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USMLE INMUNOLOGY > CONGENITAL INMUNODEFICIENCIES > Flashcards

CONGENITAL INMUNODEFICIENCIES Flashcards

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USMLE® Step 1 flashcards
1
Q

Which is the most common way to classify Congenital Inmunodefiencies?

A

Based on whether affect:
1. T Cells
2. B Cells
3. Both

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2
Q

B Cell disorders: Features

A

Recurrent BACTERIAL infection [ENCAPSULATED]
Presents past 6 months of age

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3
Q

T Cell disorders: Features

A

Recurrent VIRAL/FUNGAL/PARASITIC infection
Presents at birth

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4
Q

Why do B-Cell disorders presents past 6 months of age?

A

Due to transmission of IgG during pregnancy and IgA during lactancy

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5
Q

X-Linked Agammaglobulinemia

A
  • Cause: Mutation in Burton’s Tyrosine Kinase (Failure of B Cells to mature)
  • Cell affected: B Cells
  • Inheritance: X-Linked
  • Decreased Igs + absent Lymphid tissue
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6
Q

Selective IgA defiency

A
  • Most common congenital inmunodeficiency
  • Isolated decrease in IgA / Normal IgM-IgG
  • Increased risk of GI/Respiratory infections (GIARDIA)
  • Increased Risk of ANAPHYLAXIS after BLOOD TRANSFUSION
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7
Q

Common Variable Inmunodefiency

A
  • B Cell disorder poorly understood
  • Decrease in B Cells and ALL Igs.
  • Debut during 20-30s
  • Increased risk of AUTOINMUNE DISEASE AND LYMPHOMA
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8
Q

DiGeorge Syndrome

A
  • Also known as Thymic Aplasia
  • T Cell disorder caused by DELETION of 22q11
  • ABSENT THYMUS + PTH GLANDS
  • Hypocalcemia (TETANIA) + ABSENT THYMIC SHADOW + Recurrent FUNGAL/VIRAL infection
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9
Q

Deletion of 22q11 leads to

A

APLASIA of 3rd and 4th PHARYNGEAL ARCH
(DiGeorge Syndrome)

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10
Q

Hyper IgE Syndrome (Job)

A
  • AUTOSOMAL DOMINANT T Cell disorder
  • Due to a STAT3 Mutation = DEFICIENT Th17 Cells
  • Inability to recruit neutrophils / INCREASED IgE
  • COARSE FACIAL FEATURES + Non inflammed abscesses + RETAINED PRIMARY TEETH + ECZEMA
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11
Q

Severe Combined Inmunodefiency

A
  • Combined T Cell and B Cell disorder
  • IL-2 Receptor mutation / Adenosine deaminase deficiency
  • FAILURE TO THRIVE + Recurrent infections (ALL KIND)
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12
Q

Severe Combined Inmunodeficiency’s inheritance pattern

A

a) IL-2 Receptor mutation: X-Linked recessive
b) Adenosine deaminase deficiency: Autosomal Recessive

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13
Q

Ataxia Telangectasia

A
  • Autosomal Recessive CANCER SYNDROME
  • MUTATION of ATM gene (Cannot repair DNA breaks)
  • ATAXIA + FTT + Angiomas + TELANGIECTASIAS
  • Decreased IgA and Increased risk of BLOOD MALIGNANCY
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14
Q

Hyper IgM Syndrome

A
  • X-Linked recessive = Deficiency of CD40L (Th Cell)
  • Increased IgM with Decrease of the rest of Ig.
  • SEVERE PYOGENIC INFECTIONS
  • Increased Risk of Pneumocystis and CMV
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15
Q

Why do IgM is increased in Hyper IgM Syndrome

A
  • Deficiency of CD40L = Impaired activation of B Cells (Deficient SECOND SIGNAL)
  • CANNOT undergo Class switching = INCREASED DEFAULT Ig (IgM)
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16
Q

Wiskott-Aldrich Syndrmoe

A
  • X-Linked = WASp gene mutation
  • Impaired T Cells + Thrombocytopenia
  • TRIAD: ECZEMA + PURPURA + RECURRENT OTITIS MEDIA
  • Increased risk of Hematologic malignancies.
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17
Q

What is WASp gene function?

