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SFM - Final Exam New Material > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

Severe Combined Immune Deficiency (SCID)

Caused By?

Lymphocytes impacted?
Immunoglobins?

Characterizations

A

ADA Deficiency | ARTEMIS Deficiency
Converting deoxyadenosine to deoxyinosine | repairing double strand breaks in VDJ recomb

ADA: T-B-NK-
ARTEMIS: T-B-NK+
Low IgG, IgA, IgM

Severe Lymphopenia, severe opportunistic infections, chronic diarrhea, FTT

Avoid Live Viral Vaccines

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2
Q

ADA Deficiency

Lymphocytes impacted?
Immunoglobins?

Characterizations

A

Autosomal Recessive

T-, B-, NK-
Low IgG, IgA, IgM

Accumulation of deoxyadenosine

HSCT
Avoid Live Viral Vacccines

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3
Q

Purine Nucleoside Phosphorylase (PNP) Deficiency

Lymphocytes impacted?
Immunoglobins?

Characterizations?

Treatment?

A

Autosomal Recessive

T-, B+, NK+/-
Normal IgG, IgA, IgM

Accumulation of intracellular dGTP
Decrease in peripheral T-cells
Early Onset Neurological Abnormalities
Autoimmune Disorders

HSCT Treatment
Avoid Live Viral Vacccines

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4
Q

ARTEMIS Deficiency

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

Autosomal Recessive Radiosensitive

T-, B-, NK+
Low IgG, IgA, IgM

Diarrhea, candidiasis, pneumonia
T/B cell decreased

HSCT
Avoid Live Viral Vaccines

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5
Q

RAG1/RAG2 Def

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

Autosomal Recessive

T-, B-, NK+
Low IgG, IgA, IgM

Causes impaired VDJ Recombination, defective pre-TCR/BCR
Diarrhea, candidiasis, pneumonia
Leaky RAGs = Omenn Syndrome

HSCT
Avoid live viral vaccines

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6
Q

Omenn Syndrome

A

Similar to Rag1/Rag2 Def.

Characterized by:
severe erythroderma, splenomegaly, eosinophilia, high IgE

Avoid live viral vaccines

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7
Q

Jak3 Deficiency

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

Autosomal Recessive

T-, B+, NK+
Very low IgG, IgA, IgM

Caused by mutation in Jak3 gene
Causes defect in IL-2 signalling

HSCT Possible treatment
Avoid Live Viral Vaccines

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8
Q

Agammaglobulinemia

Characterizations

A

Mostly X-linked trait, but Autosomal Recessive also exists

Early B-cell development arrested
Pre-B cells are normally absent or in very low numbers

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9
Q

X-Linked Btk Kinase Deficiency

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

X-linked disorder

B-, T+, NK+
No IgG, IgA, IgM

Mutation in tyrosine kinase
Caused by defect in rearrangement of Ig heavy chain genes
Presents in 5-6 month infants

HSCT

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10
Q

Isolated IgG Subclass Deficiencies

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

B+, T+, NK+
Low IgG, normal IgM, IgA, IgE

Decrease of one or more IgG subclasses
Caused by defects in several genes
Normally asympotmatic, sometimes recurrent infections in respiratory tract
Low IgG2, varying IgG4

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11
Q

IgA Deficiency

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

B+, T+, NK+
No IgA, normal IgG, IgM

Higher prevalence in males, diagnosed by recurrent infections w/ encapsulated bacteria
Mostly asymptomatic
Development of autoimmune diseases
May have anti-IgA IgG in response to anaphylaxis

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12
Q

Digeorge Syndrome (DGS)

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

T-, B+, NK+
Normal IgG, IgA, IgM

Results from microdeletion of 22q11.2 region (35 genes)
Classic triad: Cardiac anomaly, hypocalcemia, hypoplastic thymus
Humoral Immunity intact

Live Viral Vaccines given to CD > 300

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13
Q

Hyper IgM Syndromes (HIGM)

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

B+, T+, NK+
High TgM, low IgG, IgA

Impaired class switching & somatic hypermutation
Normal peripheral B cells, but low CD27 positive memory cells
Increased bacterial infections

X-linked HIGM: Mutations in CD40L gene

HSCT

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14
Q

CD40L/CD40 Deficiency

A

X-Linked: Happens only in males, 2/3 of all HIGM cases

Autosomal CD40 def: Male and Female, 1/3 of all HIGM

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15
Q

Transient Hypogammaglobulinemia of Infancy

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

B+, T+, NK+
Low IgG, IgA, Normal or Low IgM

Maternal IgG disappears 6 months after birth
Ig production delayed for up to 36 months
Increased susceptibility to sinopulmonary infections

