Immunology Flashcards
1
Q
1yr old female presented with recurrent staphylococcal infection What test will you request? A. HIV Elisa B. C3 C4 assay C. Nitroblue tetrazolium D. Quantitative immunoglobulin assay
A
C
Phagocytic defect
2
Q
7 month old male presenting as failure to thrive, recurrent diarrhea and pneumonia. Patient came in for pcap, on culture noted H. Influenza What do you suspect? A. Combined immunodeficiency B. T cell immunodeficiency C. Wiskott Aldrich D. B cell immunodeficiency
A
D.
Loss of antibody mediated opsonization for encapsulated pyogenic bacteria
3
Q
most common b cell defect
what to screen?
A
selective igA deficiency
igA levels
4
Q
one of most useful test to check b cell function
A
isohemagglutinins (check antibodies to type A or B blood)
measures mostly igM
5
Q
common infection in x linked agammaglobinemia
A
enteroviruses
6
Q
common problems in CVID combined variable immunodeficiency
A
autoimmune disease
lypmhoid hyperplasia
7
Q
most cost effective test for T cell function
A
candida skin test
positive skin test rules out T cell defect
8
Q
when to suspect phagocytice cell dysfunction
A
recurrent staph infections
or gram negative infections
9
Q
what diagnostic for phagocytice cell dysfunction
A
neutrophil respiratory burst after phorbol ester
using rhodamine dye
previously nitroblue tetrazolium used
10
Q
most effect lab test for screening complement defect
A
CH50 assay
11
Q
severe hypoagammaglobulinemia
abscence of circulating b cells
small or absent tonsils
no palpable lymph nodes
A
x linked agammaglobulinemia
OR bruton agammaglobulinemia
12
Q
drugs associated with producing CVID
A
phenytoin
pencillamine
gold
sulfasalazine
13
Q
immunodeficiency with inadequate response to EBV infection
A
x linked lymphoproliferative disease
Duncan disease
14
Q
therapy for b cell defect except for mutation in cd40 ligand
A
IVIG to provide missing antibodies and not increase igG levels
cd40 ligand mutation treated with stem cell transplant
15
Q
caution with ___ use in patients with igA deficiency
A
IVIG or blood products
might produce anaphylaxis
16
Q
thymic hypoplasia results from
A
dysmorphogenesis of 3rd and 4th pharyngeal pouch
17
Q
catch 22
A
digeorge chromosome q2211.2 cardiac abnormal facies thymic hypoplasia cleft palate hypocalcemia
18
Q
one third of kids with digeorge have __ association
A
CHARGE coloboma heart defect atresia choanae retardation ear anomalies/deafness
19
Q
digeorge prone to
A
fungi
viruses
pneumocystis jiroveci
graft versus host disease (blood transfusion)
20
Q
SCID prone to
A
fungi
viruses
pneumocystis jiroveci
graft versus host disease (blood transfusion)
21
Q
most common form of scid in usa
A
x linked scid
low T and NK
high B cells
22
Q
second most common form of scid
A
autosomal recessive scid
absence of adenosine deaminase (ADA)
23
Q
how to distinguish cid from scid
A
cid has low but not absent t cell function
survive longer than scid
serum immunoglobulins may be normal or elevated
24
Q
x linked recessive
atopic dermatitis
thrombocytopenic purpura with normal appearing megakaryocytes but small defective platelets
xp11.22
prolonged bleeding at infancy
prone to infection with bacteria with polysaccharide capsules like strep. pneumoniae
A
wiskott aldrich
25
wiskott aldrich lab findings
impaired humoral immunity
igG normal or low
low isohemagglutinins, low igM, elevated igA igE,
26
tx for wiskott aldrich
ivig
27
immunodeficiency with immunologic, neurologi, endocrinologic, hepatic and cutaneous abnormalities
ataxia telangiectasia
28
features of ataxia telangiectasia
