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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
Findings in gp91phox
Absent NADPH oxidase activity No cytochrome b558 No gp91phox on Western blot
26
Findings in ph22phox
Lack of respiratory burst No cytochrome b558 No ph22phox, gp91phox
27
Management of CGD
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
Causes chronic hemolytic anemia in CGD
Lack of Kell antigen
29
Age of onset of CVID
5-10 years or adolescence
30
CVID is characterized by:
Decreased IgG Low IgA and IgM Weak/absent antibody response to immunization Absence of other immunodeficiency state
31
Most common infections in CVID
Bronchitis Sinusitis Otitis media
32
Microorganisms most commonly cultured in CVID before diagnosis
Organisms that require antibody for optimal opsonization and phagocytosis: Pneumococcus H. influenzae Streptococci
33
Microorganisms cultured after IVIg in CVID
Staphylococci Enteric pathogen Fungi Virus Protozoa Mycoplasma
34
Other manifestations of CVID
Growth retardation GI disease (chronic diarrhea) Autoimmune (hemolytic anemia, thrombocytopenic purpura) Malignancies
35
Pulmonary complications of CVID
CLD (Bronchiectasis, restrictive/obstructive lung disease)
36
Common noninfectious pulmonary disease in adolescence
GLILD (granulomatous lymphocytic interstitial lung disease): Granulomatous lung disease LIP Follicular bronchiolitis Lymphoid hyperplasia *high risk for B-cell lymphoma and early mortality
37
Laboratory findings of CVID
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
Transient hypogammaglobulinemia of infancy disappears by:
24 months
39
Genetic defects associated with CVID
ICOS TACI BAFF-R
40
Management of CVID
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
Most common B-cell immunodeficiencies
Primary B-cell immunodeficiencies with antibody deficiency
42
Examples of B-cell immunodeficiencies
Mild: Transient hypogammaglobulinemia of infancy Selective IgA deficiency IgG subclass deficiency Specific antibody deficiency Severe: CVID Agammaglobulinemia
43
Age of onset of XLA
3-6 months, when maternal IgG declines
44
Treatment of antibody deficiency
IgG substitition Antibiotic prophylaxis and therapy Prevention of bronchiectasis
45
Combined cellular and humoral immunodeficiency that is a medical emergency
SCID
46
Age of onset of SCID
1 year old
47
CXR of SCID
Absent thymic shadow
48
Clinical presentation of SCID
Lymphopenia, hypogammaglobulinemia Recurrent pneumonia with P. jirovecii, PIV, RSV, CMV, adenovirus or bacteria Chronic diarrhea, failure to thrive, oral thrush, diaper rash
49
Costochondral junction flaring on CXR
ADA (adenosine deaminase) deficiency
50
Treatment for SCID
Prevention of infection IgG replacement HSCT Enzyme replacement for ADA deficiency Bone marrow transplant
51
Defect in ataxia telangectasia
Defective DNA repair
52
Pulmonary manifestations of AT
Recurrent RTI Bronchiectasis ILD Aspiration due to weak cough
53
Poor prognostic factor in AT
ILD
54
Management of AT
Antibiotic IgG replacement Airway clearance techniques Supplemental O2 OCS in ILD Regular LFT (RLD)
55
Common features of Hyper-IgE-Syndromes (HIES)
Elevated serum IgE Eosinophilia Eczema Sinopulmonary infections
56
Autosomal dominant HIES or Job syndrome presents with:
Recurrent bacterial pneumonia (S. aureus with pneumatocele) Pustular rash Skeletal, connective tissue, vascular abnormalities Retained primary teeety Recurrent fractures
57
Other HIES
DOCK8 deficiency - cutaneous viral infections, pulmonary infections, bronchiectasis Tyk2 deficiency - mycobacterial infections PGM3 deficiency - bronchiectasis
58
Treatment of HIES
Supportive S. aureus decolonization IgG replacement HSCT
59
Innate immune system deficiencies
Early complement deficiency (C1-C4) - pyogenic infections, recurrent pneumonia similar to antibody deficiency
60
Complement screening for recurrent and severe RTI with normal cellular and humoral immunity
CH50, AH50 MBL serum concentration

Kendig (8 decks)

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