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Block 6 Exam 3 > BLI 48-49 > Flashcards

BLI 48-49 Flashcards

(47 cards)

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1
Q

Which test should be performed on a patient with N. meningitidis?

A

CH50 or CH100

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2
Q

1 yo who just learned to walk presents with Ataxia-Telangiectasia. What is the presenation traid?

A

Cerebellar ataxia

Oculocutaneous telangiectasia

Humoral & cellular immunodeficiency (low IgE and IgA)

  • leads to recurrent sinopulmonary infections

Also associated with leukemia and lymphoma

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3
Q

Presents with Hyper-IgM syndrome

Deficiency of IgG, IgA, IgE

X-linked disorder

What is the responsible cellular defect?

A

No CD40L on T-cells

Tx: IVIG

antibiotics

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4
Q

B cells don’t mature –> no mature B cells

Normal T cells

Low Ig

A

X-linked (Bruton) Agammaglobulinemia

Tx: IVIG

NO ORAL POLIO VACCINE

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5
Q

Which complement deficiency involves small immune complexes causing SLE-like syndrome

A

C1, C2, C4

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6
Q

What is the presentation triad of Wiskott-Aldrich Syndrome

A

WATER

  • Wiskott
  • Aldrich
  • Thrombocytopenic purpura

- Eczema (atopic dermatitis)

- Recurrent infections (opportunistic & encapsulated)

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7
Q

X-linked disorder of platelets and WBCs

Presents in infancy

A

Wiskott-Aldrich Syndrome

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8
Q

Abnormal neutrophil function due to microtubule dysfunction affecting phagolysosome-lysosome fusion

A

Chediak-Higashi Syndrome

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9
Q

Infant presents with excessive bleeding after circumcision. What is the plan of vaccination for this patient?

A

Wiskott-Aldrich Syndrome

NO LIVE VACCINES

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10
Q

Due to defect in ATM kinase

  • inability to assemble TCR & BCR
  • inability to repair dsDNA damage
A

Ataxia-telangiectasia

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11
Q

Treatment for SCID

A

Stem cell transplant ASAP

NO LIVE VACCINES (MMR, varicella)

NO NON-IRRADIATED BLOOD

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12
Q

Defect in Btk tyrosine kinase

A

X-linked (Bruton) Agammaglobulinemia

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13
Q

Presents in 1st decade of life

Recurrent viral infections

Normal Ab production

Also called bare lymphocyte

A

MCH Class 1 Deficiency (Bare lymphocyte)

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14
Q

Mutation on TAP1

A

MCH Class 1 Deficiency (Bare lymphocyte)

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15
Q

Glycoprotein defect

No ligands for selectins

A

LAD II

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16
Q

Both SCID and Hyper-IgM present with increased risk for PCP infection. What sets them apart in terms of presentation?

A

SCID –> chronic diarrhea, failture to thrive

Hyper-IgM –> giardia, aplastic anemia (parvo), cervical LAD

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17
Q

CD8 T cells deficient

A

MCH Class 1 Deficiency (Bare lymphocyte)

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18
Q

Patient with Hyper-IgM syndrome is at risk for infections due to what organisms?

A

Encapsulated bacteria (also Brutons)

Giardia (also Brutons, CVID)

Pneumocystis jirovecii - PCP

Parvovirus –> aplastic anemia

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19
Q

Due to defect in cytoskeletal glycoprotein

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A

Wiskott-Aldrich Syndrome

20
Q

Patient presents with C1 esterase inhibitor deficiency

Inheritance and presentation?

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A

Autosomal dominant

Hereditary angioedema (inflammation and edema due to Bradykinin)

  • Deficiency causes inability to inhibit classical pathway
21
Q

Patient presents with delayed separation of umbilical stump. Skin, mucosal, and respiratory infections do not contain pus.

Treatment?

Study These Flashcards
A

Leukocyte Adhesion Deficiency

Tx –> stem cell transplant

22
Q

What is the presentation of DiGeorge Syndrome?