progressive cerebellar ataxia, oculocutaneous telangiectasias, chronic sinopulmonary disease, a high incidence of malignancy, and variable humoral and cellular immunodeficiency
29
Abnormal lymphocyte apoptosis leading to polyclonal population of t cells
Do not express cd4 and cd8
Autoimmune lymphoproliferative syndrome
| Canale Smith syndrome
30
Lymphadenopathy
Hepatosplenomegaly
Hypergammaglobulinemia igG igA
Hemolytic anemia
Autoimmune lymphoproliferative syndrome
| Canale Smith syndrome
31
Autoimmune lymphoproliferative syndrome
Canale Smith syndrome
Common malignancies
Hodgkin
Non Hodgkin lymphoma
Tumor of thyroid skin heart lung
32
Treatment of
Autoimmune lymphoproliferative syndrome
Canale Smith syndrome
Corticosteroids
| Immunosuppressant like cyclophosphamide methotrexate azathioprine
33
First weeks of life watery diarrhea (autoimmune enteropathy)
Eczematous rash
Diabetes
Hyperthyroidism or hypo
Coomb's positive hemolytic anemia thrombocytopenia neutropenia
Immune dysregulation polyendocrinopathy x linked syndrome
34
Tx Immune dysregulation polyendocrinopathy x linked syndrome
Cyclosporine tacrolimus sirolimus
| Steroids
35
Part of phagocytic system
Granulocytes:
Neut
Eos
Baso
Mononuclear phagocytes:
Monocytes
Tissue macrophages
36
Principal sites of macrophages in tissues
Liver (Kupffer cells)
Lung (interstitial and alveolar macrophages)
Connective tissue, adipose tissue, and interstitium of major organs and skin
Serosal cavities (pleural and peritoneal macrophages)
Synovial membrane (type A synoviocytes)
Bone (osteoclasts)
Brain and retina (microglial cells)
Spleen, lymph nodes, bone marrow Intestinal wall
Breast milk
Placenta Granulomas (multinucleated giant cells)
37
Function of macrophages
1. phagocytosis
2. presentation of antigens to lymphocytes
3. enhancement or suppression of the immune response through release of a variety of potent hormone-like factors termed cytokines
38
Tx in chronic granulomatous disease
Ifn gamma
39
Role macrophages in gaucher's
accumulation of cell debris that is normally cleared
enzyme glucocerebrosidase functions abnormally, thus allowing accumulation of glucocerebroside from cell membranes in Gaucher cells throughout the body
40
Diseases where macrophage activation is pathologically excessive
Familial and acquired hemophagocytic lymphohistiocytosis
41
uncontrolled activation of T cells and macrophages, with resultant fever, hepatosplenomegaly, lymphadenopathy, pancytopenia, marked elevation of serum proinflammatory cytokines, and macrophage hemophagocytosis
Familial and acquired hemophagocytic lymphohistiocytosis
42
malignancy-like overgrowth of Langerhans-type DCs
Langerhans cell histiocytosis
43
Tx for patients with hypereosinophilic syndrome
Steroids
44
Tx for patients with hypereosinophilic syndrome
Steroids
45
Life threatening condition associated with eosinophilia
Lofflers endocarditis
46
Eosinophilia associated with primary immunodeficiency
Wiskott Aldrich
Omenn syndrome
Hyperimmunoglobulin e syndrome
47
Children with phagocytic defects present
with deep tissue infection, pneumonia, adenitis, or osteomyelitis rather than blood stream infections
48
Difference between the three leukocyte adhesion defects
LAD 1 mutation in cd11/cd18 serious softi tissue and skin infection
LAD 2 normal cd11/cd18 neurologic defects, cranial facial dysmorphism, and absence of the erythrocyte ABO blood group antigen (Bombay phenotype)
LAD 3 Glanzmann thrombasthenia-like bleeding disorder, delayed separation of the umbilical cord
49
autosomal recessive disorder characterized by increased susceptibility to infection
