Immunology

Question 1

Extracellular bacteria

Answer 1

B cells - immunoglobulins

Question 2

Intracellular bacteria, viruses, and fungi

Answer 2

T cells

Question 3

Present after 6mo with recurrent sinopulmonary, GI, and UTIs with encapsulated organisms

Answer 3

B-cell deficiencies

Encapsulated: H flu, Strep pneumo, Neisseria meningitidis

Question 4

Tx: B cell deficiencies

Answer 4

IVIG (except IgA def)

Question 5

Present 1-3mo with opportunistic and low-grade fungal, viral, and intracellular bacterial infections (mycobacteria)

Answer 5

T-cell deficiencies

Question 6

Mucous membrane infections, abscesses, poor wound healing. Infections with Catalase+ org (S aureus), fungi, and gram- enteric organisms are common

Answer 6

Phagocyte deficiencies

Question 7

Children with recurrent bacterial infections with encapsulated organisms. In children with congenital asplenia or splenic dysfunction

Answer 7

Complement deficiencies

Question 8

Bruton’s congenital agammaglobulinemia

Answer 8

XLR (found only in boys)
B-Cell disorder
Apparent after 6 mo (when maternal IgG is inactive.
Encapsulated infections: Pseudomonas, Strep pneumo, Haemophilus influ.

Question 9

Dx: Bruton’s

Answer 9

Quantitative immunoglobulin levels
-if low, confirm with B and T cell subsets
-B cells absent, T cells often high
Absent tonsils and other lymphoid tissue

Question 10

Tx: Bruton’s

Answer 10

Prophylactic Abx

IVIG

Question 11

Common variable immunodeficiency (CVID)

Answer 11

Usually combined B and T cell defect
ALL Ig LEVELS LOW (20s and 30s)
Normal B cell numbers
Dec plasma cells
Usually present later in life (15-35y)
Inc pyogenic and URI and lower resp infections.
Inc risk of lymphoma and autoimmune dz

Question 12

Dx: CVID

Answer 12

Quantitative immunoglobulin levels

Confirm with B and T cell subsets

Question 13

Tx: CVID

Answer 13

IVIG

Question 14

IgA Deficiency

Answer 14

MC immunodeficiency
B-cell disorder
Dec IgA levels only
Usually asymptomatic
May have recurrent resp or GI infections (Giardia)
Prone to anaphylactic transfusion reactions 2/2 anti-IgA antibodies

Question 15

Tx: IgA deficiency

Answer 15

DO NOT GIVE IVIG, can lead to the production of anti-IgA antibodies
Treat infections

Question 16

DiGeorge Syndrome (Thymic aplasia)

Answer 16

CATCH 22
Cardiac abnormalities
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
Chromosome 22
Presents: tetany 2/2 hypocalcemia in first days of life
Variable risk of infection
Much INC risk with viruses, fungi and PCP

Question 17

Dx: DiGeorge

Answer 17

XRay may show absent thymic shadow

Absolute lymphocyte count

Question 18

Tx: DiGeorge

Answer 18

Bone marrow transplant
IVIG
PCP prophylaxis
Alternative - thymus transplant

Question 19

Ataxia-telangiectasia

Answer 19

Combined (B and T) disorder
Progressive cerebellar ataxia and oculocutaneous telangiectasias.
Defect: DNA repair
INC incidence of malignancies (non-Hodgkin’s, leukemia, and gastric carcinoma).

