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PPOM1 Block 4 > Lecture 154 > Flashcards

Lecture 154 Flashcards

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1
Q

What type of PID is leukocyte adhesion deficiency type 1?

A

Innate immune deficiency

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2
Q

What is the inheritance pattern of leukocyte adhesion deficiency type 1?

A

Autosomal recessive

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3
Q
A
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4
Q

What is the characteristic histological finding in Chediak-Higashi syndrome?

A

Peroxidase and lysosomal granules in neutrophils

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5
Q

What is the inheritance pattern of leukocyte adhesion deficiency type 1?

A

Autosomal recessive

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6
Q

A mutation in the gene encoding the CD18 adhesion molecule leads to what PID?

A

Leukocyte adhesion deficiency

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7
Q

What is the consequence of CD18 adhesion molecule mutation in leukocyte adhesion deficiency type 1?

A

Decreased beta-2 integrin expression

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8
Q

What PID is implicated in delayed umbilical cord separation at birth?

A

Leukocyte adhesion deficiency type 1

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9
Q

What is notable about nectrotic S. aureus infections in type 1 leukocyte adhesion deficiency?

A

Infection without pus

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10
Q

What is the treatment for leukocyte adhesion deficiency type 1?

A

HSCT if severe

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11
Q

What group of bacteria are common causes of infections in B-cell immune defects?

A

Encapsulated bacteria (S. pneumo, H. influ, S. aureus)

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12
Q

What type of PID is Bruton (X-linked) aggamaglobulenemia?

A

B cell

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13
Q

What is the inheritance pattern of Bruton aggamaglobulenemia?

A

X linked

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14
Q

When does Bruton aggamaglobulenemia typically present?

A

6 months old

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15
Q

Lymphoid hypoplasia (no tonsils or LN) is a typical presentation of what PID?

A

Bruton aggamaglobulenemia

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16
Q

What are the characteristic lab results associated with Bruton aggamaglobulenemia?

A

Low Ig and B cells

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17
Q

What type of bacterial infections are common in Bruton aggamaglobulenemia?

A

Sinopulmonary infections (S. pneumo, H. influ)

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18
Q

What viral infection is common in Bruton aggamaglobulenemia?

A

Chronic enteroviral meningoencephalitis

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19
Q

What is the treatment for Bruton aggamaglobulenemia?

A

IVIG and antibiotics

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20
Q

What counseling should be provided to patients with Bruton aggamaglobulenemia?

A

No live vaccines

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21
Q

What type of PID is DiGeorge syndrome?

A

T cell

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22
Q

What type of PID is Hyper-IgE syndrome (Job syndrome)?

A

T cell

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23
Q

What PID results from monosomy of chromosome 22 (22q11)?

A

DiGeorge syndrome

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24
Q

Dysmorphogenesis of what embryonic structure leads to DiGeorge syndrome?

A

3rd/4th pharyngeal pouches

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25
The TBX1 gene is associated with what PID?
DiGeorge syndrome
26
What midline defects are commonly seen in DiGeorge syndrome?
Thymic hypoplasia, cardiac abnormalities, parathyroid hypoplasia, and facial dysmorphology
27
What is the treatment for DiGeorge syndrome?
TMP-SMX, thymus transplant, HSCT
28
What counseling should be provided to patients with DiGeorge syndrome?
No live vaccines, irradiate all blood products
29
What does the mnemonic CATCH 22 mean in relation to DiGeorge syndrome?
Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia, 22 chromosome
30
Hyper-IgE syndrome, AKA
Job syndrome
31
What is the inheritance pattern of Hyper IgE syndrome?
Autosomal dominant
32
A mutation in STAT3 results in what PID?
Hyper IgE syndrome
33
What is the pathophysiology of Hyper-IgE syndrome?
Cell signaling and Th17 affected (Candidal/bacterial infection)
34
What is the classic triad associated with Hyper IgE syndrome?
Eczema, recurrent skin infections, and pulmonary infections
35
A staph skin infection without inflammation is AKA:
Cold abscess
36
Cold abscesses are associated with what PID?
Hyper IgE syndrome
37
What is the treatment for Hyper IgE syndrome?
TMP-SMX
38
What type of PID is X-linked SCID?
Combined B and T cell
39
What type of PID is ADA deficiency?
Combined B and T cell
40
What type of PID is hyperimmunoglobulin M syndrome?
Combined B and T cell
41
What type of PID is Wiskott Aldrich syndrome?
Combined B and T cell
42
SCID involves a complete absence of what cell type?
No T cells
43
What is the presentation timeline for SCID?
Normal at birth, develop FTT and chronic diarrhea
44
What opportunistic infections are common in SCID?
Encapsulated bacteria, CMV, Candida, PCP
45
What is a classic CXR finding in SCID?
No thymic silhouette
46
SCID is fatal by what age if left untreated?
Less than 2 years old
47
What is the ultimate treatment for SCID?
BM/HSCT
48
X-linked SCID is a result of what cytokine defect?
IL-2 defect
49
What type of infection is common in X-linked SCID?
Candidal infections
50
What is the inheritance pattern of ADA deficiency?
Autosomal recessive
51
What is the result of ADA deficiency?
Absence of T, B, and NK cells
52
What skeletal deformities are present in ADA deficiency?
Beading at costochondral junction
53
What are the treatment options for ADA deficiency?
IVIG, prophylatic antibitoics, ADA replacement, gene therpy, HSCT
54
A defect on CD40L gene, expressed on CD4, results in what PID?
Hyper IgM syndrome
55
What is the pathophysiology of Hyper IgM syndrome?
Unable to switch from IgM to IgG/IgA/IgE, but a normal number of B cells
56
What physical exam finding is common in Hyper IgM syndrome?
Lymphoid hyperplasia
57
What are the treatment options for hyper IgM syndrome?
IVIG, PJP prophylaxis
58
What is the inheritance pattern of Wiscott-Aldrich syndrome (WAS)?
X-linked
59
What gene is implicated in Wiscott-Alrich syndrome?
WAS gene
60
What is the pathophysiolgy of Wiscott-Aldrich syndrome?
Mutation in the WAS gene affectes cytoskeletal organization of hematopoetic cells
61
When does WAS present?
Infancy
62
The triad of eczema, thrombocytopenia, and immune deficiency indicates what PID?
Wiscott-Aldrich syndrome (WAS)
63
What are typically the first signs of WAS?
Prolonged bleeding from circumcision, bloody diarrhea, increased bruising
64
Extranodal lymphoma and intracranial bleeds are serious complications of what PID?
WAS
65
What are the potential treatments for WAS?
HSCT, splenectomy
66
What does the mnemonic WAITER represent?
Wiskott-Aldrich Immunodeficiency, Thrombocytopenia, Eczema, Recurrent pyogenic infections

PPOM1 Block 4 (44 decks)

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