Primary Immunodeficiency Flashcards

1
Q

Neutrophil disorder

A

Chronic granulomatomous disease
Chediak-higashi syndrome
Leukocyte adhesion deficiency

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2
Q

B-cell disorders

A

IgAdeficiency
Bruton’s congential agammaglobinemia
Common variable immunodeficiency

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3
Q

T cell disorders

A

DiGeorge

  • microdeletion
  • increased risk or viral and fungal infections
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4
Q

Combined B and T cell disorders

A
Severe combined immunodeficiency 
Ataxic telangectasia (autosomal recessive, 10% risk of malignancy, lymphoma or leukaemia and non-lymphoid tumours, recurrent chest infections)
Wisconsin-Aldrich (X linked recessive) WASP gene mutation, recurrent bacterial infections, eczema and thrombocytopenia with low IgG
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5
Q

Chronic granulomatous disease

A

Neutrophil disorder
Lack of NADPH oxidase reduces ability of phagocytes to produce ROS
Recurrent pneumonia’s and abscesses particularly due to catalase positive bacteria (eg staph aureus) and fungi
- negative nitroblue-tetrazolium test
- abnormal dihyrorhidamine flow cytometry test

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6
Q

Chediak- Higashi syndrome

A

Neutrophil disorder
Microtubule polymerisation defect -> reduction in phagocytosis

‘Partial albinism’ and peripheral neuropathy
Recurrent bacterial infections

Giant granules in neutrophils and platelets

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7
Q

Leukocyte adhesion deficiency

A

Neutrophil disorder
Defect of LFA-1 (CD18) integrin on neutrophils

Recurrent bacterial infections
Delay in umbilical cord sloughing
Absence of neutrophils/pus at sites of infection

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8
Q

Common variable immunodeficiency

A

B cell disorders

Varying causes

Hypogammaglobulinemia is seen
May predispose to autoimmune disorders and lymphoma

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9
Q

Bruton’s (x-linked) congential deficiency

A

Defect in Bruton’s tyrosine kinase (btk) gene that leads to a severe block in B cell development

X linked recessive
Recurrent bacterial infections
Absence of B cells with reduced immunoglobulins of all classes

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10
Q

Selective immunoglobulin A deficiency

A

Maturation defect in B cells
Most common primary antibody deficiency
Recurrent sinus and resp infections
Associated: coeliac disease and may cause false negative coeliac Ab screen

Severe reactions to blood transfusions may occur- anti IgA abs-> anaphylaxis

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11
Q

DiGeorge syndrome

A

T cell disorder
22q11.2 deletion

Failure to develop 3rd and 4th pharyngeal pouches

Commonly: CHD, learning difficulties, hypocalcemia, recurrent viral/fungal infections, cleft palate

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12
Q

Severe combined immunodeficiency

A

Many causes
Commonly X linked due to defect in common gamma chain, a protein used in receptor for IL-2 and other interleukins.
Recurrent infections

Reduced T cell receptor excision circles
Stem cell transplant may be useful

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13
Q

Ataxic telangectasia

A

Combined B and T cell disorder
Defect in DNA repair enzymes

Autosomal recessive

Features: cerebellar ataxia, telangectasia, recurrent chest infections, 10% risk of malignancy (lymphoma, leukaemia)

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14
Q

Wiskott-Aldrich syndrome

A

Combined B and T disorder

Defect in WASP gene

X liked recessive

Recurrent bacterial infections, eczema, thrombocytopenia.
Low IgM levels

Increased risk AI and malignancy

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