Non-malignant Leukocyte Disorders Flashcards
Gamma chain deficiency (Leukocyte receptor for IL-2, 4, 7, 9, 15, 21)
X-Linked SCID
Signals from the interleukins are disrupted
X-Linked SCID
X-Linked SCID:
Gamma chain deficiency (Leukocyte receptor for IL-__,__,__,__,__,__)
2, 4, 7, 9, 15, 21
Adenosine deaminase (ADA) deficiency
Autosomal Recessive SCID
Leads to accumulation of adenosine, which is lymphotoxic
- Decreased in T, B, and NK cells
Autosomal Recessive SCID
Autosomal Recessive SCID
Decreased in ___, ___, and ___ cells
T, B, and NK cells
Rare X-linked disease caused by
one of more than 400 mutations in
the WAS gene
WISKOTT-ALDRICH SYNDROME
- T cells are decreased
- B cells, T cells and NK cells, neutrophils and
monocytes are dysfunctional
WISKOTT-ALDRICH SYNDROME
There is a risk of bleeding due to thrombocytopenia and small, abnormal platelets
WISKOTT-ALDRICH SYNDROME
Includes Di George syndrome, Opitz GBBB, Sedlackova syndrome
22Q11 DELETION SYNDROMES
There is absence or decreased size of the thymus and low numbers of T cells
22Q11 DELETION SYNDROMES
X-linked agammaglobulinemia / “Bruton’s agammaglobulinemia”
BRUTON TYROSINE KINASE DEFICIENCY
Primary immunodeficiency disease characterized by reductions in all serum
immunoglobulin isotypes and profoundly decreased or absent B cells
- No appearance of B cells, hence, no plasma cells will be formed
BRUTON TYROSINE KINASE DEFICIENCY
Rare autosomal recessive disease of immune dysregulation
CHEDIAK-HIGASHI SYNDROME
Leukocytes exhibit abnormally large lysosomes, containing fused dysfunctional granules
CHEDIAK-HIGASHI SYNDROME
