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
Giant lysosomal granules are present in granulocytes, monocytes, and lymphocytes
CHEDIAK-HIGASHI SYNDROME
Patients often have bleeding issues as a result of abnormal dense granules in platelets
CHEDIAK-HIGASHI SYNDROME
Inability of neutrophils and monocytes to move from the circulation to the site of inflammation (EXTRAVASATION)
LEUKOCYTE ADHESION DISORDERS
Inability of neutrophils and monocytes to move from the circulation to the site of
inflammation (_______)
EXTRAVASATION
Defective chemotaxis or movement of WBCs
LEUKOCYTE ADHESION DISORDERS
60% of cases are X-linked recessive / 40% are autosomal recessive
CHRONIC GRANULOMATOUS DISEASE (CGD)
Decreased ability of neutrophils to undergo a respiratory burst after phagocytosis of foreign organisms
CHRONIC GRANULOMATOUS DISEASE (CGD)
Defective respiratory burst; can engulf but cannot digest especially those catalase positive organisms
CHRONIC GRANULOMATOUS DISEASE (CGD)
- Warts, Hypogammaglobulinemia, Infections, and Myelokathexis syndrome
WHIM SYNDROME
- Defective movement of WBCs between the bone marrow and peripheral blood
WHIM SYNDROME
