Congenital defects of leukocyte number and function

Question 1

Affects both cellular and humoral immunity

Answer 1

Severe Combined Immunodeficiency disorder (SCID)

Question 2

What does the patient exhibit when he/sha has Severe Combined Immunodeficiency disorder (SCID)

Answer 2

⇣ T cells, poorly functioning B cells, hypogammaglobulinemia

Question 3

Gamma chain deficiency : mutations in IL2RG gene

Answer 3

Severe Combined Immunodeficiency disorder (SCID)

Question 4

IL genes associated with SCID

Answer 4

IL 2,4,7,9,15,21

Question 5

X linked disease

Answer 5

Wiskott-Aldrich Syndrome (WAS)

Question 6

Caused by one of 400 mutations in the WAS gene

Answer 6

Wiskott-Aldrich Syndrome (WAS)

Question 7

⇣ B cells, T, NK cells, neutrophils, monocytes are dysfunctional

Answer 7

Wiskott-Aldrich Syndrome (WAS)

Question 8

Therapies needed in Wiskott-Aldrich Syndrome (WAS)

Answer 8

eltrombopag, romiplostim, Gene therapy

Question 9

Microdeletion in chromosome band 22q11.2

Answer 9

22q11 Syndromes

Question 10

Absence or decreased size of thymus

Answer 10

22q11 Syndromes

Question 11

Low number of T lymphocytes

Answer 11

22q11 Syndromes

Question 12

22q11 Syndromes

Answer 12

✓DiGeorge Syndrome
✓Sedlackova syndrome
✓Caylor cardiofacial syndrome ✓Shprintzen syndrome
✓Conotruncal anomaly face syndrome

Question 13

Antibody deficiency

Answer 13

Bruton tyrosine kinase Deficiency

Question 14

mutation in the gene encoding Bruton tyrosine kinase : ⇣ production of BTK

Answer 14

Bruton tyrosine kinase Deficiency

Question 15

mutation in the CHS1 LYST gene on chromosome 1q42.1-2 that encodes for a protein that regulates the morphology and function of lysosome- related organelles.

Answer 15

Chédiak – Higashi Syndrome

Question 16

giant lysosomal granules in granulocytes, monocytes, and lymphocytes

Answer 16

Chédiak – Higashi Syndrome

Question 17

Inclusions that resembles the fused lysosomal granules in CHS

Answer 17

Pseudo Chédiak – Higashi

Question 18

Patient with AML,CML, MDS

Answer 18

Pseudo Chédiak – Higashi

Question 19

Congenital defects of phagocytes

Answer 19

Congenital neutropenia (CN)

Question 20

Caused by 24 kinds of genes

Answer 20

Congenital defects of phagocytes

Question 21

Treatment for Congenital defects of phagocytes

Answer 21

antibiotic prophylaxis, G-CSF

Question 22

defects of motility

Answer 22

Leukocyte Adhesion Disorders

Question 23

inability of neutrophils and monocytes to move from circulation to the site of inflammation (called extravasation)

Answer 23

Leukocyte Adhesion Disorders

Question 24

Consequences of having Leukocyte Adhesion Disorders

Answer 24

recurrent severe bacterial & viral infections

Question 25

The only curative treatment of having Leukocyte Adhesion Disorders

Answer 25

Hematopoietic stem cell transplant

Question 26

Types of Leukocyte Adhesion Disorders

Answer 26

LAD I, II, III, SDS

Question 27

Defects of respiratory burst

Answer 27

Chronic Granulomatous disease (CGD)

Question 28

caused by mutations in genes responsible for proteins that make up the reduced form of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase

Answer 28

Chronic Granulomatous disease (CGD)

Question 29

patients experience life-threatening catalase-positive bacterial and fungal infections

Answer 29

Chronic Granulomatous disease (CGD)

Question 30

WHIM syndrome

Answer 30

warts, hypogammaglobulinemia, infections, and myelokathexis syndrome

Question 31

a defect in intrinsic and innate immunity

Answer 31

WHIM syndrome

Question 32

WHIM syndrome is a mutation in the

Answer 32

CXCR4 gene located at 2q22

Question 33

patients experience recurrent bacterial infections and are highly susceptible to human papillomavirus (HPV) infection, which leads to warts, which can be widespread and resistant to treatment

Answer 33

WHIM syndrome

Question 34

Treatment for WHIM syndrome

Answer 34

anitibiotic prophylaxis, immunoglobulin replacement, G-CSF, CXCR4 receptor antagonist