Dr. Schurr -- Genetic Predisposition to Infections Flashcards Preview

Block G -- Infection > Dr. Schurr -- Genetic Predisposition to Infections > Flashcards

Flashcards in Dr. Schurr -- Genetic Predisposition to Infections Deck (23)
1

4 methods of inheritance of  primary immunodeficiencies

  • X-linked dominant
  • X-linked recessive
  • Autosomal dominant
  • Autosomal recessive

2

4 relatively common primary  immunodeficiencies starting from most common

  • Selective IgA immunodeficiency
  • Common variable immunodeficiency
  • Severe combined immunodeficiency
  • Chronic granulomatous disease

3

9 conditions that IgA deficiency is associated with

  • Chronic lung disease
  • Atopy
  • Rheumatoid arthritis
  • Lupus
  • Sjogren's
  • Diabetes
  • Pernicious anemia
  • Hemlytic anemia
  • Autoimmune hepatitis

4

When may complications arise in IgA deficiency?

  • Blood transfusion
  • IV Ig treatment

Due to natural absence of IgA antibodies

5

2 identified mutations responsible for IgA deficiency and what other condition are they involved in?

  • MSH5 (HLA region)
  • TNFRSF13B (chromosome 17)

Also involved in common variable immunodeficiency (CVID)

NOTE: Only explains a small proportion of sIAD

6

Define hypogammaglobulinemia

Marked reduction in serum IgG and IgA

IgM reduced in approximately 50% of patients

7

8 conditions associated with CVID

  • Recurrent sinopulmonary infections
  • Chronic enterovirus
  • Arthritis
  • Giardiasis
  • Increased autoimmune disease
  • Lympho-proliferative disease
  • Gastric cancers
  • lymphoma

8

Treatment for CVID

IVIG (but pay attention to sIAD)

9

6 examples of pathogens that often cause recurrent infections in those with chronic granulomatous disease

Catalase positive pathogens:

  • Staph aureus
  • Burkholderia cepacia
  • Serratia marcescens
  • Nocardia
  • Aspergillus
  • M. tuberculosis

10

Pathophysiology of chronic granulomatous disease

Non-functional NADPH oxidase, a key enzyme in immune defense against pathogens

11

Gene commonly involved in chronic granulomatous disease

Mutations in the X chromosome CYBB gene encoding gp91phox protein (70%)

12

Treatment for chronic granulomatous disease

Preventive antibiotic treatment

13

Cure for chronic granulomatous disease

Gene therapy

14

Mendelian Susceptibility to Mycobacterial Diseases (MSMD): IFNgammaR1/2 deficiency effects (4)

  • Severe outcome
  • Early onset BCG + EnvMyc
    • Mainly mycobacteria
  • Prognosis poor

15

MSMD: IL12B deficiency effects (4)

  • Less severe outcome
  • BCGosis (100% if exposed)
  • Salmonella common
  • Prognosis good

16

MSMD: IL12RB1 deficiency effects (6)

  • Highly variable penetrance
  • Mendelian TB
  • Salmonellosis common
  • Few relapses
  • Primary immunity to mycobacterium
  • Prognosis good

17

Treatment for IL12RB1 deficiency in MSMD

Antibiotics plus recombinant IFNgamma

18

Major gene that protects against P. falciparum and the disorder it causes

HbAS (sickle cell)

19

Major gene that protects against P. vivax and the disorder it causes

DARC (Duffy blood group)

20

Major gene that protects against Norovirus and the disorder it causes

FUT2 (no secretor mutation)

21

Major gene that protects against HIV and the disorder it causes

CCR5 (32 bp deletion)

22

Major gene that protects against Creutzfild-Jakob and the disorder it causes

PrP (codon 129 valine hz)

23

Major gene that protects against cerebral malaria and the disorder it causes

Band 3 (ovalocytosis)