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Immunodeficiencies Flashcards

1
Q

Most severe antibody deficiency syndrome

A

Agammaglobulinemia

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2
Q

Only antibody deficiency in which B cells are few or absent <2%

A

Agammaglobulinemia

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3
Q

The commonest form of agammaglobulinemia

A

X LA

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4
Q

X linked agammaglobulinemia involves mutation in

A

Bruton tyrosine kinase gene

Btk gene

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5
Q

Noted after 6 months of age when maternal antibodies are depleted

A

Agammaglobulinemia

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6
Q

Agammaglobulinemia is failure of

A

b cell precursors PRO-B and PRE-B cells to develop into mature B cells

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7
Q

Profound defect in B lymphocyte development

A

Agammaglobulinemia

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8
Q 
Streptococcus
Pneumococcus
Staphylococci
Poliovirus
Cocksakie virus
A

Predisposed in Bruton’s Agammaglobulinemia

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9
Q

Male
Deficient tyrosine kinase

No or small tonsil
Absent B cell
Absent plasma cell
Absent Igs
Absent antibody formation
A

X linked Agammaglobulinemia

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10
Q

Tx for Agammaglobulinemia

A

IVIg

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11
Q

Most common well defined primary immunodeficiency

A

Selective IgA deficiency

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12
Q 
1:300
Abnormal switch defect
Recurrent ear, sinus, lung infections
Allergy, autoimmune diseases (DM, RA)
Malignancy

Healthy

A

Selective IgA Deficiency

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13
Q

Selective IgA Deficiency Dx

Tx:

A

IgA <10 mg/dl (serum and secretory)
IgG, IgM, IgE Normal

Antibiotic

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14
Q

Impaired differentiation of naive B lymphocytes to IgA producing cells

A

Selective IgA deficiency

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15
Q

Selective IgA deficiency has weakened

A

mucosal defenses
(respiratory, GI, urogenital)
saliva, sweat, urine, secretion

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16
Q

Infancy with onset of distinct neonatal rash

Furunculosis, staph, pneumonia, cadidiasis

A

Hyper IgE syndrome HERIS

Job’s Syndrome

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17
Q

Classic of staphylococcal pneumonia in xray

A

Pneumatocoele

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18
Q

Pneumatocoele is caused by the toxin

A

Panton Valentin Leukocidin (PVL)

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19
Q

Consistent finding in Hyper IgE

A

Eosinophilia
Total serum IgE: 2000 IU/ml
Defect in chemotaxis

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20
Q

Results from dysmorphogenesis of 3rd and 4th pharyngeal pouch during early embryogenesis

Variable hypoplasia of the thymus and parathyroid gland

A

Thymic hypoplasia

DiGeorge Syndrome

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21
Q

Ca levels in thymic hypoplasia

A

decreased serum calcium

hypocalcemia

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22
Q

Hypocalcemia manifests as

A

Spasm/tetany

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23
Q

Thymic hypoplasia presents with

A

Absent cell mediated immunity (CMI) low T cell count

Poor defense against viral and fungal infection

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24
Q

DiGeorge Syndrome is brought about by deletion of chromosome

A

ch22q11

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25
Q

CATCH 22 syndrome

A 
Cardiac
Abnormal facie
Thymic hypoplasia
Cleft palate
Hypocalcemia

Partial/incomplete thymic hypoplasia

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26
Q

Thymic hyoplasia
DiGeorge Syndrome

may present with

A

Tetany

Congenital defects of heart and great vessels

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27
Q

Problem with both B and T cell

A

SCID

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28
Q

Defects in both humoral and cell mediated immune response

Thrush
Extensive diaper rash
Failure to thrive

A

Severe Combined Immunodeficiency

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29
Q

Death occurs in this year of patients with SCID

30
Q

Deficiency of this enzyme accounts for 15% of patients with this problem

Toxic metabolites of purine pathway accumulate in lymph cells and impair proliferation or lead to apoptosis (deoxyATP, deoxyadenosine, methyladenosine)

A

Adenosine Deaminase Deficiency

31
Q

Forms of SCID

A

X linked (Cytokine-Signaling Deficiency)

ADA Deficiency

32
Q

Most frequent phenotype of SCID

A

X linked Cytokine Signalling Deficiency

50-60% of cases

33
Q

X linked Cytokine Signalling Deficiency SCID involves absence of

A

T cell and NK cells

34
Q

10-20% of cases
Lymphopenia occurs from death of T and B cells

Accumulates deoxyadenosine leading apoptosis

A

ADA deficiency

35
Q

Multisystemic presentation

Lymphocytopenia is strongly suggestive

absence of thymic shadow on chest xray

36
Q

Characteristic finding of ADA deficiency

A

Profound lymphopenia <500/mm3

Multiple skeletal abnormalities of chondro-osseous dysplasia

37
Q

Mainstay of tx for SCID

A

Bone marrow transplant

Gene therapy

38
Q

Immunodeficiency
Thrombocytopenia
Eczema
Recurrent infection

X linked recessive

A

Wiskott-Aldrich Syndrome

ITER

39
Q

Prolonged bleeding from the circumcision site or bloody diarrhea during infancy

Atopic dermatitis, recurrent infection occuring during the 1st year of life

A

Wiskott-Aldrich Syndrome

40
Q

Wiskot-Aldrich Syndrome Dx

A

High IgE, IgA
Low IgM
Normal IgG

High VOWELS
Low IgM

Wiskott - Whiskey
IgM mental state — LOW
IgA + IgE — high

41
Q

gene involved in neuronal Wiskott-Aldrich Syndrome protein

42
Q

Petechiae due to thrombocytopenia
Eczema
Pneumonia
B cell lymphoma and other cancer