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A

CATCH22

  • Cardiac anomalies
  • Abnormal facies (short philtrum, hypotelorism, mandibular hypoplasia, low-set ears)
  • Thymic aplasia
  • Cleft palate
  • Hypocalcemia
  • 22nd chromosome deletion (22q11.2)
23
Q

Presents in teenage years with non-caseating granulomas

Increased risk:

  • autoimmune
  • lymphoma
  • bronchiectasis
  • gastric CA
Study These Flashcards
A

Common Variable Immunodeficiency

24
Q

Treatment for DiGeorge Syndrome

Study These Flashcards
A

Thymic tissue transplant

25
CD4 T cells are deficient **What is the underlying problem**
MCH Class 2 Deficiency (Bare lymphocyte) Defects in transcription factors fails to put MCH II on dendritic cells, macrophages, B lymphocytes
26
In SCID due to a defect in the cytokine receptor subunit gamma-c, which IL's are responsible for: - Lose lymphocyte development: - Loose lymphocyte function:
Development: IL-7 Function: IL-2
27
The autosomal recessive form of SCID is due to what deficiency?
Adenosine deaminase deficiency
28
Most common B lymphocyte disorder Presents \> 4 yo with **celiac disease** **What other possible presentations?**
IgA Deficiency Asymptomatic Airway + GI infections Autoimmune disease Atopy Anaphylaxis to IgA Labs shown decreased IgA, all other Ig NL
29
Immunodeficiency that is a pediatric emergency
SCID
30
Two tests to diagnosis chronic granulomatous disease
Nitroblue tetrazoium test (NBT) - NL: Neutrophils turn from yellow to dark blue Dihydrorhodamine assay (DHR) - NL: increased fluorescence intensity in neutrophils
31
Which complement deficiency places patient at risk for severe recurrent infections with encapsulated bacteria
C3
32
Normal B cell development Deficient B cell differentiation Deficient in all types of Ig
Common Variable Immunodeficiency Tx: IVIG Infection specific tx
33
**Inheritance** and **genetic defect** of the most common type of SCID
X-linked Defect in gamma-chain of IL-2 Receptor
34
Abnormal neutrophil function due to NADPH oxidase deficiency
Chronic granulomatous disease
35
Which type of immunity is affected by SCID
Humoral
36
Dysmorphogenesis of 3rd and 4th pharyngeal pouches
DiGeorge Syndrome (Thymic aplasia)
37
LFA-1 integrin (CD18) defect
LAD1 - no stable adhesion
38
Absence of CD18
LAD
39
Which type of SCID is responsible for the progressive accumulation of toxic purine metabolites?
SCID 2/2 Adenosine Deaminase Deficiency
40
Presents in infancy Looks like SCID Hypogammaglobulinemeia Also called bare lymphocyte
MCH Class 2 Deficiency (Bare lymphocyte)
41
Abnormal migration of neutrophils into tissues - many neutrophils are seen in circulation
Leukocyte Adhesion Deficiency
42
\>6 mo old presents with high IgG with delayed production of IgG at 6 months Normal B & T cells Normal response to DTap **What is the treatment?**
Transient Hypogammaglobulinemia of Infancy No treatment - levels will gradually increase between 2-4 yo **May give prophylactic antibiotics**
43
Presents 6-12 months Why
X-linked (Bruton) Agammaglobulinemia Mother's IgG protects until 6 mo
44
Patient presents with neutrophil dysfunction causing lack of NK cell activity, partial oculocutaneous albinism, and microscopy reveals giant granules.
Chediak-Higashi syndrome
45
Impaired ability to kill catalase-positive organisms
Chronic granulomatous disease
46
A deficiency in which two recombinase enzymes causes SCID?
RAG-1 & RAG-2 No development of TCR's or Ig
47
Which complement deficiency causes an impairment in only MAC, and places patient at risk for infections with N. meningitidis
C5-C9

Block 6 Exam 3 (5 decks)

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