Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

CT_SFM Block > Primary Immunodeficiencies > Flashcards

Primary Immunodeficiencies Flashcards

1
Q

Unlike B cell and Innate immunodeficiency, T cell deficiencies are associated with all of the following except?

A. Pneumocytosis jiroveci
B. Cancer
C. Non-TB mycobacteria
D. Pyogenic bacteria
E. Fungi
A

Pyogenic bacteria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

T/F: A fetus with SCID is at RISK of abortion due to inability to reject the maternal T cells that cross the placenta into the fetal circulation

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Adenosine Deaminase (ADA) deficiency

A
  • autosomal recessive
  • 2nd most common cause of SCID
  • leads to accumulation of deoxyadenosine which is toxic to lymphocytes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Purine Nucleoside Phosphorylase (PNP) Deficiency

A
  • autosomal recessive

- accumulation of intracellular dGTP that decreases the amount of T cells in the periphery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Artemis deficiency

A
  • autosomal recessive
  • T and B cell numbers are decreased, with NK cell numbers normal
  • RADIOSENSITIVITY
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

All of the following deficiency result in low or very low IgA, IgG, or IgM except?

A. ADA
B. PNP
C. ARTEMIS
D. RAG1/2
E. Jak3
A

PNP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

RAG1/RAG2 Deficiency vs Leaky RAG1/RAG2

A

RAG1/2 deficiency leads to defective pre-BCR and pre-TCR

Leaky RAG1/2 is associated with Omenn Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

X-linked Btk Kinase Decificency

A
  • No IgG, IgM, IgA

- caused by defective rearrangement of Ig heavy chains

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

IgA Deficiency

A
  • occurs in 1/700 individuals

- no IgA, but normal levels of IgG and IgM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

The classic triad for Digeorge syndrome (DGS)

A
  • cardiac anomalies
  • hypocalcemia
  • hypoplastic thymus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

X-linked vs Autosomal Hyper IgM Syndromes

A
  • X-linked: CD40L deficiency
  • Autosomal: CD40 deficiency

Noted by failure of class switching and somatic hypermutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Transient Hypogammaglobinemia of Infancy

A
  • low IgG/IgA and normal levels of IgM (or low)
  • increased susceptibility to sinopulmonary infections
  • Ig concentrations normalize between 2 and 4 years of age
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Common Variable Immune Deficiency (CVID)

A
  • autosomal disorder
  • defect in Ab production associated
  • B cells fail to become plasma cells
  • history of recurrent pyogenic sinopulmonary infections
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Common y Chain Deficiency (yc or IL-2Ry)

A
  • MOST COMMON form of SCID
  • no functional B cells
  • very Low IgG, IgA, IgM
  • immunophenotype (T-, B+, NK-)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

IL-7R Alpha Chain Deficiency

A
  • autosomal recessive

- T-B+NK+ phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the result of mutations in genes encoding for either IL-17, IL-17R, or transcriptional factors STAT1, STAT3, or AIRE?

A

Th17 deficiency

- high susceptibility to chronic mucocutaneous candidiasis

17
Q

Wiskott-Aldrich Syndrome (WAS)

A
  • low IgM; normal to elevated IgA and IgG
  • X-linked recessive disorder
  • thrombocytopenia, eczema
  • recurrent bacterial infections with encapsulated bacteria
  • T-B+NK-
18
Q

Chronic Granulomatous Disease (CGD)

A
  • most common phagocytic deficiency

- NADPH oxidase deficiency that causes failure to generate superoxide anion and other O2 radicals

19
Q

G6PD Deficiency

A
  • lack of substrate for NADPH
  • X-linked recessive
  • similar manifestation of CGD
20
Q

Leukocyte Adhesion Deficiency I

A
  • mutation in the gene for Beta-2 integrins CD11 and CD18
21
Q

Leukocyte Adhesion Deficiency II

A
  • impaired adhesive functions of P-selectin glycoprotein ligand 1
  • fucose transporter mutation causes PSGL-1 defect
22
Q

Leukocyte Adhesion Deficiency III

A
  • defective activation-dependent signaling of Beta-2 integrins
  • LAD-1
23
Q

What are the clinical manifestations of LAD?

A
  • delayed detachment of the umbilical cord
  • slow wound healing
  • severe bacterial infections
  • failure to form pus
24
Q

Chediak-Higashi Syndrome

A
  • autosomal recessive
  • abnormal giant granules that for not contain cathepsin G and elastase
  • abnormal chemotaxis and degranulation
25
Q

Agammaglobulinemia

A
  • X-linked trait usually, but sometimes autosomal recessive
  • early B cells are arrested at pre-B cell stage causing circulating B cells to be absent or present in low numbers
  • X-linked form of this is Btk mutation
26
Q

T/F: A microdeletion in chromosome 22 at the 22q11.2 region can lead to complete DiGeorge Syndrome

A

True

CT_SFM Block (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions