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Immunodeficiencies Flashcards

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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
CATCH 22 syndrome
``` Cardiac Abnormal facie Thymic hypoplasia Cleft palate Hypocalcemia ``` Partial/incomplete thymic hypoplasia
26
Thymic hyoplasia DiGeorge Syndrome may present with
Tetany | Congenital defects of heart and great vessels
27
Problem with both B and T cell
SCID
28
Defects in both humoral and cell mediated immune response Thrush Extensive diaper rash Failure to thrive
Severe Combined Immunodeficiency
29
Death occurs in this year of patients with SCID
Year 1
30
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)
Adenosine Deaminase Deficiency
31
Forms of SCID
X linked (Cytokine-Signaling Deficiency) ADA Deficiency
32
Most frequent phenotype of SCID
X linked Cytokine Signalling Deficiency 50-60% of cases
33
X linked Cytokine Signalling Deficiency SCID involves absence of
T cell and NK cells
34
10-20% of cases Lymphopenia occurs from death of T and B cells Accumulates deoxyadenosine leading apoptosis
ADA deficiency
35
Multisystemic presentation Lymphocytopenia is strongly suggestive absence of thymic shadow on chest xray
SCID
36
Characteristic finding of ADA deficiency
Profound lymphopenia <500/mm3 | Multiple skeletal abnormalities of chondro-osseous dysplasia
37
Mainstay of tx for SCID
Bone marrow transplant | Gene therapy
38
Immunodeficiency Thrombocytopenia Eczema Recurrent infection X linked recessive
Wiskott-Aldrich Syndrome | ITER
39
Prolonged bleeding from the circumcision site or bloody diarrhea during infancy Atopic dermatitis, recurrent infection occuring during the 1st year of life
Wiskott-Aldrich Syndrome
40
Wiskot-Aldrich Syndrome Dx
High IgE, IgA Low IgM Normal IgG High VOWELS Low IgM Wiskott - Whiskey IgM mental state — LOW IgA + IgE — high
41
gene involved in neuronal Wiskott-Aldrich Syndrome protein
N-WASP
42
Petechiae due to thrombocytopenia Eczema Pneumonia B cell lymphoma and other cancer
Wiskott-Aldrich Syndrome
43
Wiskott-Aldrich Syndrome Tx
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
``` Skin infection Mucosal infection Periodontal disease Sepsis Susceptibility to catalase + bacteria, gram negative bacteria (CGD) Delayed umbilical cord separation (LAD) ```
Phagocytic disorders
45
Phagocytic disorder examples
Chronic Granulomatous Disease (CGD) Job’s Syndrome (Hyper IgE syndrome) Leukocyte Adhesion Deficiency (LAD)
46
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
Leukocyte Adhesion Deficiency | LAD
47
LAD Dx
Persistent neutrophilia | Rebuck skin window test
48
LAD Tx
Bone marrow transplant
49
``` Delayed separation of umbilical cord Impaired wound healing Decreased pus formation Gingivitis Cellulitis Necrotic abscess ```
Leukocyte Adhesion Deficiency
50
Group of disorders affecting granulocyte and monocyte oxidative metabolism Inherited as X linked recessive
Chronic Granulomatous Disease
51
30% of CGD is inherited in this pattern
Autosomal recessive
52
Chronic Granulomatous Disease involves a deficiency in the enzyme
NADPH oxidase
53
Deficiency in NADPH oxidase brings about defective
killing of catalase + organism
54
Chronic Granulomatous Disease Dx
- Nitrobluetetrazolium test
55
Chronic Granulomatous Disease Tx
Antibiotics | IFN Y
56
Causes by defective production of ROS in phagolysosome membrane following phagocytosis of microorganism
Chronic Granulomatous Disease
57
Directly kills engulfed microorganisms or enable the rise in pH needed to activate the phagosomal proteases that contribute to killing of microbes
Reactive Oxygen Species
58
Leukocytes of patients with CGD have
severely diminished hydrogen peroxide production
59
Catalase positive organisms:
Microorganisms that destroy their own hydrogen peroxide Staphylococcus aureus Burkholderia cepacia Aspergillus spp Chromobacterium violaceum
60
Impaired killing of intracellular organism by macrophages may lead to persistent cell mediated immune activation and granuloma formation
Chronic Granulomatous Disease
61
CGD Leads to collection of activated macrophages that wall of microbes forming aggregates called
Granuloma
62
CGD Dx
Assays of ROS production in neutrophil and monocyte: Dihydrorhodamine fluoresence assay DHR Nitroblue tetrazolium assay NBT Immunoblot for NADPH oxidase component
63
Management of Phagocytic Disorders
Prophylactic antibiotics | IFN Y for CGD
64
Tx of Chronic Granulomatous Disease mostly relies on preventing infection:
Trimethoprim Sulfamethoxazole
65
WOF for TMP SMZ rx
Steven Johnson Syndrome
66
Daily admin of this drug reduces the frequency of fungal complications
Itraconazole (azole derivatives)
67
Autosomal Recessive Increased susceptibility to infection owing to DEFECTIVE DEGRANULATION of neutrophils Defect in microtubule function preventing fusion of lysosome with phagosome
Chediak Higashi Syndrome
68
Mild bleeding Diathesis Albinism, partial oculocutaneous Progressive Peripheral Neuropathy Tendency to develop a life threatening lymphoma like syndrome
Chediak Higashi Syndrome
69
Silverish coloring of hair and skin Hypopigmentation Tx: prophylactic antibiotic
Chediak Higashi Syndrome
70
Catalase Positive Organisms
``` Staphylococci Candida E Coli Pseudomonas Aspergillus H pylori Nocardia Listeria Serratis B cepacia ```

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