Primary Immune Deficiencies Presentations

Question 1

What are the clinical features of

Answer 1

Fever
Irritability
Infections
Positive NBT

Question 2

What are the clinical features of Leucocyte Adhesion deficiency?

Answer 2

Recurrent infections
Poor wound healing
Delayed cord detachment

Question 3

What are the clinical features of Cyclic Neutropenia?

Answer 3

Fever

Recurrent infections

Question 4

What are the clinical features of Chronic Granulomatous Disease?

Answer 4

Granulomas

Question 5

What are the clinical features of Reticular Dysgenesis?

Answer 5

Infections and pancytopaenia symptoms

Question 6

What are the clinical features of X linked SCID?

Answer 6

Infections

Question 7

What are the clinical features of ADA deficiency?

Answer 7

Infections

Question 8

What are the clinical features of Brutons?

Answer 8

Infections

Question 9

What are the clinical features of DiGeorge’s?

Answer 9

CATCH-22

Cardiac abnormalities (TOF)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcaemia/ Hypoaparathyroidism
22.q11.2 deletion

Question 10

What are the clinical features of Hyper IgM syndrome?

Answer 10

PCP pneumonia
Cyanosis
Fever/ cough

Question 11

What are the clinical features of AIDS?

Answer 11

AIDS defining illnesses

History of flu like condition

Question 12

What are the clinical features of Wiskott Aldrich Syndrome?

Answer 12

Petechiae
Eczema
Ear infections

Question 13

What are the clinical features of CVID?

Answer 13

Infections

Question 14

What are the clinical features of Bare Lymphocyte Syndrome (T2)?

Answer 14

Infections and growth abnormalities

Question 15

What are the clinical features of Selective IgA deficiency?

Answer 15

URTI and GI infections (mucosal defence)