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SFM Immunology > Primary Immunodeficiencies > Flashcards

Primary Immunodeficiencies Flashcards

1
Q

Sinopulmonary

A

Humoral

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2
Q

Viral, fungal

A

Cellular

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3
Q

Skin abscesses, fungal

A

Phagocytes

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4
Q

Encapsulated (bacteremia, meningitis; Nisseria)

A

Complement

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5
Q

Accumulation of lymphocyte toxin deoxyadenosine, unable to convert to deoxyinosine

Avoid all live viral vaccines

A

SCID: Adenosine-Deaminase (ADA) Deficiency

T-, B-, NK-
Low IgG, IgA, IgM
Autosomal recessive

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6
Q

Presentation with diarrhea, candidiasis, Pneumocystis jiroveci pneumonia

Avoid all live viral vaccines

A

SCID: Artemis Deficiency

T-, B-, NK+
Low IgG, IgA, IgM
Autosomal Recessive Radiosensitive

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7
Q

SCIDs are characterized by what three things?

A

severe opportunistic infections, chronic diarrhea, failure to thrive; oral thrush

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8
Q

Accumulation of intracellular deoxyguanosine triphosphate (dGTP); toxic to lymphocytes = decrease in peripheral T cells

Autoimmune disorders: hemolytic anemia, thyroid disease, arthritis, lupus

HSCT definitive treatment

Avoid all live viral vaccines

A

SCID: Purine Nucleoside Phosphorylase (PNP) Deficiency

T-, B+, NK+/-
Normal IgG, IgA, IgM
Autosomal Recessive

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9
Q

Impaired V(D)J Recombination leading to defective expression of pre-TCR and pre-BCR

Presentation with diarrhea, candidiasis, Pneumocystis jiroveci pneumonia

Avoid all live viral vaccines

A

SCID: RAG1/RAG2 Deficiency

T-, B-, NK+
Low IgG, IgA, IgM
Autosomal Recessive

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10
Q

Leaky RAG1/RAG2 defects allow partial function, give rise to which atypical form of SCID?

Characterized by severe erthyroderma, splenomegaly, eosinophilia, high IgE

A

Omenn Syndrome

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11
Q

This SCID causes a defect in IL-2 receptor signaling

A

SCID: Deficiency of Jak3

T-, B+, NK+
Autosomal recessive

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12
Q

Early B-cell development is arrested at pre-B-cell stage, circulating B cells are absent or present in low concentrations

A

Agammaglobulinemia

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13
Q

This agammaglobulinemia disease is caused by a defect in rearrangement of the Ig heavy chain genes

A

X-linked BTK Kinase Deficiency

B-, T+, NK+
No IgG, IgM, IgA
X-linked

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14
Q

This agammaglobulinemia disease is typically asymptomatic, may be associated with recurrent viral/bacterial infections involving the respiratory tract

A

Isolated IgG Subclass Deficiencies

B-, T+, NK+
Some IgG subclasses low; normal IgM, IgA, IgE

IgG2 – poor response to polysaccharide Ags

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15
Q

B cells may have disorders of maturation or terminal differentiation

serum anti-IgA IgG, risk to develop non-IgE mediated anaphylaxis

A

IgA Deficiency

B+, T+, NK+
No IgA; normal IgG, IgM
higher in males

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16
Q

Classic triad: cardiac anomalies, hypocalcemia, hypoplastic thymus (leading to T-cell immune dysfunction)

A

DiGeorge Syndrome (DGS)

T-, B+, NK+
Normal IgG, IgA, IgM

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17
Q

normal numbers peripheral B cells, low numbers CD27+ memory B cells

A

Hyper IgM Syndromes (HIGM)

B+, T+, NK+
High IgM; low IgG, IgA

characterized by: impaired Ig class switching and somatic hypermutation

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18
Q

What is the cause of X-Linked HIGM?

A

Mutations in CD40L gene

X-linked CD40L Deficiency is only seen in males! (2/3)
Autosomal CD40 seen in male and female (1/3)

explains characterization of impaired Ig class switching and somatic hypermutation in HIGM

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19
Q

Increased susceptibility to sinopulmonary infections

A

Transient Hypogammaglobulinemia of Infancy

B+, T+, NK+
Low IgG/IgA; normal-low IgM

majority of pts normalize between 2 and 4 yrs

20
Q

Characterized by a defect in Ab production associated w/ hypogammaglobulinemia

Diagnosed based on a history of recurrent pyogenic sinopulmonary infections

B cells fail to differentiate into plasma cells

A

Common Variable Immune Deficiency (CVID)

B-/+, T+, NK+
autosomal disorder
number of circulating B cells reduced or normal

pts increased risk of infections, autoimmune, malignancies

21
Q

Common y Chain Deficiency (yc or IL-2Ry)

pts present w/ failure to thrive, severe thrush, opportunistic infections, chronic diarrhea

A

most common form of SCID
X-linked recessive
T-, B+, NK-
v. low IgG, IgA, IgM

gene encodes gamma-chain shared by T-cell growth factor receptor (IL-2Ry) and other growth factor receptors

IL-4, IL-7, IL-9, IL-15, IL-21 share receptor

no functional B cells b/c T cells unable to help

avoid all live viral vaccines

22
Q

d/t loss of IL playing key role in early T cell development

pt presents w/ candidiasis, chronic diarrhea, pneumocystis jiroveci pneumonia, viral infections

A

IL-7R alpha chain deficiency

T-, B+, NK+
v. low IgG, IgA, IgM
autosomal recessive

23
Q

Bare Lymphocyte Syndrome T2 (BLS II): No MHC II on APC causing a deficiency in CD4+ T cells, genes encoding MHC II are intact on chromosome 6. Where is the mutation?

