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Immunology (Mine) > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

What is the molecular defect in chronic granulomatous disease (CGD)?

A

Deficiency of NADPH oxidase (any one of 4 complement proteins)

Failure to generate superoxide and other O2 radicals

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2
Q

What are the symptoms of CGD?

A

Recurrent infections with catalase-positive bacteria and fungi

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3
Q

What is the molecular defect of Leukocyte adhesion deficiency (LAD)?

A

Absence of CD18- common beta chain of the leukocyte integrins

The 3 integrins that contain CD18: LFA-1, MAC-1 and gp 150/95

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4
Q

What are the symptoms of LAD?

A

Recurrent and chronic infections, failure to form pus, and delayed separation of umbilical cord stump

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5
Q

What is the defect in LAD-2?

A

L-selectin

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6
Q

What is the molecular defect of Chediak-Higashi syndrome?

A

Nonsense mutation in the lysosomal trafficking regulator, CHS1/LYST protein, leads to aberrant fusion of vesicles

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7
Q

What are the symptoms of Chediak-Higashi syndrome?

A

Recurrent infection with bacteria: chemotactic and degranulation defects; absent NK activity partial albinism

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8
Q

What is the molecular defect of Glucose-6-phosphate dehydrogenase (G6PD) deficiency?

A

Deficiency of essential enzyme in hexose monophosphate shunt

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9
Q

What are the symptoms of Glucose-6-phosphate dehydrogenase (G6PD) deficiency?

A

Same as CGD, with associated anemia

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10
Q

What is the molecular defect of Myeloperoxidase deficiency?

A

Defect in MPO affects the ability to convert hydrogen peroxide to hypochlorite

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11
Q

What are the symptoms of MPO?

A

Mild or none

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12
Q

what is the molecular defect of hyperimmunoglobulin E syndrome (formerly Job syndrome)?

A

Defects in JAK/STAT signaling pathway leading to impaired Th17 function: decreased IFN-gamma production

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13
Q

What are the symptoms of hyperimmunoglobulin E syndrome (formerly Job syndrome)?

A

Characteristic facies, severe, recurrent sinusopulmonary infections, pathologic bone fractures, retention of primary teeth, increased IgE, eczematous rash

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14
Q

What is the molecular defect of Bruton (X-linked) agammaglobulinemia?

A

Deficiency of the Bruton tyrosine kinase (btk) which promotes pre-B cell expansion; faulty B-cell development

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15
Q

What are the signs and symptoms of Bruton (X-linked) agammaglobulinemia?

A

Increased susceptibility to encapsulated bacteria and bloodborne viruses, low immunoglobulin of all isotypes, absent or low levels of circulating B-cells. B-cell maturation does not progress past the pre-B cell stage while maintaining cell-mediated immunity

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16
Q

What is the molecular defect of X-linked hyper-IgM syndrome?

A

Deficiency of CD40L on activated T cells

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17
Q

What are the signs and symptoms of X-linked hyper-IgM syndrome?

A

High serum titers of IgM without other isotypes, normal B and T-cell numbers, susceptibility to encapsulated bacteria and opportunistic pathogens

18
Q

What is the molecular defect of selective IgA deficiency?

A

Multiple genetic causes

19
Q

What are the signs and symptoms of selective IgA deficiency?

A

Decreased levels of IgA level and normal IgM and IgG with elevation of IgE. Repeated sinopulmonary and gastrointestinal infections, increased atopy

20
Q

What is the molecular defect of common variable immunodeficiency?

A

Collection of syndromes; several associated genetic defects

21
Q

What are the signs and symptoms of common variable immunodeficiency?

A

Onsets in late teens, early twenties

B-cells present in peripheral blood, immunoglobulin levels decrease with time; increase autoimmunity

22
Q

What is the molecular defect in transient hypogammaglobulinemia of infancy?

A

Delayed onset of normal IgG synthesis

23
Q

What are the signs and symptoms of transient hypogammaglobulinemia of infancy

A

Detected in 5th to 6th month of life, resolves by 16-30 months; susceptibility to pyogenic bacteria

24
Q

What is the deficiency in hereditary angioedema?

A

Deficient in C1-INH

C1 inhibitor that turns off complement

25
Q

What are the signs of hereditary angioedema?

A

Overuse of C1, C4 or C2, edema at mucosal surfaces

26
Q

What is the defect in DiGeorge syndrome?

A

Heterozygous deletion of chromosome 22q11. Failure of formation of 3rd and 4th pharyngeal pouches, thymis aplasia.

27
Q

What are the clinical manifestations of DiGeorge syndrome?

A

Characteristic facies and a clinical triad of cardiac malformations, hypocalcemia and hypoplastic thymus

28
Q

What is the defect in MHC class I deficiency?

A

Failure of TAP 1 molecules to transport peptides to endoplasmic reticulum

29
Q

What are the clinical manifestations of MHC class 1 deficiency?

A

CD8+ T cells deficient, CD4+ T cells normal, recurring viral infections, normal DTH, normal Ab production

30
Q

What is the defect in Wiskott-Aldrich syndrome?

A

Defect in WAS protein which plays a critical role in actin cytoskeleton rearrangement

31
Q

What are the clinical manifestations of Wiskott-Aldrich syndrome?

A

Defective responses to bacterial polysaccharides and depressed IgM, gradual loss of humoral and cellular responses, thrombocytopenia, and eczema

IgA and IgE may be elevated

32
Q

What is the defect in Ataxia telangiectasia?

A

Defect in ATM kinase involved in the detection of DNA damage and progression through the cell cycle

Ds DNA defect

33
Q

What are the clinical manifestations of Ataxia telangiectasia?

A

Ataxia (gait abnormalities), telangiectasia (capillary distortions in the eye), deficiency of IgA and IgE production

34
Q

What is the defect in bare lymphocyte syndrome/MHC class II deficiency?

A

Failure of MHC class II expression, defects in transcription factors

35
Q

What are the clinical manifestations of bare lymphocyte syndrome/MHC class II deficiency?

A

T cells present and responsive to nonspecific mitogens, no GVHD, deficient in CD4+ T cells, hypogammaglobulinemia. Clinically observed as a severe combined immunodeficiency

36
Q

What is the defect in severe combined immunodeficiency (SCID)?

A

Defects in common gamma chain of IL-2 receptor (present in receptors for IL-4, -7, -9, -15)

X-linked Male>female

37
Q

What are the clinical manifestations of SCID?

A

Chronic diarrhea; skin, mouth, and throat lesions; opportunistic (fungal) infections; low levels of circulating lymphocytes; cells unresponsive to mitogens

38
Q

What is the defect of ADA?

A

Adenosine deaminase deficiency

39
Q

What are the clincal manifestations of ADA?

A

Clinical overlap with X-linked SCID plus neurologic deficiency

40
Q

What is the defect in Rag SCID?

A

rag1 or rag2 gene nonsense mutations

41
Q

What are the clinical correlates of Rag SCID

A

Total absence of B+ T cells

Immunology (Mine) (7 decks)

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