Spencer Eliason Flashcards
Dr. Shnyra's Immunodeficiencies
1
Q
ADA deficiency
A
T-B-NK-
Ab: M-G-A-
Autosomal
2
Q
PNP deficiency
A
T-B-NK+/-
Ab: normal
Autosomal
3
Q
Artemis
A
T-B-NK+
Ab: Can be low
Autosomal
4
Q
RAG1/RAG2
A
T-B-NK+
Ab: M-G-A-
Autosomal
5
Q
Jak3
A
T-B+NK-
Ab: M+G-A-
Autosomal
6
Q
BTK agammaglobulinemia
A
T+B-NK+
Ab: M-G-A-
X-linked
7
Q
Agammaglobulinemia
A
T+B-NK+
Ab: M-G-A-
Autosomal
8
Q
IgA deficiency
A
T+B+NK+
Ab: M+G+A-
Autosomal; higher in males
9
Q
IgG subclass deficiency
A
T+B+NK+
Ab: M+G+A+
Autosomal; asymptomatic
10
Q
Hyper-IgM syndrome
A
T+B+NK+
Ab: M+G-A-
X-linked and autosomal
11
Q
Transient Hyper-IgM
A
T+B+/-NK+
Ab: M+G-A-
N/A
12
Q
Common gamma chain
A
T-B+NK+
Ab:M+G-A-
X-linked
13
Q
IL-7R alpha chain
A
T-B+NK+
Ab: M+G-A-
Autosomal recessive
14
Q
BLS II
A
CD4 lymphopenia
hypogammaglobulinemia
Autosomal recessive
15
Q
MHC class I
A
CD8 low functional NK deficiency
M+G+A+
Autosomal recessive