caused by defective degranulation of neutrophils, a mild bleeding diathesis,
partial oculocutaneous albinism, progressive peripheral neuropathy, and a tendency to develop a life-threatening form of
hemophagocytic lymphohistiocytosis
Chédiak-Higashi syndrome
50
most life-threatening complication of chediak higashi
is the development of an accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes
hemophagocytic lymphohistiocytosis
51
Treatment for chediak higashi syndrome
Vitamin c
| Stem cell
52
most common inherited disorders of phagocytes
| Autosomal recessive
Myeloperoxidase (MPO) deficiency
53
neutrophils and monocytes capable of normal chemotaxis, ingestion, and degranulation
but unable to kill catalase positive microorganisms because of a defect in the generation of microbicidal oxygen metabolites
Chronic granulomatous disease
54
Chronic granulomatous disease phagocytic vacuoles lack microbicidal reactive oxygen species and remain ___
Acidic
55
Primary lymphoid organs develop
Thymus and bone develop middle of first trimester
56
Secondary lymphoid organs
—spleen, lymph nodes, tonsils, Peyer patches, and lamina propria
57
Positive selection
Occurs through the interaction of immature thymocytes, which express low levels of TCR, with major histocompatibility complex (MHC) antigens present on cortical thymic epithelial cells
thymocytes with TCR capable of interacting with foreign antigens presented on self human leukocyte antigen (HLA) molecules are activated and develop to maturity
58
Negative selection
occurs next in the medulla and is mediated by interaction of the surviving thymocytes
interaction mediates apoptosis (programmed cell death) of such autoreactive thymocytes
59
swirls of terminally differentiated medullary epithelial cells
first seen in the thymic medulla at 16-18 wk of embryonic life
Hassall’s corpuscles (bodies)
60
B-cell development begins in the fetal liver before__ of gestation
7wk
61
NK cell activity is found in human fetal liver cells at __ wk of gestation
8-11
62
Difference between class I and II MHC
Class I MHC molecules are found on most nucleated cells in the body
Class II MHC molecules are found on antigen-presenting cells (APCs), which include macrophages, dendritic cells, and B cells
63
CD4 molecule binds directly to
MHC II on Antigen presenting cells
64
CD8 on cytotoxic T cells binds
MHC class I molecule on the target cell
65
primary antibody response
native antigen is carried to a lymph node draining the site, taken up by specialized cells called follicular dendritic cells (FDCs), and expressed on their surfaces
66
secondary antibody response
occurs when these memory B cells again encounter that antigen
67
Newborn infants have increased susceptibility to infections with Gram-negative organisms
because IgM antibodies, which are heatstable opsonins, do not cross the placenta
68
IgM level of newborns rise by
6 days
69
Serum igA detected at ___ for newborns
13th day
| IgA does not Cross placenta
70
Normal infants cannot usually produce antibodies to polysaccharide antigens until after __ yr of age
2 years old
Can produce earlier if the polysaccharide is conjugated to a protein carrier, as is the case for the conjugate Haemophilus influenzae type b and Streptococcus pneumoniae vaccines.
71
thymus is largest relative to body size during
fetal life and at birth is ordinarily two-thirds of its mature weight, which it attains during the 1st yr of life.
72
Thymus reaches its peak mass at
just before puberty, and then gradually involutes thereafter.
73
T or f
| By 1 yr of age, all lymphoid structures are mature histologically.