A

Stabilizing ACTINE in Leukocytes and Patelets

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18
Q

Chediak Higashi Syndrome

A
  • AUTOSOMAL RECESSIVE (LYST GENE)
  • Deficient Phagosome-Lysosome fusion due to deficient MICROTUBULE POLIMERIZATION
  • GIANT GRANULES in granulocytes + Large Dysfunctional patelets
  • PANCYTOPENIA + PERIPHERAL NEUROPATHY + ALBINISM
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19
Q

Chronic Granulomatous Disease

A
  • X-Linked Rec = Defective NADPH OXIDASE
  • Abnormal Dihydrorhodamine Test or FAILURE on NITROBLUE TETRAZOLIN reduction test.
  • Increased risk of infection with CATALASE + organism (S. Aureus, Aspergillus, Pseudomona)
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20
Q

Complement disorders: Types

A
  • EARLY: C1-C4
  • TERMINAL : C5-C9
  • C1 Estearase inhibitor Deficiency
21
Q

Early Complement disorders

A
  • Increased sinus and Respiratory infections
  • Increased risk of LUPUS
  • Decreased serum complement
22
Q

Terminal Complement disorders

A
  • Increased Susceptibility to NEISSERIA infections
23
Q

C1 Estearase Inhibitor Deficiency

A

Associated to HEREDITARY ANGIOEDEMA (BRADYKININ)
Presents with Acute AIRWAY EDEMA unresponsive to treatment.

24
Q

Paroxysmal Nocturne Hemoglobinuria

A
  • Complement disorder caused by Defiency of GPI Anchor (CD55 = DCAF / CD59)
  • DARK URINE in morning + INCREASED RISK OF THROMBOSIS +PANCYTOPENIA
25
Q

Absent Lymphoid tissues is characteristic of

A

X-Linked Agammaglobulinemia (Bruton)

26
Q

Mutation in tyrosine kinase is characteristic of which Congenital Inmunodefiency?

A

X-Linked Agammaglobulinemia (Bruton)

27
Q

Which congenital inmunodefiency increases risk of anaphylaxis after blood transfusion?

A

Selective IgA deficiency

28
Q

Which is the most common inmunodeficiency?

A

Selective IgA deficiency

29
Q

Congenital Inmunodefiencies: B Cell disorders

A

X-Linked Agammaglobulinemia
Selective IgA deficiency
Common Variable Inmunodeficiency

30
Q

Which Congenital Inmunodeficiency associates with increased GIARDIA infection?

A

Selective IgA deficiency

31
Q

Which Congenital Inmunodeficiency present during 20s-30s years

A

Common Variable Inmunodeficiency

32
Q

Common Variable Inmunodeficiency is associated with increased risk of

A

Autoinmune Disorders and Lymphoma

33
Q

Congenital Inmunodeficiency that goes with absent thymic shadow

A

DiGeorge Syndrome

34
Q

Which Congenital Inmunodeficiency is associated with Hypocalcemia? Why?

A

DiGeorge Syndrome / Absent PTH glands

35
Q

Which inmunodefiency is associated with RETAINED PRIMARY TEETH and COARSE FACIAL FEATURES

A

Job Syndrome (Hyper IgE)

36
Q

Which Congenital Inmunodeficiency follow a Autosomal Dominant inheritance pattern

A

Hyper IgE Syndrome

37
Q

STAT 3 mutation is associated with

A

Hyper IgE Syndrome = Deficient Th17

38
Q

Which congenital inmunodeficiency is associated with IL-2 receptor mutation or Adenosine deaminase deficiency

A

Severe Combined Inmunodeficiency

39
Q

Which congenital inmunodeficiency go with Failure To Thrive

A

Severe Combined Inmunodeficiency

40
Q

Which Congenital Inmunodeficiencies affect T Cells?

A

DiGeorge Syndrome
Hyper IgE Syndrome

41
Q

ATM mutation is characteristic of which inmunodeficiency

A

Ataxia Telangiectasia

42
Q

CD40L deficiency is associated with

A

Hyper IgM Syndrome

43
Q

Which congenital inmunodeficiency go with the triad:
ECZEMA + PURPURA + RECURRENT OTITIS

A

Wiskott Aldrich Syndrome

44
Q

Which congenital inmunodeficiency is associated with LYST mutation

A

Chediak Higashi Syndrome

45
Q

Which congenital inmunodeficiencies are mixed?

A

Hyper IgM Syndrome
Wiskott-Aldrich Syndrome
Severe Combined Inmunodeficiency

46
Q

Which Congenital Inmunodeficiency fails to turn BLUE in Nitroblue Tetrazolin Reduction Test

A

Chronic Granulomatous disease

47
Q

Defective NADPH Oxidase is characteristic of

A

Chronic Granulomatous disease

48
Q

Inefficicent Phagosome/Lysosome fusion is feature of

A

Chediak Higashi Syndrome

USMLE INMUNOLOGY (11 decks)

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