Primary Immune Deficiencies

Question 1

most prominent type of primary immune deficiency

Answer 1

a majority of the cases are due to humoral defects with immunoglobulins and B cells

Question 2

common signs/symptoms of humoral deficiency

Answer 2

pyogenic infections with recurrent otitis media, sinusitis, pneumonia

frequent viral infections, chronic diarrhea

Question 3

too many infections in kids?

Answer 3

4 courses of antibiotics in a year

Question 4

too many infections in adults?

Answer 4

2 courses of antibiotics in a year

Question 5

too many ear infections after age 4?

Answer 5

4 in a year, less because physiology changing

Question 6

Agammaglobulinemia cause

Answer 6

defect in B cell development, germinal center formation is defective

often see under development of lymphoid tissue like nodes, spleen, tonsils

Question 7

X linked Agammaglobulinemia etiology and name

Answer 7

85% of agammglobulinemias, called Brutons agammaglobulinemia

due to problem with B cell tyrosine kinase

Question 8

BTK receptor in Brutons Agammaglobulinemia

Answer 8

part of the pre B cell receptor that leads to a phosphorylation and pathway to stimulate B cell maturation

one protein in a complex so other proteins can have problems too in the same complex

Question 9

XLA cellular signs

Answer 9

IgG less than 100 mg/dl
B cells less than 2% of total lymphocytes
Normal T cell function and number

Question 10

Hyper IgM syndrome

Answer 10

problems with class switching of antibodies
have regular number of B cells but elevated levels of IgM and low IgE/A/G

Question 11

IgA deficiency information

Answer 11

IgA less than 5-7mg/dl
most common primary immunodeficiency
Usually asymptomatic

Question 12

Common Variable Immunodeficiency (CVID) cell signs

Answer 12

most common symptomatic primary immunodeficiency

low IgG/A/M, reduced specific antibody responses to previous infections or vaccines

Question 13

Cause of Common Variable Immunofdeficiency

Answer 13

usually a gene involved in the development or maturation of B cells

Question 14

Common Variable Immunodeficiency symptoms

Answer 14

recurrent infections, mainly sinusitis, and pneumonia

life threatening infections

poor response to vaccines

Question 15

Risks associated with Common Variable Immunodeficiency

Answer 15

granulomatous diseases, autoimmune disorders, splenomegaly, and malignancies like lymphoma

Question 16

Specific Antibody Deficiency cell signs

Answer 16

normal antibody levels, normal T and B cell number and function

Question 17

Specific Antibody Deficiency symptoms

Answer 17

usually have recurrent sinopulmonary infections, impaired antibody response to encapsulated bacteria

most common deficiency is the specific antibody deficiency to pneumococcus from vaccine (polysaccharide)

Question 18

Some Killer Have Pretty Nice Capsules (encapsulated mnemonic

Answer 18

Step pneumo and pyogenes
Staph Aureus
Klebsiella
Haemophilus Influenzae
Pseudomonas aeruginosa
Neisseria meningitidis 
Cryptococcus neoformas

Question 19

Transient hypogammaglobulinemia in infancy symptoms

Answer 19

recurrent sinopulmonary infections

Question 20

Transient hypogammaglobulinemia in infancy cell signs

Answer 20

low IgG but normal specific antibodies due to slowed response

normal lymphocyte count and function

resolves by age 4, onset after IgG maternal lost

Question 21

Tests to run if speculating humoral deficiency?

Answer 21

CBC with differential
Age adjusted quantitative immunoglobulins
Specific antibody titers
Complement pathway CH50, AH50
Lymphocyte markers (CD19)

Question 22

common Specific antibody production tests

Answer 22

tetanus and diphtheria proteins and isohemagglutinins

Question 23

Prevnar vaccine for pneumococcal

Answer 23

conjugate vaccine given to infants that combines proteins from 13 common penuomoccocal strands

Question 24

Pneumovax polysaccharide vaccine for pneumococcal

Answer 24

combines 23 common polysaccharides from different pneumococcal strands

Question 25

common clinical infections withT cell dysfunction

Answer 25

infections with intracellular organisms like viruses, protozoa, mycobacterium, fungal, encapsulated bacteria

Question 26

Common clinical symptoms with T cell dysfunction

Answer 26

lack of growth, cant recall antigens, thrush, eczema, hair loss, eosinophilia, increased B cell malignancies