A

Wiskott-Aldrich Syndrome

43
Q

Wiskott-Aldrich Syndrome Tx

A

IVIg
Killed vaccine

Aggressive management of eczema and cutaneous infection

Platelet transfusion bone marrow or cord blood transplantation (treatment of choice and may be curative)

44
Q 
Skin infection
Mucosal infection
Periodontal disease
Sepsis
Susceptibility to catalase + bacteria, gram negative bacteria (CGD)
Delayed umbilical cord separation (LAD)
A

Phagocytic disorders

45
Q

Phagocytic disorder examples

A

Chronic Granulomatous Disease (CGD)
Job’s Syndrome (Hyper IgE syndrome)
Leukocyte Adhesion Deficiency (LAD)

46
Q

Due to negative or low adhesive glycoprotein receptors on leukocytes

Impaired leukocyte invasion

Delayed separation of umbilical cord, impaired wound healing, decreased pus formation, gingivitis, cellulitis, necrotic abscess

A

Leukocyte Adhesion Deficiency

LAD

47
Q

LAD Dx

A

Persistent neutrophilia

Rebuck skin window test

48
Q

LAD Tx

A

Bone marrow transplant

49
Q 
Delayed separation of umbilical cord
Impaired wound healing
Decreased pus formation
Gingivitis
Cellulitis
Necrotic abscess
A

Leukocyte Adhesion Deficiency

50
Q

Group of disorders affecting granulocyte and monocyte oxidative metabolism

Inherited as X linked recessive

A

Chronic Granulomatous Disease

51
Q

30% of CGD is inherited in this pattern

A

Autosomal recessive

52
Q

Chronic Granulomatous Disease involves a deficiency in the enzyme

A

NADPH oxidase

53
Q

Deficiency in NADPH oxidase brings about defective

A

killing of catalase + organism

54
Q

Chronic Granulomatous Disease Dx

A
  • Nitrobluetetrazolium test
55
Q

Chronic Granulomatous Disease Tx

A

Antibiotics

IFN Y

56
Q

Causes by defective production of ROS in phagolysosome membrane following phagocytosis of microorganism

A

Chronic Granulomatous Disease

57
Q

Directly kills engulfed microorganisms or enable the rise in pH needed to activate the phagosomal proteases that contribute to killing of microbes

A

Reactive Oxygen Species

58
Q

Leukocytes of patients with CGD have

A

severely diminished hydrogen peroxide production

59
Q

Catalase positive organisms:

A

Microorganisms that destroy their own hydrogen peroxide

Staphylococcus aureus
Burkholderia cepacia
Aspergillus spp
Chromobacterium violaceum

60
Q

Impaired killing of intracellular organism by macrophages may lead to persistent cell mediated immune activation and granuloma formation

A

Chronic Granulomatous Disease

61
Q

CGD Leads to collection of activated macrophages that wall of microbes forming aggregates called

62
Q

CGD Dx

A

Assays of ROS production in neutrophil and monocyte:

Dihydrorhodamine fluoresence assay DHR
Nitroblue tetrazolium assay NBT
Immunoblot for NADPH oxidase component

63
Q

Management of Phagocytic Disorders

A

Prophylactic antibiotics

IFN Y for CGD

64
Q

Tx of Chronic Granulomatous Disease mostly relies on preventing infection:

A

Trimethoprim Sulfamethoxazole

65
Q

WOF for TMP SMZ rx

A

Steven Johnson Syndrome

66
Q

Daily admin of this drug reduces the frequency of fungal complications

A

Itraconazole (azole derivatives)

67
Q

Autosomal Recessive

Increased susceptibility to infection owing to DEFECTIVE DEGRANULATION of neutrophils

Defect in microtubule function preventing fusion of lysosome with phagosome

A

Chediak Higashi Syndrome

68
Q

Mild bleeding Diathesis

Albinism, partial oculocutaneous

Progressive Peripheral Neuropathy

Tendency to develop a life threatening lymphoma like syndrome

A

Chediak Higashi Syndrome

69
Q

Silverish coloring of hair and skin
Hypopigmentation

Tx: prophylactic antibiotic

A

Chediak Higashi Syndrome

70
Q

Catalase Positive Organisms

A 
Staphylococci
Candida
E Coli
Pseudomonas
Aspergillus
H pylori
Nocardia
Listeria
Serratis
B cepacia

Physiology (23 decks)

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