Last lecture Flashcards
ADA
Trait
Autosomal recessive
Males/ Females
T-, B-, NK-
Common y chain deficiency
X-linked recessive
Boy
T-, B+, NK-
Jak3
Autosomal recessive
T-, B+, NK-
Wiskott-Aldrich Syndrome
X-linked recessive
Males
Decrease T cells
IgG= normal
IgM= low
IgA and IgE= high
IPEX
X-linked
X-linked Bruton Agammaglobulinemia
X-linked
low IgG, IgA, IgM
arrests at pre-B
Autosomal Recessive Agammaglobulinemia
BLNK
Ig-alpha
u chain
_5 chain
Common Variable Immune Deficiency
Autosomal
Low IgG, IgA
Normal/low IgM
Hyper IgM Syndromes (HIGM)
2 kinds:
Xlinked–> mutation in CD40L
AR–> mutation in CD40
Transient hypogammaglobulinemia of Infancy
IgM can be normal
IgG, IgA is low
Chronic Granulomatous Disease
more common in
males
Myeloperoxidase (MPO) Deficiency
Autosomal recessive
G6PD Deficiency
X-linked recessive
Chediak-Higashi Syndrome
Autosomal recessive