Question 27

Chronic Mucocutaneous Candidiasis symptoms

Answer 27

result in decreased cell mediated immunity against Candida species chronic non invasive infections usually cause changes in skin, nails and mucosal membranes

Question 28

SCID age of onset

Answer 28

typically between 4-6 months of age

Question 29

SCID signs of disease

Answer 29

severe persistent infections, oral thrush, chronic diarrhea and lack of growth

Question 30

SCID cellular cause

Answer 30

super low numbers of T cells...sometimes like B or Nk cells too will not respond to T cell mitogen test

Question 31

IL-2R gamma chain SCID cellular effects, mode of inheritance and defect

Answer 31

T cells low, B cells regular and NK cells low X linked defect in common gamma chain that makes interleukins

Question 32

Adenosine Deaminase Deficiency in SCID cellular effects, mode of inheritance and defect

Answer 32

T, B, and NK cells are low AR accumulation of toxic purine nucleosides...positive is you can give the enzyme to fix this

Question 33

RAG1/2 deficiency in SCID cellular effects, mode of inheritance and defect

Answer 33

T and B low, NK normal AR defective VDJ recombination

Question 34

TRECs definition

Answer 34

T cell receptor excision circles are made when the TCR complex is being produced the TRECs are a sign of thymic function and T cell production...so if they are there it is unlikely to have SCID but if they are not there in a screening then you may have SCID

Question 35

TRECs role in screening for SCID

Answer 35

the TRECs are a sign of thymic function and T cell production...so if they are there it is unlikely to have SCID but if they are not there in a screening then you may have SCID

Question 36

Omenn Syndrome symptoms and cellular problems

Answer 36

commonly issues with RAG genes, is a subset of SCID called Leaky SCID Low to normal number of T cells onset about 3 months (earlier than SCID) Symptoms include lymphadenopathy, heptosplenomegaly, diarrhea, lack of growth, elevated IgE and eosinophilia

Question 37

Wiskott aldrich syndrome and symptoms

Answer 37

involved with actin polymerization andaffects various lymphocyte functions Eczema, small platelets, low MPV, low IgG and IgM Regular IgA and IgE high risk of autoimmune and malignancy

Question 38

T cell immunodeficiency Tests

Answer 38

``` CBC with differential mitogen testing Antigen reactivity testing DTH to candida nucleic acid enzyme assays ```

Question 39

gene linkage of CGD

Answer 39

X linked and AR for phox genes

Question 40

Hyper IgE syndrome signs and symptoms

Answer 40

recurrent staph abscesses is most common sinopulmonary infections and sever eczema retained primary teeth, recurrent candida, recurrent bone fractures, high IgE, peripheral eosinophilia

Question 41

Hyper IgE cellular causes

Answer 41

IgE elevation is just a marker for disease true cause is from problem with neutrophils and T cells

Question 42

Primary Immunodeficiencies with Onset of birth to 3 months

Answer 42

phagocytic cell defects, complement defects, Digeorges

Question 43

Primary Immunodeficiencies with Onset of 3-6 months

Answer 43

SCID

Question 44

Primary Immunodeficiencies with Onset of 6 to 18 months

Answer 44

X linked agammaglobulinemia and transient hypogammaglobulinemia

Question 45

Primary Immunodeficiencies with Onset of 18 months to adult

Answer 45

common variable immunodeficiency and complement defects

Question 46

treatments for humoral antibody deficiency

Answer 46

prophylactic antibiotics IVIG and SQIgG

Question 47

treatments for combined immunodeficiency

Answer 47

``` stem cell IVIG prophylactics enzymes for PEG-ADA gene therapy Thymic transplant in digeorges ```

Question 48

treatments for phagocytic cell defects

Answer 48

prophylactic antibiotics, avoid live viral vaccines (hyperIgE), gamma interferon in CGD, bone marrow

Question 49

kawasaki disease presentation

Answer 49

conjuctivitis, swollen lymph nodes, swollen hands/feet, rash, changes in oral mucosa 4/5 means kawasaki, IVIG and aspirin can lead to vasculitis and increased risk of coronary artery disease

Question 50

should you give vaccine when on steroids?

Answer 50

maybe not because the steroids tone down CMI mainly and can cause the vaccine to not be as effective