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Survey of Human Genetic Disorders Second Half > Immunology > Flashcards

Immunology Flashcards

1
Q

Where are the B cells made?

A

Bone marrow

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2
Q

Where are the T cells made?

A

The thymus

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3
Q

What are the secondary or peripheral lymphoid organs?

A

Spleen
Lymph nodes
Organ-associated lymphoid tissue
-gut-associated lymphoid tissue (GALT), Peyer’s patches
mucosa-associated lymphoid tissue (MALT)

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4
Q

What is the Innate/Intrinsic Immune system?

A

Present from birth
Specificity is “pre-programmed”
Includes non-immunological cells (e.g. skin and cilia)

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5
Q

What is the adaptive immune system?

A

Develops during life with exposure to infection
Increases affinity with experience
Two compartments:
-Cellular- Mediated by cells (T cells)
-Humoral-Mediated by soluble factors (antibodies)

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6
Q

What makes up the most prevalent Inborn Error of Immunity subgroup (65%)?

A

Antibody deficiencies (65%)

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7
Q

What makes up the second most prevalent Inborn Error of Immunity subgroup (15%)?

A

Combined cellular and antibody deficiencies (15%)

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8
Q

What makes up the third most prevalent Inborn Error of Immunity subgroup (10%)?

A

Phagocytic deficiencies (10%)

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9
Q

What are the ten warning signs of immunodeficiency?

A
  1. Four or more ear infections within one year
  2. Two of more serious sinus infections within one year
  3. Two or more months on antibiotics with little effect
  4. Two or more pneumonias within one year
  5. Failure of an infant to gain weight or grow normally
  6. Recurrent, deep skin or organ abscesses
  7. Persistent thrush in mouth or fungal infection on skin
  8. Need for intravenous antibiotics to clear infections
  9. Two or more deep-seated infections including septicemia
  10. A family history of PI
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10
Q

How do you Assess Integrity of Adaptive Immune Function?

A
  1. CBC with leukocyte differential
  2. Total IgG, IgA, IgM, IgE
  3. Total T cells, B Cells, NK cells by flow cytometry
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11
Q

What Immune disorder is on the NBS?

A

Severe Combined Immunodeficiency (SCID)

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12
Q

What is one method of functionally assessing Immune function?

A

Vaccine titers to tetanus and pneumonia vaccine

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13
Q

What are the general principles of Treatment in Inborn Errors of Immunity?

A
  • Prophylactic antivirals, antibiotics, antifungals
  • Intravenous immunoglobulins
  • Immunomodulation
    -Glucocorticoids and biologics
  • Bone marrow transplantation if indicated
  • Screening for malignancy (especially lymphoma)
    -Skin cancers are also common in certain forms of SCID and CID
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14
Q

What is the phenotype of SCID?

A

Susceptibility to all infectious organism
FTT
Chronic diarrhea
Erythrodermia or other skin eruptions

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15
Q

What is the diagnostic criteria in SCID?

A

Lymphopenia in most
Diminished or absent T cells in most (maternal T cell engraftment may confuse the picture)
Poor/absent in vitro mitogen induced T cell proliferation in all

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16
Q

What are some types of SCID?

A

Adenosine deaminase deficiency
Common gamma chain deficiency (Xlinked SCID)
RAG1/RAG2 deficiency
IL7Ra deficiency
Reticular dysgenesis
Omenn

17
Q

What is a treatment for SCID?

A

Bone Marrow Transplant

18
Q

What are patients with Common Variable Immune Deficiency susceptible to?

A

Bacteria, common respiratory and enteroviruses (including vaccine strains), rotavirus, giardia,
cryptosporidium

19
Q

What are the clinical features of Common Variable Immune Deficiency?

A

Recurrent sinopulmonary infections
Bronchiectasis
Diarrhea
Arthritis
Giardiasis
Autoimmunity (20%)
Asthma (10%)
lymphoproliferative disease
gastric cancer and lymphoma

20
Q

How do you diagnose Common Variable Immune Deficiency?

A

Hypogammaglobulinemia (low IgG plus low IgA, or IgM), B cells present
Low class switched memory B cells
Impaired antibody response

Clinical Definition:
* IgG <2SD + low IgA and/or low IgM
* Inappropriate vaccine responses
* Rule out secondary causes

21
Q

What are the top non-infections comorbidities in CVID?

A

Chronic lung disease (functional/structural)
Bronchiectasis
Autoimmunity (ITP, AIHA)
Gastrointestinal disease (malabsorption, IBS)
Liver disease/hepatitis (Hep C, liver granuloma)

22
Q

What is a treatment in CVID?

A

IVIG

23
Q

What are some CVID disorders where B lymphocytes are absent

A

X-linked agammaglobulinemia:
BTK

AR:
IGHM, CD79A, CD79B, BLNK, IGLL1, NI, PIK3R1

AD:
TCF3

24
Q

What are the three most common genetic causes of CVID?

A

PIK3CD
LRBA
CTLA4

25
Q

What cancer is screened for in CVID?

A

non-Hodgkin’s lymphoma

26
Q

What is the treatment Abatacept used for?

A

CTLA-4 and LRBA haploinsufficiency

27
Q

What is the treatment Leniolisib used for?

A

PI3KCD

28
Q

What is the treatment Tocilizumab used for?

A

JAK inhibs for STAT3 GOF

29
Q

What is the phenotype of X-linked agammaglobulinemia (XLA)?

A

Immunodeficiency characterized by failure to produce mature B lymphocytes
Associated with a failure of Ig heavy chain rearrangement.

30
Q

What is the genetic cause of X-linked agammaglobulinemia (XLA)?

A

Mutations in the BTK gene

31
Q

What disorder is caused by biallelic mutations in MEFV?

A

Familial Mediterranean Fever

32
Q

What is the phenotype for Familial Mediterranean Fever?

A

Recurrent episodes of painful inflammation
Fever
Rash
Headache

Can lead to kidney damage

33
Q

What is the gene associated with SCID (Artemis type) and in what populations is there a founder mutation?

A

DCLRE1C

Navajo and Apache

Survey of Human Genetic Disorders Second Half (10 decks)

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