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BLIB > DS Immunodeficiencies > Flashcards

DS Immunodeficiencies Flashcards

1
Q
  • One of the MC; Caucasians
  • Recurrent sinopulmonary infxn
  • Autoimmune, GI, endocrine disorders
  • Can progress to CVID
A

Selective IgA deficiency

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2
Q
  • Male kids
  • no/small amounts of B cells and no/little serum Ig
  • nodes small, tonsils absent
  • expressed around 6m after maternal IgG exhausted
  • recurrent bac infxn (esp encapsulated)
  • B-, T+
A

XLA

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3
Q
  • X-linked
  • genetic defect in CD40L on helper T cells
  • recurrent bacterial infxn (OM, pneumonia, septicemia)
  • some may have opportunistic viral or fungal infxn d/t CD40L defect
  • B+, T+
A 
Hyper IgM syndrome 1 (CD40L def)
no CD40L > no allowing for class switching and can also have defect in cell immunity (opportunistic infxn d/t macrophages and DCs being affected)
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4
Q
  • AR
  • lymphoid hyperplasia common
  • defect in activation-induced cytidine deaminase gene in B cells
  • recurrent bac infxn (OM, pneumonia, septicemia)
  • B+, T+
A

Hyper IgM syndrome 2 (AID deficiency)

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5
Q
  • onset in 2,3 decade
  • heterogenous group of disorders (recurrent OM or sinopulmonary infxn, persistent diarrhea)
  • slow decline in Ig > usually low IgG, IgA
  • may have hx of poor response to vaccines
  • increased incidence of autoimmune disease, leukemia, lymphoma
  • B+, T+
A

CVID/adult onset agammaglobulinemia

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6
Q
  • congenital defect in organs deriving from 3rd and 4th pharyngeal pouches
  • T cell deficiency varies depending on how much thymus is present > can get increased infxn
  • NK+, B+, T-, no class switching in most severe cases
  • often triad of hypocalcemia, diminished T function, congenital heart disease
A

DiGeorge (congenital thymic aplasia)

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7
Q
  • complete syndrome w/ triad of eczema, recurrent pyogenic infxn, thrombocytopenia (often unusually small)
  • classic triad of bleeding, eczema, recurrent infxn
  • XL, often diagnosed soon after birth
  • B+, T-, low IgM, High IgA, IgE
A

Wiskott-Aldrich syndrome

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8
Q
  • recurrent infxn early in life, FTT, chronic diarrhea
  • Therapy usually stem cell transplant
  • usually fatal w/i first 2y unless immune system rescued with bone marrow transplant
A

SCID

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9
Q
  • X-Linked gene encoding common gamma chain for various cytokine receptors (IL-2, 4, 7, 9, 15, 21)
  • B+, T-, NK-, no class switching
A

XL SCID

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10
Q

Enzymes involved in purine metabolism and deficiency leads to toxic buildup of dATP and dGTP, esp in proliferating lymphocytes

A

adenosine deaminase deficiency (ADA) and purine nucleoside phosphorylase deficiency (PNP) in SCID

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11
Q

ADA deficiency is B, T, NK

A

all negative

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12
Q

PNP deficiency is B, T, NK

A

B+, low T and NK

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13
Q

enzymes responsible for somatic recombination events during B and T cell development
-B-, T-, NK+

A

RAG1/2 deficiency in SCID

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14
Q
  • opportunistic infxn with severe consequences > abscess formation (skin and other organs), HSM, LAD, chronic draining lymph nodes, and chronic infected ulcerations and granuloma formation
  • avg onset is 2yo
  • MC form is XL
A

CGD

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15
Q

-recurrent attacks of edema of SC and submucosal tissues with typical attacks lasting 1-3 days w/o serious effect (if edema in URT > asphyxiation, if in GI > abd pain, cramps, severe vomiting)

A

Hereditary angioedema

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16
Q

complement component deficiencies

A
  • serious infxn and high incidence of autoimmune disease (esp SLE-like and GN with C1, 2, 4)
  • recurrent bac infxn d/t def opsonization and complement-assisted antibody production (C3)
  • MAC (C5-9) > Neisseria
  • meningitis pt should be evaluated for complement def
17
Q
  • absolute neutrophil count below 1500/microliter
  • several genetic defects of varying severity of AD, AR, or XL inheritance
  • oropharyngeal problems, OM, resp infxn, cellulitis and skin infxn
  • tx with G-CSF (filgrastim)
A

severe congenital neutropenia

18
Q

complications of G-CSF tx

A

Malignancy and osteopenia

19
Q

HAE deficiency

A

-deficiency in complement control protein (C1 inhibitor - serine protease inhibitor) > regulates complement activation and production of inflammatory kinins > excess bradykinin production

20
Q

CGD defect

A

-defect in NADPH oxidase enzymes in phagocytic cells > diminished resp burst > defect in intracell killing of microbes

21
Q

Infxn in SCID

A

Candida, pneumocystitis jirovecii, rotavirus and other bac infxn in GI tract, fatal infxn from live organism vaccines

22
Q

Wiskott-Aldrich defect

A

WASP defect > signaling and actin cytoskeletal function

23
Q

DiGeorge

A 
CATCH-22
Cardiac defects
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypocalcemia
22q11 deletion

BLIB (1 decks)

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