Normalizes between 2-4 years

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16
Q

Common Variable Immune Deficiency (CVID)

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

Autosomal

B-/+, T+, NK+
Low IgG, IgA, sometimes low IgM

Defect in Ab production
immature B cells fail to differentiate into plasma cells or mature into B cells
Based on history of recurrent sinopulm infections, autoimmune disease, lymphomas
Onset 4-5 yoa, but diagnosed at 20-30

HSCT

17
Q

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

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

X-Linked Recessive

T-, B+, NK-
Very low IgG, IgA, IgM

Most common SCID (45%)
No functional B-cells
FTT, severe thrush, opportunistic infections, chronic diarrhea

HSCT
Avoid Live viral vaccines

18
Q

IL-7R Alpha Chain Deficiency

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

Autosomal Recessive (SCID)

T-, B+, NK+
Very low IgG, IgA, IgM

Il-7 is involved in early T-cell development
Ig low/absent even with presence of B-cells
Patients present with classic SCID
Sequencing IL-7R gene confirms diagnosis

HSCT
avoid live viral vaccines

19
Q

Bare Lymphocyte Syndrome Type 2 (BLS II)

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment

A

Autosomal Recessive

CD4-, CD8+, B+, NK+
Variable hypogammaglobulinaemia (IgA and IgG2)

Mutation in gene encoding transcription factors regulating MHC II expression
Reccurent GI/Urinary infections, death in early childhood

HSCT

20
Q

MHC I Deficiency

Lymphocytes impacted?
Immunoglobins?

Characterizations

A

CD4+, CD8-, B+, NK+
Normal DTH and Ab

Caused by mutation in TAP1

Can’t transplant HSCT, won’t solve problem

21
Q

CD3 Complex Deficiencies

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

Autosomal Recess
T-, B+, NK+
Low IgG, IgA, IgM

Presents in lymphopenia and decreased T cell numbers, FTT, opportunistic
Specific Antibody responses decreased

HSCT

22
Q

IFN-y-IL-12 Axis Defect

Characteristics

A

Mutations in IL-12 or IL12R genes resulting in susceptibility to nontuberculous mycobacteria

IFN-y

Patients do not produce Th1 cytokine IFN-y
Selective susceptibility to intracellular pathogens
Also have defects in formation of IL-17 –> Th17

23
Q

Th17 Deficiency

Characteristics

A

Unusual susceptibility to chronic mucocutaneous candidiasis
Mutations in genes encoding: IL-17, IL-17R
Or Transcription Factors: STAT1, STAT3, AIRE

24
Q

Immunodysregulation, Polyendocrinopathy

, and enteropathy, X-linked Syndrome (IPEX)

A

Self Reactive T Effector cells not inhibited
Mutation in FOXP3 —> loss of inhibition of CD4, CD25, Treg

HSCT

25
Q

Autoimmune Lymphoproliferative Syndrome (ALPS)

A

Defects in Fas, FasL, caspase-8, caspase-10
Resulting in altered formation of death-inducing signalling complex (DISC)
Resistance to Effector T cells to apoptosis

Can’t treat using HSCT

26
Q

Wiskott-Aldrich Syndrome (WAS)

Lymphocytes impacted?
Immunoglobins?

Characterizations

Treatment?

A

X-Linked Disorder

T-, B+, NK-
Low IgM, normal IgM, elavated IgA, IgE

thrombocytopenia, eczema, cellular + humoral immunodeficiency, malignancy
Caused by mutations in WASP

27
Q

NK Cell Deficiency (NKD)

Characterizations

A

Caused by mutations in multiple gemes

  • Classical NKD (CNKD): Absence of NK cells
  • Functioncal NKD (FNKD): Presence of NK cells but defective
28
Q

Chronic Granulomatous Disease (CGD)

Characteristics

A

Tendency to form granulomas

Most frequent phagocytic primary immunodeficiency
More common in males

Caused by NADPH oxidase deficiency
Defective elimination of bacteria/fungi through superoxide

29
Q

Leukocyte Adhesion Deficiency (LAD)

A

Neutrophil count is twice normal level
Reccurent infections of oral mucosa, skin, intestinal and respiratory tracts
Neutrophils unable to aggregate, do not bind to intercellular integrins
Slow healing of scars, dysplastic scars

LAD-1: Mutation of B2 Integrins (CD11/CD18)
LAD-2: Impaired function of PSGL-1
LAD-3: Defective activation dependent signalling of B2 integrins

30
Q

Chediak-Higashi Syndrome

A

Autosomal Recessive Disorder

Wheelchair bound

Abnormal giant granules found in neutrophils
No cathepsin G and elastase in granules

SFM - Final Exam New Material (2 decks)

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