chronic lung dx

Question 8

adult cystic fibrosis

Answer 8

milder form of dx that consists of mild respiratory infections, GI dx (recurrent pancreatitis, biliary cirrhosis and portal HTN) and abnormal reproductive function.

Will see long hx of pulm disease and GI symptoms and infertility issues

Question 9

myeloperoxidase deficiency will be

Answer 9

asymptomatic or present with recurrent candida infections (mucocutaneous meningeal osteomyelitis and sepsi)

Question 10

primary ciliary dyskinesia

Answer 10

see nasal polyposis, otitis, recurrent resp infections and situs inversis (50%) and infertility

Question 11

anergy is:

Answer 11

testing using a purified protein of different antigens: candida, tetanus and placed as an intraderma injection. If positive after 48-72 hrs should see induration (intact delayed type hypersensitivity

negative test means all antigens no type 4 immunity.

Question 12

CVID pts have anergy

Answer 12

true and will create a induration bump

something like X linked hypogammoglobulinemia will have no induration

Question 13

CVID pts also have higher incidence of also having:

Answer 13

RA, vitiligo, hemolytic anemia and thrombocytopenia and neutropenia and pyoderma ganrenosum

also increased risk for B cell lymphoma

Question 14

Omeen syndrome

Answer 14

autosomal recessive severe combined immunodeficiency wiht hypomorphic missense muttions

affects both B cells and T cells

Question 15

X linked hypogammoglobulinemia

Answer 15

history of recurrent URI in childhood

lack B cells and see low levels of ALL antibody classes (IgA, IgM, IgE, and IgD)

Question 16

diagnostic test for primary ciliary dyskinesia?

Answer 16

nasal ciliary brush or biopsy should be diagnostic.

Question 17

Job syndrome is also known as

Answer 17

hyper IgE syndrome and it’s a primary immunodeficiency disorder
can be autosomal dominant or recessive

Question 18

presentation of hyper IgE syndrome

Answer 18

see frequent staph aureus abscesses
recurrent pneumonia
increased serum IgE levels >2000 and eczema

presents within a few days of birth but cna present later

Question 19

what other infections are associated with hyper IgE syndrome?

Answer 19

see mucocutaneous candidasis,
connective tissue abnormalities
impaired deciduation of primary teeth

Question 20

Hyper IgM is associated with

Answer 20

recurrent infections with elevated IgM and low levels of IgA and IgG and IgE levels

low amounts and NOT the same thing as Waldenstrom Macroglubulinemia

Question 21

Netherton syndrome affects

Answer 21

skin, hair, immune system

see congential ichthyosiform erythroderma
trichorrhexis invaginata and atopy

Question 22

Omenn syndrome is seen with

Answer 22

chronic inflammation of the skin
see a red rash consistent with early onset erythroderma
trichorrhexis invaginata
atopy

see electrolyte disorders and food induced anaphylaxis
prolinuria

lacks of features.