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Kendig > Primary Immunodeficiency And Diseases With Immune Dysregulation > Flashcards

Primary Immunodeficiency And Diseases With Immune Dysregulation Flashcards

1
Q

Characterized by recurrent infections, low-grade pathogens, abscesses and supportive granulomas, and normal humoral and cellular immunity

A

Chronic granulomatous disease

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2
Q

Usual onset of symptoms of CGD

A

First 2 years of life

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3
Q

Usual outcome of CGD if not treated

A

Death from overwhelming infection

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4
Q

Pathophysiology of CGD

A

Inability of phagocytes cells to kill ingested bacteria
CGD neutrophils do not undergo “respiratory burst”, are not cleared by macrophage, release toxic constituents to tissues
Decreased oxidase activity (reduction of O2 to superoxide by NADPH)

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5
Q

Hallmark of CGD

A

Purulent inflammation due to catalase-positive, low-grade pyogenic bacteria

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6
Q

Most common pattern of inheritance of CGD

A

X-linked recessive

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7
Q
A
  1. Inability of phagocytic cells to effect microbicidal activity at the interface between host and environment leads to infections such as pneumonitis, infectious dermatitis, perianal abscesses
  2. Deep seated infections result in pediment lymphadenitis, hepatomegaly, splenomegaly, and hepatic and perihepatic abscesses
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8
Q

Most common clinical finding in CGD

A

Marked lymphadenopathy - chronic, supportive, granulomatous, usually in cervical, axillary and inguinal

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9
Q

Sweet’s syndrome

A

Acute febrile neutrophilic dermatosis associated with CGD

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10
Q

Other non-infectious related inflammatory responses in CGD

A

Pyloric stenosis with sterile granulomas at pyloric antrum
Eosinophilic gastroenteritis
GI dysmotility
IBD
Obstructive uropathy
Pericarditis
Pleuritis
Chorioretinitis

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11
Q

Most common pulmonary complication of CGD

A

Pneumonia

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12
Q

Most common organism isolated in CGD pneumonia

A

Aspergillus

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13
Q

Other pulmonary complications of CGD

A

Chronic granulomatous infiltrations
BO
Fibrosis
Bronchiectasis
ILD
Sarcoidosis

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14
Q

Pulmonary lesions on CXR in CGD

A

Extensive infiltration of lung parenchyma
Prominent hilar adenopathy

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15
Q

Unusual manifestation of pulmonary disease in CGD

A

Encapsulated pneumonia - homogeneous, discrete, relatively round lesion, with caseating granuloma; may mimic miliary TB

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16
Q

Laboratory findings of CGD

A

Acute or chronic infection and inflammation:
Leukocytosis with neutrophilia
Elevated ESR, CRP
Anemia of chronic inflammation - not due to low stores but due to diminished release and utilisation of iron

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17
Q

Immune screening findings of CGD

A

Deficiency in microbicidal activity against catalase-positive bacteria
Absent respiratory burst
Polyclonal hypergammaglobulinemia

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18
Q

Most common infections in CGD

A

S. aureus
Serratia and other gram negative
Aspergillus
B. cepacia

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19
Q

Biopsy of CGD

A

Granulomas with mononuclear phagocytes that contain a tan or yellow pigmented material

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20
Q

Screening tests for CGD

A

Nitroblue tetrazolium test (NBT): stimulates respiratory burst to reduce O2 to superoxide, nonreactive in CGD
Flow cytometry: increased fluorescence in respiratory burst

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21
Q

Confirmatory tests for CGD

A

Bactericidal assays for E. coli or S. aureus
Quantitative assays of O2, superoxide, generation of H2O2
Western blot for cytochrome B558
Genetic testing

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22
Q

Main catalytic component of oxidase

A

Cytochrome b558 - binds NADPH

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23
Q

Four major components of oxidase

A

gp91phox
p47phox
p22phox
P67phox

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24
Q

Most common molecular defects in CGD

A

gp91phox (X-linked recessive)

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25
Q

Findings in gp91phox

A

Absent NADPH oxidase activity
No cytochrome b558
No gp91phox on Western blot

26
Q

Findings in ph22phox

A

Lack of respiratory burst
No cytochrome b558
No ph22phox, gp91phox

27
Q

Management of CGD

A

Prophylaxis: cotrimoxazole (4-5/20-25) or ciprofloxacin, IFN gamma SC injections, daily itraconazole
Surgical drainage

Aggressive antibiotic: empiric then culture-guided
Vancomycin or levofloxacin for liver abscess (S. aureus)
Increased TMP/SMX + cephalosporin, meropenem or levofloxacin for lung (B. cepacia) and skin/bones (Serratia)
Amphotericin, itraconazole, voriconazole for fungal
Prednisone for miliary
Granulocyte transfusions

Others:
Stem cell
Gene therapy

28
Q

Causes chronic hemolytic anemia in CGD

A

Lack of Kell antigen

29
Q

Age of onset of CVID

A

5-10 years or adolescence

30
Q

CVID is characterized by:

