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Hematopoietic stem cell transplant > Immunology > Flashcards

Immunology Flashcards

1
Q

Hyper-IGM syndrome:

  • What is the immunodeficiency?
  • Describe the phenotype
A 
Combined B and T cell deficiency; no immunoglobulin class switching
Recurrent bacterial infections, opportunistic infections (PJP, histoplasmosis, cryptosporidium)
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2
Q

Hyper-IgM syndrome: underlying gene defect and inheritance

A

CD40 ligand gene

XL

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3
Q

Hyper-IgM syndrome: treatment

A

HSCT

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4
Q

Wiskott-Aldrich syndrome:

  • Associated mutation
  • Inheritance
A
  • WAS gene, encoding WASP

- XL

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5
Q

Describe the immunodeficiency reported with WAS

A

Combined T and B (usually worse) defect
T: abnormal proliferation to antigen and mitogen
B: decreased production of specific antibody; classically lacks responses to carbohydrates

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6
Q

What is the classic triad of WAS?

A
  • Immunodeficiency
  • Microthrombocytopenia (typically have bloody diarrhea)
  • Eczema
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7
Q

What infections are commonly seen in WAS?

A
  • Recurrent otitis media and sinopulmonary infections
  • Staphylococcal skin superinfection
  • Opportunistic infections
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8
Q

What manifestations of auto-immunity are often seen in WAS?

A
  • ITP, AIHA
  • IBD
  • Glomerulonephritis
  • Vasculitis
  • Dysimmunity: lymphoma, often EBV related
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9
Q

What are possible mechanisms to explain the presence of Wiskott-Aldricht syndrome in a female?

A
  • Extreme lyonization of the mutant X chromosome
  • Random X chromosome inactivation
  • WAS mutations on both chromosomes
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10
Q

Management of Wiskott-Aldricht syndrome

A
  • HSCT (ideally with MSD)
  • Pre-transplant: regular infusions of IVIG, antibiotic prophylaxis, cautious use of safe blood product (CMV safe, irradiated)
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11
Q

Name 3 SCID syndromes that are T-B-

A
  1. ADA deficiency (NK-)
  2. RAG1, RAG2 deficiency (NK+)
  3. Artemis syndrome

(All are AR)

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12
Q

Name 3 SCID syndromes that are T-B+

A
  1. JAK3 mutation
  2. IL7R alpha chain
  3. Cytokine common gamma chain
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13
Q

Describe the laboratory findings in SCID (4 features)

A

Usually decreased ALC (not always, since B cells can be normal)
Severely decreased IgA, IgG, IgM
Absent T cells on lymphocyte immunophenotyping (occasionally, some maternal T-cells can be seen)
Absent mitogen proliferation

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14
Q

Describe the management of SCID (6 features)

A
  • Urgent referral for allogeneic HSCT
  • Protection against infections
  • PJP prophylaxis
  • Aggressive diagnosis and treatment of infections
  • IVIG replacement
  • If blood transfusion required, CMV (-)ve and irradiated
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15
Q

Describe the management of ALPS?

A
  • Mainstay of treatment: immunosuppression with steroids, sirolimus, MMF, etc.
  • Monitoring for development of lymphoproliferation
  • HSCT if very severe, refractory cases
  • Avoid splenectomy; increased risk of infection and cytopenias usually improve over time
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16
Q

Criteria ALPS

A

Required
1. Chronic (at least 6 months), nonmalignant, noninfectious lymphadenopathy and/or splenomegaly
2. Elevated CD3 TCR+ CD4-CD8- (DNT) cells (at least 1.5% of total lymphocytes or 2.5% of CD3 lymphocytes) in the setting of normal or elevated lymphocyte counts
Accessory
Primary
1. Defective lymphocyte apoptosis (in 2 separate assays)
2. Somatic or germline pathogenic mutation in FAS, FASLG, or CASP10
Secondary
1. Elevated plasma sFASL levels OR elevated plasma
interleukin-10 levels OR elevated serum or plasma vitamin B12 levels OR elevated plasma interleukin-18 levels
2. Typical immunohistological findings
3. Autoimmune cytopenias (hemolytic anemia, thrombocytopenia, or neutropenia) AND elevated immunoglobulin G levels (polyclonal hypergammaglobulinemia)
4. Family history

17
Q

Typical mutations seen in ALPS (4)

A
  • FAS
  • FASLG
  • CASP8 (not part of the official criteria)
  • CASP10
18
Q

Name 3 hematological effects of HIV/AIDS

A
  • Anemia
  • Thrombopenia
  • Neutropenia
  • Immune dysfunction, including CD4 T-cells depletion, hyperactivation of B cells and hypergammaglobulinemia
19
Q

Name principal malignancies associated with HIV/AIDS

A
  • NHL (systemic or primary CNS)
  • Leiomyosarcoma and leiomyoma (mostly children)
  • ALL
  • Kaposi’s sarcoma (mostly adults)
20
Q

Name 3 AIDS defining malignancies and their associated virus

A
  • Invasive cervical cancer (adults) - HPV
  • Kaposi sarcoma - HHV6
  • Lymphoma - EBV
  • most common subtypes: Burkitt, immunoblastic, primary CNS lymphoma
21
Q

XLP: affected gene

A

SH2D1A gene (lack of expression of SAP protein)

22
Q

Difference between the CBC in infants comapred to older children?

A

Higher ALC (mostly 2nd to CD3+ and CD19+ cells)

23
Q

Normal values for ALC in infants?

A

3500-7500

Values less than 1000-2000 are highly suspicious for SCID

Hematopoietic stem cell transplant (2 decks)

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