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Block 6 Exam 3 > BLI 48-49 > Flashcards

BLI 48-49 Flashcards

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

A

Wiskott-Aldrich Syndrome

20
Q

Patient presents with C1 esterase inhibitor deficiency

Inheritance and presentation?

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?

A

Leukocyte Adhesion Deficiency

Tx –> stem cell transplant

22
Q

What is the presentation of DiGeorge Syndrome?

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
A

Common Variable Immunodeficiency

24
Q

Treatment for DiGeorge Syndrome

A

Thymic tissue transplant

25
Q

CD4 T cells are deficient

What is the underlying problem

A

MCH Class 2 Deficiency (Bare lymphocyte)

Defects in transcription factors fails to put MCH II on dendritic cells, macrophages, B lymphocytes

26
Q

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:
A

Development: IL-7

Function: IL-2

27
Q

The autosomal recessive form of SCID is due to what deficiency?

A

Adenosine deaminase deficiency

28
Q

Most common B lymphocyte disorder

Presents > 4 yo with celiac disease

What other possible presentations?

A

IgA Deficiency

Asymptomatic

Airway + GI infections

Autoimmune disease

Atopy

Anaphylaxis to IgA

Labs shown decreased IgA, all other Ig NL

29
Q

Immunodeficiency that is a pediatric emergency

A

SCID

30
Q

Two tests to diagnosis chronic granulomatous disease

A

Nitroblue tetrazoium test (NBT)

  • NL: Neutrophils turn from yellow to dark blue

Dihydrorhodamine assay (DHR)

  • NL: increased fluorescence intensity in neutrophils
31
Q

Which complement deficiency places patient at risk for severe recurrent infections with encapsulated bacteria

A

C3

32
Q

Normal B cell development

Deficient B cell differentiation

Deficient in all types of Ig

A

Common Variable Immunodeficiency

Tx: IVIG

Infection specific tx

33
Q

Inheritance and genetic defect of the most common type of SCID

A

X-linked

Defect in gamma-chain of IL-2 Receptor

34
Q

Abnormal neutrophil function due to NADPH oxidase deficiency

A

Chronic granulomatous disease

35
Q

Which type of immunity is affected by SCID

A

Humoral

36
Q

Dysmorphogenesis of 3rd and 4th pharyngeal pouches

A

DiGeorge Syndrome (Thymic aplasia)

37
Q

LFA-1 integrin (CD18) defect

A

LAD1

  • no stable adhesion
38
Q

Absence of CD18

A

LAD

39
Q

Which type of SCID is responsible for the progressive accumulation of toxic purine metabolites?

A

SCID 2/2 Adenosine Deaminase Deficiency

40
Q

Presents in infancy

Looks like SCID

Hypogammaglobulinemeia

Also called bare lymphocyte

A

MCH Class 2 Deficiency (Bare lymphocyte)

41
Q

Abnormal migration of neutrophils into tissues - many neutrophils are seen in circulation

A

Leukocyte Adhesion Deficiency

42
Q

>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?

A

Transient Hypogammaglobulinemia of Infancy

No treatment - levels will gradually increase between 2-4 yo

May give prophylactic antibiotics

43
Q

Presents 6-12 months

Why

A

X-linked (Bruton) Agammaglobulinemia

Mother’s IgG protects until 6 mo

44
Q

Patient presents with neutrophil dysfunction causing lack of NK cell activity, partial oculocutaneous albinism, and microscopy reveals giant granules.

A

Chediak-Higashi syndrome

45
Q

Impaired ability to kill catalase-positive organisms

A

Chronic granulomatous disease

46
Q

A deficiency in which two recombinase enzymes causes SCID?

A

RAG-1 & RAG-2

No development of TCR’s or Ig

47
Q

Which complement deficiency causes an impairment in only MAC, and places patient at risk for infections with N. meningitidis

A

C5-C9

Block 6 Exam 3 (5 decks)

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