A

Decreased IgG
Low IgA and IgM
Weak/absent antibody response to immunization
Absence of other immunodeficiency state

31
Q

Most common infections in CVID

A

Bronchitis
Sinusitis
Otitis media

32
Q

Microorganisms most commonly cultured in CVID before diagnosis

A

Organisms that require antibody for optimal opsonization and phagocytosis:
Pneumococcus
H. influenzae
Streptococci

33
Q

Microorganisms cultured after IVIg in CVID

A

Staphylococci
Enteric pathogen
Fungi
Virus
Protozoa
Mycoplasma

34
Q

Other manifestations of CVID

A

Growth retardation
GI disease (chronic diarrhea)
Autoimmune (hemolytic anemia, thrombocytopenic purpura)
Malignancies

35
Q

Pulmonary complications of CVID

A

CLD (Bronchiectasis, restrictive/obstructive lung disease)

36
Q

Common noninfectious pulmonary disease in adolescence

A

GLILD (granulomatous lymphocytic interstitial lung disease):
Granulomatous lung disease
LIP
Follicular bronchiolitis
Lymphoid hyperplasia

*high risk for B-cell lymphoma and early mortality

37
Q

Laboratory findings of CVID

A

IgG, IgA, IgM 2 standard deviations below normal
Abnormal response to protein and polysaccharide vaccines
Usually normal numbers of B and T lymphocyte but may have abnormal function

38
Q

Transient hypogammaglobulinemia of infancy disappears by:

A

24 months

39
Q

Genetic defects associated with CVID

A

ICOS
TACI
BAFF-R

40
Q

Management of CVID

A

Immunization (may not be useful but recommended)
Culture-guided treatment
Acute exacerbations of bronchiectasis/sinusitis: coamoxiclav, cephalosporin, fluoroquinolone (except ciprofloxacin) for 2-4 weeks; consider ICS
Immunoglobulin replacement every 3-4 weeks
Splenectomy, steroid, rituximab food cytopenias

41
Q

Most common B-cell immunodeficiencies

A

Primary B-cell immunodeficiencies with antibody deficiency

42
Q

Examples of B-cell immunodeficiencies

A

Mild:
Transient hypogammaglobulinemia of infancy
Selective IgA deficiency
IgG subclass deficiency
Specific antibody deficiency

Severe:
CVID
Agammaglobulinemia

43
Q

Age of onset of XLA

A

3-6 months, when maternal IgG declines

44
Q

Treatment of antibody deficiency

A

IgG substitition
Antibiotic prophylaxis and therapy
Prevention of bronchiectasis

45
Q

Combined cellular and humoral immunodeficiency that is a medical emergency

A

SCID

46
Q

Age of onset of SCID

A

1 year old

47
Q

CXR of SCID

A

Absent thymic shadow

48
Q

Clinical presentation of SCID

A

Lymphopenia, hypogammaglobulinemia
Recurrent pneumonia with P. jirovecii, PIV, RSV, CMV, adenovirus or bacteria
Chronic diarrhea, failure to thrive, oral thrush, diaper rash

49
Q

Costochondral junction flaring on CXR

A

ADA (adenosine deaminase) deficiency

50
Q

Treatment for SCID

A

Prevention of infection
IgG replacement
HSCT
Enzyme replacement for ADA deficiency
Bone marrow transplant

51
Q

Defect in ataxia telangectasia

A

Defective DNA repair

52
Q

Pulmonary manifestations of AT

A

Recurrent RTI
Bronchiectasis
ILD
Aspiration due to weak cough

53
Q

Poor prognostic factor in AT

A

ILD

54
Q

Management of AT

A

Antibiotic
IgG replacement
Airway clearance techniques
Supplemental O2
OCS in ILD
Regular LFT (RLD)

55
Q

Common features of Hyper-IgE-Syndromes (HIES)

A

Elevated serum IgE
Eosinophilia
Eczema
Sinopulmonary infections

56
Q

Autosomal dominant HIES or Job syndrome presents with:

A

Recurrent bacterial pneumonia (S. aureus with pneumatocele)

Pustular rash
Skeletal, connective tissue, vascular abnormalities
Retained primary teeety
Recurrent fractures

57
Q

Other HIES

A

DOCK8 deficiency - cutaneous viral infections, pulmonary infections, bronchiectasis
Tyk2 deficiency - mycobacterial infections
PGM3 deficiency - bronchiectasis

58
Q

Treatment of HIES

A

Supportive
S. aureus decolonization
IgG replacement
HSCT

59
Q

Innate immune system deficiencies

A

Early complement deficiency (C1-C4) - pyogenic infections, recurrent pneumonia similar to antibody deficiency

60
Q

Complement screening for recurrent and severe RTI with normal cellular and humoral immunity

A

CH50, AH50
MBL serum concentration

Kendig (8 decks)

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