Immunodeficiecy

Question 1

What are the infections that are associated with Agammaglobinemia

Answer 1

• Pyogenic bacterial infection
  (Otitis - sinusitis - pneumonia)
• Enterovirus due to IgA lack
  (Meningoencephalitis)

Question 2

When do infections start to occur in Agammaglobinemia?

Answer 2

After 4-6 months after decrease in maternal IgG

Question 3

What is the genetic mutations in Agammaglobinemia?

Answer 3

1- X-linked (Btk gene)

2- Autosomal recessive (mu-chain)

Question 4

Findings in Agammaglobinemia?

Answer 4

• abnormal Ab response to RBC Ag and routine vaccine
• Flow cytometery: <2% of CD19
• Bone marrow: normal Pre B-cells.

Question 5

What is the clinical presentation of Agammaglobinemia?

Answer 5

• Small tonsils

- no palpable lymph nodes

Question 6

What is the commonest type of primary immunodeficiency?

Answer 6

Selective IgA deficiency

Question 7

Clinical presentation of IgA deficiency:

Answer 7

• Normal
• Recurrent UTI
• GI symptoms (by giardia)
• Autoimmune disease
• Allergies

Question 8

Levels of IgA, IgG in selective IgA deficiency

Answer 8

IgA: <7mg\dl
IgG: normal levels

Question 9

What IGs are lost in the hypogammaglobinemia:

Answer 9

IgG (found to have accelerated decrease after 4-6months)

Question 10

What are the findings of flow cytometery in hypogammaglobinemia

Answer 10

Normal circulating B-cell levels

Question 11

What is the prognosis of hypogammaglobinemia:

Answer 11

Good prognosis

IgG concentration normalize by age 2-3years

Question 12

Differentiate between t-cell and b-cell defect

Answer 12

T-cell: appear earlier with broad spectrum and is associated with graft-vs-host disease. “The graft will fight the human”

Question 13

Pathogens involved in T-cell mediated defect include:

Answer 13

• bacteria (Mycobacterium)
• viruses (CMV, EBV, Varicella, Enterovirus)
• Fungi (Candida, PCP)
• parasite

Question 14

Treatment of SCID:

Answer 14

Stem cell transplant + enzyme replacement

Question 15

What is the commonest etiology of SCID

Answer 15

X-linked gamma chain deficiency

IL-2Ry

Question 16

Diagnosis of SCID requires:

Answer 16

• Lymphopenia
• <20% CD3+
• IgG<150 “not required”

Question 17

Omenn syndrome commonest genetic mutation is:

Answer 17

Rag1 - Rag2 “autosomal recessive”

Question 18

What are the clinical mainfestations of omenn syndrome

Answer 18

• Erythroderma
• lymphadenopathy
• Hepatosplenomegaly
• failure to thrive “diarrhea”
• fever

Question 19

What are the characteristics of wiskott-aldrich syndrome?

Answer 19

1- Eczema
2- thrombocytopenia “small”
3- recurrrent infections

Question 20

What is the infections that in wiskott aldrich syndrome increase the probability of wiskott aldrich

Answer 20

Pneumocystic jeroveci + Herpes infection

Question 21

Name the infections that are more likely to happen in neutropenias:

Answer 21

.

Question 22

What is the feature seen in chediac higashi syndrome microscopy?

Answer 22

.

Question 23

What is the clinical mainfestations of chediak higashi?

Answer 23

.

Question 24

What are the warnings signs in primary immunodeficiency

Answer 24

1- Family Hx of 1ary immunodeficency
2- 8 or more ear infections 
3- 2 or more (pneumonia, serious sinus infection, months of ab, deep seated infections) 
4- failure to thrive
5- recurrent abscess 
6- need of IV ab tp clear infections

Question 25

Lymphopenia levels that raise warning of immunodeficiency in infant and older children

Answer 25

Infants: <3000
Adult: <1500

Question 26

What are the B-cel defects screening tests?

Answer 26

1-IgA, IgG, IgM
2- isohemagglutinins
3- Ab titer to vaccines.

Question 27

Antibody titers to which vaccines can help us identify B-cell defects?

Answer 27

• Diphtheria
• tetanus
• S. Pneumonia
• H. Influenza

Question 28

T-cell defect screening tests include:

Answer 28

• delayed skin test to candida\trichophyton.
• lymphocyte count
• thymus in CXR

Question 29

Name advanced tests used to identify b or c- cell defects

Answer 29

• flow cytometery (CD20, CD19, CD3)

- stimulation of b-cells to produce IgG

Question 30

How to prevent pneumocystitis carnii development in children with significant t-cell defect?

Answer 30

With co-trimaxazole prophylaxis

Question 31

What vaccines should one avoid giving to patients w\B-T cell defects

Answer 31

[live attenuated vaccine]

• oral polio
• vericella
• BCG

Question 32

If i can’t immunize patients with t & b cell defects, what should i do instead?

Answer 32

Immunize family members

- polio: give inactivated polio to prevent transmission of shedded virus in stool.

Question 33

How should you provide blood transfusion for a child with suspected t-cell or SCID?

Answer 33

1- irradiate
2- leukocyte poor
3- virus free products (CMV)

Question 34

What are treatment options for immunodeficiency?

Answer 34

1- stem cell transplant
2- immunoglobulins replacement
3- enzyme replacement
4- gene therapy & genetic counciling

Question 35

Graft vs host disease in T-cell mediated defect can occur after:

Answer 35

1- blood transfusion

2- vaccinations (BCG, Paralytic polio)

Question 36

Differentiate between the clinical presentation of SCID and Agammaglobinemia

Answer 36

SCID: hepatosplenomegaly w\maternal GVHD
Both: poor developed tonsils and lymph nodes

Question 37

What is omenn syndrome?

Answer 37

SCID with graft vs host disease “skin, intestine, liver, spleen, etc..”