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SFM- Final Exam > Congenital Immunodeficiency > Flashcards

Congenital Immunodeficiency Flashcards

1
Q

SCID

A
  • 4 to 6 months of age with severe persistent infections, oral thrush, chronic diarrhea, and failure to thrive
  • profound T-cell lymphopenia
  • should be placed in protective isolation and offered hematopoietic stem cell transplantation
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2
Q

Adenosine Deaminase (ADA) Deficiency

A
  • T-,B-, NK-
  • IgG-, IgA-, and IgM-
  • Autosomal recessive
  • second most common cause of SCID
  • accumulation of toxic products
  • Avoid all live viral vaccines
  • HSCT
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3
Q

Purine Nucleoside Phosphorylase (PNP) Deficiency

A
  • Autosomal recessive form of SCID (rare)
  • T- B- NK-/+
  • normal IgM, IgG, and IgA
  • early onset of neurological abnormalities
  • autoimmune disorders are also common
  • HSCT is definitive treatment
  • avoid all live vaccines
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4
Q

Artemis Deficiency

A
  • IgG-, IgA-, and IgM-
  • T- B- NK+
  • autosomal recessive radiosensitive SCID
  • diarrhea, candidiasis, and Pneumocystis jiroveci pneumonia
    numbers are normal
  • avoid all live viral vaccines
  • HSCT treatment
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5
Q

RAG1/RAG2 Deficiency

A
  • IgG-, IgA-, and IgM-
  • T-B-NK+
  • autosomal recessive
  • Impaired VDJ recombination
  • defective expression of the pre-TCR and pre-BCR
  • diarrhea, candidiasis, Pneumocystis jiroveci pneumonia
  • also known as Omenn Syndrome (partial functioning RAG), symptoms are severe erythroderma, splenomegaly, esinophilia, and high IgE
  • avoid all live viral vaccines
  • HSCT treatment
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6
Q

Jak3 deficiency

A
  • IgG-, IgA-, and IgM+
  • T- B+ NK-
  • mutation in gene that encodes a lymphocyte Janus kinase 3
  • autosomal recessive trait
  • defect in IL-2 signaling
  • no live vaccines
  • HSCT treatment
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7
Q

Agammaglobulinemia BTK

A
  • X-linked
  • T+ B- NK+
  • B-cell development is arrested at the pre-B cell stage
  • recurrent bacterial infections
  • no IgG, IgM, IgA
  • defect rearrangment of the Ig heavy chain
  • no live vaccines
  • HSCT treatment
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8
Q

Isolated IgG Subclass Deficiences

A
  • T+ B+ NK+
  • decreased concentrations of one or more igG subclass
  • usually asymptomatic but may be associated with recurrent viral/bacterial infections
  • Autosomal
  • Asymptomatic
  • can get vaccinated
  • no cure
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9
Q

IgA deficiency

A
  • T+, B+, NK+
  • incidence is high
  • No IgA, normal IgG and IgM
  • prevalence may be higher in male patients
  • often develop autoimmune diseases and allergy
  • may have serum anti-IgA IgG which has been linked to the development of non-IgE mediated Anaphylaxis in response to transfusion
  • can be vaccinated
  • no cure
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10
Q

DiGeorge Syndrome

A
  • normal IgG, IgA, and IgM
  • T cell deficiency
  • T- B+ NK+
  • result from microdeletion of 22q11.2 region containing more than 35 genes
  • classic triad includes cardiac anomalies, hypocalcemia, and hypoplastic thymus leading to T-cell dysfunction
  • humoral immunity is intact
  • frequent upper respiratory infections (viruses)
  • can be vaccinated
  • autosomal dominant
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11
Q

Hyper IgM syndrome

A
  • High IgM, low IgG and IgA
  • T+ B+ NK+
  • encapsulated opportunistic infections
  • low numbers of CD27-positive memory B cells
  • increased susceptibility to bacterial infection
  • X-linked mutation in CD40L (male only)
  • Autosomal mutation in CD40 (both sexes)
  • polio vaccine not recommended
  • no cure
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12
Q

Transient Hypogammaglobulinemia of Infancy

A
    • T+ B-/+ NK+
  • low IgG/IgA
  • intrinsic Ig production delayed up to 36 months
  • increased susceptibility to sinopulmonary infections (encapsulated)
  • normalize between 2 and 4 years of age
  • polio vaccine not recommend
  • no cure
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13
Q

