final-immune deficiencies

Question 1

opportunistic organisms take hold in the host when?

Answer 1

immune system is depleted

Question 2

Primary Immune Deficiencies (PIDs) are clinically manifested during?

Answer 2

first years of life (>6 months)

Question 3

PIDs are classified based on Host-defense mechanisms involving?

Answer 3

Ab deficiencies, T cell deficient, SCID, deficiencies of phagocytes, complement deficiencies.

Question 4

Maternal and protect the infant for only?

Answer 4

6 months post natally

Question 5

HIV, DiGeorge syndrome, CD3gamma chain mutations, and X-linked hyper IgM syndrome is due to?

Answer 5

T cell immunodeficiency

Question 6

differential count in blood cells for B cell detects?

Answer 6

CD19 and CD20

Question 7

lab test serum IgG, IgM, and IgA screens for humoral immunodeficiency and looks for

Answer 7

decrease in Ig’s

Question 8

X-linked agammaglobulinemia and autosomal recessive type, IgA deficiency, Wiskott-Aldrich are types of?

Answer 8

B cell deficiencies

Question 9

ADA- adenosine deaminase deficiency, is a

Answer 9

B cell progenitor deficiency- but can affect all cell types

Question 10

RAG 1, RAG 2, and Artemis mutation affect?

Answer 10

Pro- B cells

Question 11

BTK, BLNK, Ig-alpha chains affect?

Answer 11

Pre-B cells

Question 12

CD 19 mutations are selective for

Answer 12

BCR on mature B cells

Question 13

Failure to express Ig Receptor in developing B cells can induce?

Answer 13

apoptosis

Question 14

X-linked agammaglobulinemia is caused by mutations in ____which disrupts rearrangement of the Ig Heavy chains. Resulting in early B cell arrest in the Pre-B cell stage. Clinically, low or absent numbers of B cell antibodies IgG, IgA, IgM)

Answer 14

BTK gene (Bruton Tyrosine Kinase)

Question 15

X-linked agammaglobulinemia exhibits heterogeneity and has poorly developed or absent

Answer 15

spleen, tonsils, adenoids, Peyer’s patches, and peripheral lymph nodes

Question 16

Autosomal recessive agammaglobulinemia is a mutation in?

Answer 16

BLNK-signal transduction pathways.

Question 17

some IgG production happens in the mature B cells. Isotype switching with active ___ induces plasma cell differentiation in infections.

Answer 17

CD19

Question 18

defects in B cell formation

Answer 18

inherited

Question 19

antibodies against B cells for immune targeting is

Answer 19

acquired.

Question 20

in IgA deficiency, what is not detectable?

Answer 20

soluble, circulating IgA’s

Question 21

in hyper IgM syndromes, you have high levels of IgM but low?

Answer 21

IgG and IgA

Question 22

X-linked hyper IgM syndromes (HIGM) are due to mutations in the? which sex is affected more?

Answer 22

CD40 ligand expressed on Cd4+ T helper cells which is a trigger for isotype switching and somatic hypermutation.

males- 75% for CD40ligand
Females and males- 25% autosomal CD40

Question 23

transient hypogammaglobulinemia of infancy, instrinsic Ig production is delayed for up to 36 months and results in low IgG and IgA concentraionts but normal IgM.

Answer 23

sinopulmonary infections

Question 24

low IgM, normal IgG, elevated IgA and IgE are characteristics of?

Answer 24

Wiskott-Aldrich syndrome

Question 25

patient with bloody diarrhea, prolonged bleeding from thrombocytopenia, and recurrent infections by encapsulated bacteria. Patient also has low IgM but elevated IgA. Which syndrome is suspected?

Answer 25

Wiskott-Aldrich Syndrome

Question 26

severe lymphopenia- low mature T and B cells, and usually detected in childhood.

Answer 26

SCID-severe combined immuno deficiency

Question 27

ADA patients have no T, B, or NK cells present. which increase risk of?

Answer 27

opportunistic fungal infections- Thrush!

Question 28

JAK3 deficiencies cause a defect in about 6% of SCID patients

Answer 28

IL-2 signaling

Question 29

in common gamma chain deficiency, which cell phenotypes are expressed? which are not? which mode of inheritance?

Answer 29

B cells expressed. T and NK cells are not.

X-linked recessive

Question 30

a key biochemical feature of DiGeorge syndrome is?

Answer 30

Hypocalcemia- resulting in tetany or seizures

deletion of 22q11 chromosome- lack of finger separation

Question 31

cardiac defects are the focus of clinical management in this syndrome of deletion in 22q11?

Answer 31

DiGeorge

Question 32

deficiency of NADPH oxidase in phagocytes lead to chronic granulomas disease. Patients have recurrent infections with

Answer 32

catalase-positive organisms

ex: staphylococci

Question 33

neutrophil granules that contain no Cathepsin G or elastase, no NK activity, recurrent pyrogenic infections, hepatosplenomegaly, lymphadenopathy are typical to this immune disease

Answer 33

Chediak-Higashi syndrome

Question 34

delayed detachment of the umbilical cord, severe infections, and defective migration of neutrophils

Answer 34

Leukocyte Adhesion Deficiency

Question 35

Patients with defects of the alternative pathway characteristically present with?

Answer 35

Neisseria infections (Meningitis)

Question 36

SLE-like syndrome and vasculitis with more than 100 cases deficient in this classical pathway protein

Answer 36

C2

Question 37

chronic, non-responsive to drug therapy, and usually involve opportunistic and atypical organisms are features of?

Answer 37

immunodeficient infections