Question 20

Tx: ataxia-telangiectasia

Answer 20

No specific treatment, maybe IVIG depending on the severity

Question 21

Severe Combined Immunodeficiency (SCID)

Answer 21

Combined (B and T) disorder
Defect in stem cell maturation
Dec in adenosine deaminase
Severe, frequent bacterial infections, chronic candidiasis, opportunistic organisms

Question 22

Tx: SCID

Answer 22

Bone marrow or stem cell transplant
IVIG for ab deficiency
PCP prophylaxis

Question 23

Wiskott-Aldrich Syndrome

Answer 23

XLR (only seen in males)
Combined (B and T) disorder
Symptoms at birth
INC IgE/IgA
DEC IgM
DEC Plt (Thrombocytopenia)
INC risk of atopic disorders, lymphoma/leukemia, and infection from encapsulated org (S pneumo, S aureus, H influ)

Question 24

Bleeding, eczema, recurrent otitis media

Answer 24

Wiskott-Aldrich Syndrome
W.I.P.E.
Wiskott-Aldrich
Infections
Purpura (thrombocytopenia)
Eczema (atopic disorders)

Question 25

Chronic Granulomatous Dz

Answer 25

XL (2/3), AR (1/3) Phagocytic disorder Def. of Superoxide production in PMNs and macrophages May see: anemia, lymphadenopathy, and hypergammaglobulinemia Chronic infections with CATALASE+ org S aureus, E coli, Candida, Klebsiella, Pseudomonas, Aspergillus Chronic skin, lymph node, pulm, GI, urinary tract, osteomyelitis, and hepatitis May have granulomas of the skin, GI/GU tracts

Question 26

Dx: CGD

Answer 26

Abs PMN count with PMN assay | NITROBLUE tetrazolium test - dx of CGD

Question 27

Tx: CGD

Answer 27

Daily TMP-SMX INF-gamma can DEC incidence of serious infection New therapies: bone marrow transplant and gene therapies

Question 28

Leukocyte Adhesion Def

Answer 28

Phagocytic disorder defect in chemotaxis of leukocytes Recurrent skin, mucosal, and pulm infections DELAYED SEPARATION OF THE UMBILICAL CORD Omphalitis in the newborn NO PUS with MINIMAL INFLAMMATION in wounds HIGH WBC in blood

Question 29

Tx: LAD

Answer 29

Bone marrow transplant is curative

Question 30

Chediak-Higashi Syndrome

Answer 30

AR Phagocytic disorder Defect in PMN chemotaxis and microtubule polymerization. PARTIAL OCULOCUTANEOUS ALBINISM, PERIPHERAL NEUROPATHY AND NEUTROPENIA Greatly INC incidence of overwhelming pyogenic infections with S pyogenes, S aureus, and Pseudomonas sp

Question 31

Giant granules in PMNs

Answer 31

Chediak-Higashi Syndrome

Question 32

Tx: Chediak-Higashi

Answer 32

Bone marrow transplant in ToC

Question 33

Job's Syndrome

Answer 33

``` Phagocytic disorder Defect in PMN chemotaxis RECURRENT S AUREUS INFECTIONS AND ABSCESSES F.A.T.E.D coarse Facies Abscesses (S aureus) retained primary Teeth hyper-IgE (eosinophilia) Dermatologic (severe eczema) ```

Question 34

Tx: Job's Syndrome

Answer 34

Penicillinase-resistant abx | IVIG

Question 35

Fever Bilat, nonexudative, painless conjunctivitis Polymorphous rash Unilateral cervical lymphadenopathy Strawberry tongue; dry, red, cracked lips Erythema of palms and soles Indurative edema of the hands and feet desquamation of the fingertips Sterile pyuria, gallbladder hydrops, hepatitis, and arthritis

Answer 35

Kawasaki's Dz

Question 36

Kawasaki dz: Subacute phase

Answer 36

``` begins after abatement of fever lasts 2-3 wks Thrombocytosis, elevated ESR Untreated may begin to develop coronary artery aneurysm Asses with ECHO ```

Question 37

Kawasaki dz: Chronic phase

Answer 37

begins when clinical symptoms have disappeared | Lasts until ESR returns to baseline

Question 38

Tx: Kawasaki

Answer 38

High-dose ASA IVIG Low-dose ASA is continued, usually for 6 wks If coronary aneurysm, chronic anticoag with ASA (corticosteroids may be used in IVIG-refractory cases)