Common Variable Immune Deficiency (CVID)

A
  • defect in Ab production
  • recurrent pyogenic sinopulmonary infections
  • circulating B cells is reduced
  • fail to differentiate into plasma cells
  • increased risk for infection, autoimmune diseases
  • low IgG and IgA
  • autosomal disorder
  • onset at 4-5 but usually not diagnosed until later
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14
Q

Common gamma Chain Deficiency

A
  • T-B+ NK-
  • IgM+, IgG-, IgA-
  • most common form of SCID
  • inherited as X-linked recessive trait
  • no functional B-cells
  • failure to thrive, severe thrush, opportunistic infections, chronic diarrhea
  • avoid all live vaccines
  • HSCT treatment
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15
Q

IL-7R Alpha chain Deficiency

A
  • Very low IgG, IgA, and IgM
  • T- B+ NK+
  • autosomal recessive
  • candidiasis, chronic diarrhea, severe viral infections
  • avoid all live viral vaccines
  • HSCT treatment
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16
Q

Bare Lymphocyte Syndrome II

A
  • rare autosomal recessive genetic disorder
  • CD4 lymphopenia
  • no MHC class II expression on professional APCs, Deficiency in CD4+ cells
  • recurrent respiratory, gastrointestinal, and urinary tracts infections and frequently death
  • no live vaccine
  • HSCT treatment
17
Q

MCH Class I deficiency

A
  • IgM+ IgG+ IgA+
  • autosomal recessive
  • caused by mutation in TAP1 molecules to transfer peptides to ER
  • CD8+ cells are deficient which causes recurring viral infections
  • can be vaccinated
  • no cure
18
Q

CD3 Complex Deficiences

A
  • low IgG, IgA, IgM
  • T- B+ NK+
  • autosomal recessive
  • lymphopenia, decreased T cell numbers
  • present in infancy, failure to thrive, opportunistic infections, and chronic diarrhea
  • vaccination not recommended
  • HSCT treatment
19
Q

Defects in IL-12/IFN-gamma Pathway

A
  • do not produce Th1 cytokine IFN-gamma
  • susceptibility to intracellular pathogens, atypical mycobacteria
  • also have defects in formation of IL-17 producing Th17 cell
20
Q

Th17 Deficiency

A
  • chronic mucocutaneous candidiasis
  • Severe atopic disease
  • recurrent Staph aureus skinn abscesses
21
Q

Wiskott-Aldrich Syndrome

A
  • low IgM, normal Ig, elevated IgA and IgE
  • X-linked disorder characterized by thrombocytopenia, eczema, cellular and humoral immunodeficiency, autoimmune disease, and malignancy
  • recurrent bacterial infections with encapsulated bacteria
22
Q

NK cell Deficiency

A
  • mutations in multiple genes

- multiple viral infections

23
Q

Chronic Granulomatous Disease

A
  • tendency to form granulomas
  • most frequent phagocytic primary immunodeficiency
  • more common in males
  • CGD fail to generate superoxide and other O2 radicals
  • recurrent infection with catalase-positive organisms
24
Q

Leukocyte Adhesion Deficiency

A
  • even without the ongoing infection, Neutrophil count in the blood is twice the normal level
  • recurrent infections of oral, genital mucosa, skin, and intestinal, and respiratory tracts
  • neutrophils are unable to aggregate
25
Q

Chediak-Higashi Syndrome

A
  • autosomal recessive disorder
  • become wheelchair-bound and usually die of infection in their early 30s
  • abnormal giant granules
  • granules do not contain cathepsin G and elastase
  • abnormalities in chemotaxis and degranulation
  • No NK activity
  • Partial albinism
26
Q

C1 and C4 deficiency

A
  • systemic lupus erythematosus and rheumatoid arthritis

- without complement, the complexes can grow too large to be easily cleared

27
Q

C8 deficiency

A
  • autosomal recessive

- increased susceptibility to Neisserial infections

28
Q

TLRs deficiency

A
  • MyD88 deficiency leads to severe infections caused by pyogenic bacteria
  • lack fevers and elevated ESR/CRP despite active infection
  • levels of pro-inflammatory TNF-alpha, IL-1,6

SFM- Final Exam (3 decks)

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