A

Mutations are in genes which encode for transcription factors that normally regulate the expression of the MHC II genes

CD4 T-, CD8 T+, B+, NK-
Autosomal Recessive
HLA II-negative SCID

variable hypogammaglobulinemia
recurrent respiratory, GI, urinary tract infections

24
Q

mutation in TAP 1

what cells are deficient and cause recurrent viral infections?

A

MHC I Deficiency

deficient: CD8+

25
Q

CD3 Complex Deficiencies

A

T-, B+, NK+
Low IgG, IgA, IgM
Autosomal recessive SCID

deficiencies of CD3 subunits; HSCT indicated,

present w/ failure to thrive, opportunistic infections, chronic diarrhea; lymphopenia and decreased T cell numbers

26
Q

mutations in IL-12 or IL-12R result in what?

A

primary immunodeficiency

IL-12 is essential for differentiation of naive T cells –> Th1; pts do not produce IFN-y

also have defects in formation of Th17 resulting in recurrent fungal infections

27
Q

unusual susceptibility to chronic mucocutaneous candidiasis; candidia has PRR

mutations in genes encoding for IL-17, IL-17R or TF STAT1, STAT3, AIRE

A

TH17 Deficiency

28
Q

self-reactive T effector cells are not inhibited d/t mutation in FOXP3 –> loss of inhibition by CD4+CD25+ Treg

A

IPEX

Immunodysregulation, polyendocrinopathy and enteropathy, X-linked syndrome

29
Q

defects in Fas, FasL, caspase-8, caspase-10 genes –> formation of DISC and resistance of effector T cells to apoptosis

A

ALPS

autoimmune lymphoproliferative syndrome

30
Q

Wiskott-Aldrich Syndrome (WAS)

A

T-, B+, NK-
Low IgM; normal IgG; elevated IgA, IgE

mutations in WASP; pts have recurrent infections from encapsulated bacteria; T cell lymphopneia, decreased NK cytotoxicity

X-linked disorder characterized by thrombocytopenia, eczema, cellular and humoral immunodeficiency, autoimmune disease, malignancy

31
Q

classical vs functional NKD

A

classical: GATA2 deficiency (absence of NK)
functional: perforin deficiency

32
Q

defective NADPH oxidase, phagocytes cannot produce O2- = impaired killing of phagocytosed bacteria

granulomas; fungal infections

A

chronic granulomatous disease (CGD)

susceptible to catalase-positive (staph)

33
Q

defective respiratory burst = impaired killing of phagocytosed bacteria

tendency to form granulomas

anemia; fungal, bacterial

A

G6PD deficiency

34
Q

deficiency of myeloperoxidase in neutrophil granules and macrophage lysosomes & impaired production of toxic oxygen species = impaired killing of phagocytosed bacteria

bacterial, fungal

A

myeloperoxidase deficiency

35
Q

LAD – mutations in B2 integrins (CD11/CD18)

A

LAD I

36
Q

LAD – impaired adhesive functions of PSGL-1 caused by mutations in glucose transporter

A

LAD II

37
Q

LAD – defective activation dependent signaling of B2 integrins

A

LAD III

38
Q

clinical manifestations:

delayed attachment of umbilical cord, slow wound healing, severe bacterial infections, failure to form pus

A

leukocyte adhesion deficiencies

defective CD18 = defective migration of phagocytes

neut x2; unable to aggregate, do not bind IC adhesion molecules on endothelial cells

capsulated bacteria

39
Q

abnormal giant cells, granules do not contain cathepsin G and elastase

defect in vesicle fusion

albinism, no NK activity

A

Chediak-Higashi Syndrome

granulomas, effects on many organs; bacterial

biphasic: susceptible, accertate lymphoproliferative sindrome w/ hepatosplenomegaly and lymphadenopathy

40
Q

C1 and C4 deficiency

A

SLE, RA

CP

41
Q

C1-INH deficiency

A 
Hereditary Angioedema (HAE)
note--there are three types

swelling of extremities, face, lips, larynx, GI; d/t prod bradykinin

CP

42
Q

C8 deficiency

A

invasive Neisserial infections

pts w/ late complement pros increased susceptibility (C5-C9)

43
Q

Paroxysmal Nocturnal Hemoglobinuria (PNH)

A

somatic mutation causing deficiency of glycosylphosphatidylinositol (GPI)

failure to regulate formation of MAC

GPI anchor pros: DAF (CD55), CD59
protect RBC from complement

44
Q

MyD88 deficiency has impaired signaling in all but which TLR?

A

TLR3

45
Q

MyD88 deficiency leads to severe infections caused by:

A

pyogenic bacteria

pts characteristically afebrile, elevated ESR/CRP

46
Q

MyD88 deficient patients will have normal resistance to:

A

common bacteria, viruses, fungi, parasites

47
Q

autosomal dominant disorder resulting in increased susceptibility to HSV encephalitis

A

TLR3 deficiency

SFM Immunology (3 decks)

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