True
74
Absolute lymphocyte counts in the peripheral blood also reach a peak during the
1st yr of life
75
Viruses that cause neutropenia
influenzas A and B, adeno-virus, respiratory syncytial virus, enteroviruses, human herpes virus 6, measles, rubella, and varicella
76
Nutritional cause of neutropenia
Vit b12 or folate deficiencies
Malnutrition
Low protein
Anorexia nervousa
77
Cyclic neutropenia occurs
Every 21 days +-4 days
78
Diagnosis of cyclic neutropenia
Get CBC 3x per week for 6-8 weeks
79
What's defect in cyclic neutropenia
Neutrophil elastase
Autosomal dominant
80
Tx for cyclic neutropenia
Filgrastim
81
Neuro deficit and sever neutropenia
Hax1 problem
Recessive form of the disease
Kostmann disease
82
autosomal recessive disorder classically characterized by
neutropenia
pancreatic insufficiency
short stature with skeletal abnormalities
steatorrhea and failure to thrive because of malabsorption
frequent otitis media, pneumonia and eczema
Shwachman-Diamond syndrome (SDS)
83
disorder of telomerase activity
bone marrow failure rather than isolated neutropenia
classical phenotype:
nail dystrophy, leukoplakia, mal-formed teeth, and reticulated hyperpigmentation of the skin
Dyskeratosis congenita
84
```
neutropenia
Partial albinism
high risk of HLH
but peripheral blood granulocytes do not show giant granules
hypogammaglobulinemia
caused by mutations in RAB27a
```
Griscelli syndrome type II
85
Leukemoid reaction
<50,000
| Mostly neutrophils
86
Role of monocytosis in patients ongoing chemo
harbinger of the return of the neutrophil count to normal
87
Classical pathway:
C1q, C1r, C1s, C4, C2, C3
88
Alternative pathway:
Factor B, Factor D
89
Membrane attack complex:
C5, C6, C7, C8, C9
90
have SLE, but recurrent meningococcal infections are much more likely to be the major problem
C5, C6, C7, or C8 deficiency
91
recurrent severe staphylococcal abscesses of the skin, lungs, and other sites and markedly elevated levels of serum IgE
candida is second most common pathogen
autosomal dominant
hyper igE syndrome
92
lab findings in hyper igE syndrome
high igE
eosinophilia
normal T B NK cells
normal igG igA igM
93
tx of hyper iG syndrome
ivig
94
most common indication for HSCT in childhood
ALL
95
autosomal recessive disease characterized by spontaneous chromosomal fragility,
which is increased after exposure of peripheral blood lymphocytes to DNA crosslinking agents, including clastogenic compounds, such as diepoxybutane, mitomycin C, and melphalan
Fanconi anemia
96
main indications for performing HSCT in patients with sickle cell disease are
history of strokes, magnetic resonance imaging of central nervous system lesions associated with impaired neuropsychologic function, failure to respond to hydroxyurea
97
major cause of mortality and morbidity after allogeneic hemato- poietic stem cell transplantation (HSCT)
graft -versus-host disease (GVHD)
caused by engraftment of immunocompetent donor T lymphocytes in an immunologically compromised host which show histocompatibility differences with the donor
98
tx of GVHD
cyclosporine or tacrolimus or com- binations of either with methotrexate or prednisone, anti–T-cell anti- bodies, mycophenolate mofetil
99
features of GVHD
primary manifestations are an erythematous maculopapular rash, persistent anorexia, vomiting and/or diarrhea, and liver disease with increased serum levels of bilirubin, alanine aminotransferase, aspartate aminotransferase, and alkaline phosphatase
thinning of hair
GI ulcers
100
major cause of nonrelapse mortality and morbidity in long-term HSCT survivors
Chronic GVHD
101
factor that confers favorable course in GVHD
skin manifestation only
102
primary graft failure
failure to achieve a neutrophil count of 0.2 × 109/L by 21 days posttransplantation
103
Secondary graft failure
loss of peripheral blood counts follow- ing initial transient engra ment of donor cells
104
on pulmo ct of patient with progressing pneumonia noted enlarging nodule, the dense central core of infarcted tissue becomes surrounded by edema or hemorrhage, forming a hazy rim
what is sign?
dx?
halo sign
| aspergillosis
105
in aspergillosis, pulmonary infarcted central core cavitates, creating the __
crescent sign
106
remains the most common and potentially severe viral complication in patients given allogeneic HSCT
CMV
107
diarrhea, failure to thrive, generalized scaling rash, recurrent cutaneous/systemic infection
severe combined immunodeficiency syndrome
108
```
x linked recessive
thrombocytopenia
immune defect
recurrent severe bacterial infection
eczema
```
wiskott aldrich syndrome
109
elevated igE
recurrent deep seated bacterial infection
chronic dermatitis
refractory dermatophytosis
hyper igE syndrome
