PIDS Flashcards
Adenosine Deaminase deficiency (ADA deficiency)
T-B-NK-
Low Ig’s
Autosomal Recessive (AR)
15% if SCID
Purine Nucleoside Phosphorylase (PNP) Deficiency
T-B+NK+/-
AR
Can lead to autoimmune disorders
Artemis Deficiency
T-B-NK+
AR
Low Ig’s
increased risk for lymphomas
RAG 1/2 deficiency
T-B-NK+
AR
Low Ig’s
Impaired VDJ recombination
Omenn Syndrome
Partially defective RAG 1/2
T-B-NK+
Low Ig’s
High IgE
Jak3 Deficiency
T-B+NK- AR IgM+ Low IgG and IgA Defect in IL2R signaling
Agammaglobulinemia
T+B-NK+
X linked Recessive (XR)
No Ig’s
B-cell development arrested at pre-B cel stage
Isolated IgG subclass deficiencies
T+B+NK+
AR
Some IgG subclasses are low
defects in several genes
IgA deficiency
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
DiGeorge Syndrome
T-B+NK+
AD
Normal Ig’s
CLASSIC TRIAD: cardiac anomalies, hypocalcemia, and hypoplastic thymus
Hyper IgM Syndromes (HIGM)
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
Transient Hypogammaglobulinemia of Infancy
T+B+NK+
Low IgG/IgA
IgM normal
Common Variable Immune Deficiency (CVID)
T+B-/+NK+
AR
low B Cell, Plasma cell, IgG and IgA
Common gamma chain deficiency (yc or IL2Ry)
T-B+NK- XR Low Ig's No Active B Cells Most common form of SCID IL2Ry deficiency
IL7R alpha chain deficiency
T-B+NK+
AR
low Ig’s
Bare Lymphocyte Syndrome Type 2 (BLS II)
T+B+NK+
AR
No MHC II expressed
MHC Class I Deficiency
Mutation of TAP
Normal Ab
Low NK functioning
CD3 Complex Deficiencies
T-B+NK+
AR
low Ig’s
IFN-y-IL-12 Axis defect
Defect in:
- IFN-yR
- IL-12R
- p40 of IL-12
Th17 Deficiency
mutation in 1 or more of: IL-17 Il-17R STAT1 STAT3 AIRE
Wiskott-Aldrich Syndrome (WAS)
T-B+NK- XR Low IgM High IgA and IgE mutation in WASP Recurrent infections with encapsulated bacteria
NK Cell Deficiency (NKD)
> 40 genes known to do this
Classical NKD: absence of NK cells
Functional NKD: defective NK cell activity
Leukocyte Adhesion Deficiency (LAD)
Defective CD18 High Neutrophils in blood Delayed healing (no pus) Delayed detachment of umbilical cord Defective migration of phagocytes to infected tissue
Chronic granulomas disease (CGD)
Defective NADPH oxidase
impaired bacteria killing
G6PD Deficiency
XR
Anemia
form granulomas
Chediak-Higahi Syndrome
AR wheelchair-bound patients abnormalities in chemotaxis and degranulation granulomas Phase 1: susceptibility to infections Phase 2: lymphoproliferative syndrome
C3 deficiencies
indistinguishable from Ab deficiencies
Late component deficiencies
C5-C9
Increased susceptibility to Neisseria Meningitis
C1-INH deficiency (HAE)
recurrent swelling high bradykinin levels
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Failure to regulate MAC formation
High susceptibility of RBC to complement
Deficiency in DAF and/or CD59
Deficiencies in TLRs (MyD88)
Impaired signaling of all TLRs but TLR 3
normal resistance to most bacteria
Can be Autosomal Dominant
BTK Kinase Deficiency
T+B-NK+
XR
No Ig’s
Defect in heavy chain rearrangement
