PIDS

Question 1

Adenosine Deaminase deficiency (ADA deficiency)

Answer 1

T-B-NK-
Low Ig’s
Autosomal Recessive (AR)
15% if SCID

Question 2

Purine Nucleoside Phosphorylase (PNP) Deficiency

Answer 2

T-B+NK+/-
AR
Can lead to autoimmune disorders

Question 3

Artemis Deficiency

Answer 3

T-B-NK+
AR
Low Ig’s
increased risk for lymphomas

Question 4

RAG 1/2 deficiency

Answer 4

T-B-NK+
AR
Low Ig’s
Impaired VDJ recombination

Question 5

Omenn Syndrome

Answer 5

Partially defective RAG 1/2
T-B-NK+
Low Ig’s
High IgE

Question 6

Jak3 Deficiency

Answer 6

T-B+NK-
AR
IgM+
Low IgG and IgA
Defect in IL2R signaling

Question 7

Agammaglobulinemia

Answer 7

T+B-NK+
X linked Recessive (XR)
No Ig’s
B-cell development arrested at pre-B cel stage

Question 8

Isolated IgG subclass deficiencies

Answer 8

T+B+NK+
AR
Some IgG subclasses are low
defects in several genes

Question 9

IgA deficiency

Answer 9

T+B+NK+
AR - higher in males
No IgA
Notmal IgG and IgM
Can lead to allergy and autoimmune diseases
Can lead to anti-IgA IgG's

Question 10

DiGeorge Syndrome

Answer 10

T-B+NK+
AD
Normal Ig’s
CLASSIC TRIAD: cardiac anomalies, hypocalcemia, and hypoplastic thymus

Question 11

Hyper IgM Syndromes (HIGM)

Answer 11

T+B+NK+
XR (2/3) CD40L deficiency
AR (1/3) CD40 deficiency
High IgM
Low IgG and IgA
Problem with class switching
Normal #s of B cells in periphery

Question 12

Transient Hypogammaglobulinemia of Infancy

Answer 12

T+B+NK+
Low IgG/IgA
IgM normal

Question 13

Common Variable Immune Deficiency (CVID)

Answer 13

T+B-/+NK+
AR
low B Cell, Plasma cell, IgG and IgA

Question 14

Common gamma chain deficiency (yc or IL2Ry)

Answer 14

T-B+NK-
XR
Low Ig's
No Active B Cells
Most common form of SCID
IL2Ry deficiency

Question 15

IL7R alpha chain deficiency

Answer 15

T-B+NK+
AR
low Ig’s

Question 16

Bare Lymphocyte Syndrome Type 2 (BLS II)

Answer 16

T+B+NK+
AR
No MHC II expressed

Question 17

MHC Class I Deficiency

Answer 17

Mutation of TAP
Normal Ab
Low NK functioning

Question 18

CD3 Complex Deficiencies

Answer 18

T-B+NK+
AR
low Ig’s

Question 19

IFN-y-IL-12 Axis defect

Answer 19

Defect in:

• IFN-yR
• IL-12R
• p40 of IL-12

Question 20

Th17 Deficiency

Answer 20

mutation in 1 or more of:
IL-17
Il-17R
STAT1
STAT3
AIRE

Question 21

Wiskott-Aldrich Syndrome (WAS)

Answer 21

T-B+NK-
XR
Low IgM
High IgA and IgE
mutation in WASP
Recurrent infections with encapsulated bacteria

Question 22

NK Cell Deficiency (NKD)

Answer 22

> 40 genes known to do this
Classical NKD: absence of NK cells
Functional NKD: defective NK cell activity

Question 23

Leukocyte Adhesion Deficiency (LAD)

Answer 23

Defective CD18
High Neutrophils in blood
Delayed healing (no pus)
Delayed detachment of umbilical cord
Defective migration of phagocytes to infected tissue

Question 24

Chronic granulomas disease (CGD)

Answer 24

Defective NADPH oxidase

impaired bacteria killing

Question 25

G6PD Deficiency

Answer 25

XR
Anemia
form granulomas

Question 26

Chediak-Higahi Syndrome

Answer 26

AR
wheelchair-bound patients
abnormalities in chemotaxis and degranulation
granulomas
Phase 1: susceptibility to infections
Phase 2: lymphoproliferative syndrome

Question 27

C3 deficiencies

Answer 27

indistinguishable from Ab deficiencies

Question 28

Late component deficiencies

Answer 28

C5-C9

Increased susceptibility to Neisseria Meningitis

Question 29

C1-INH deficiency (HAE)

Answer 29

recurrent swelling high bradykinin levels

Question 30

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Answer 30

Failure to regulate MAC formation
High susceptibility of RBC to complement
Deficiency in DAF and/or CD59

Question 31

Deficiencies in TLRs (MyD88)

Answer 31

Impaired signaling of all TLRs but TLR 3
normal resistance to most bacteria
Can be Autosomal Dominant

Question 32

BTK Kinase Deficiency

Answer 32

T+B-NK+
XR
No Ig’s
Defect in heavy chain rearrangement