Congenital defects of leukocyte number and function Flashcards
Affects both cellular and humoral immunity
Severe Combined Immunodeficiency disorder (SCID)
What does the patient exhibit when he/sha has Severe Combined Immunodeficiency disorder (SCID)
⇣ T cells, poorly functioning B cells, hypogammaglobulinemia
Gamma chain deficiency : mutations in IL2RG gene
Severe Combined Immunodeficiency disorder (SCID)
IL genes associated with SCID
IL 2,4,7,9,15,21
X linked disease
Wiskott-Aldrich Syndrome (WAS)
Caused by one of 400 mutations in the WAS gene
Wiskott-Aldrich Syndrome (WAS)
⇣ B cells, T, NK cells, neutrophils, monocytes are dysfunctional
Wiskott-Aldrich Syndrome (WAS)
Therapies needed in Wiskott-Aldrich Syndrome (WAS)
eltrombopag, romiplostim, Gene therapy
Microdeletion in chromosome band 22q11.2
22q11 Syndromes
Absence or decreased size of thymus
22q11 Syndromes
Low number of T lymphocytes
22q11 Syndromes
22q11 Syndromes
✓DiGeorge Syndrome
✓Sedlackova syndrome
✓Caylor cardiofacial syndrome ✓Shprintzen syndrome
✓Conotruncal anomaly face syndrome
Antibody deficiency
Bruton tyrosine kinase Deficiency
mutation in the gene encoding Bruton tyrosine kinase : ⇣ production of BTK
Bruton tyrosine kinase Deficiency
mutation in the CHS1 LYST gene on chromosome 1q42.1-2 that encodes for a protein that regulates the morphology and function of lysosome- related organelles.
Chédiak – Higashi Syndrome
giant lysosomal granules in granulocytes, monocytes, and lymphocytes
Chédiak – Higashi Syndrome
Inclusions that resembles the fused lysosomal granules in CHS
Pseudo Chédiak – Higashi
Patient with AML,CML, MDS
Pseudo Chédiak – Higashi
Congenital defects of phagocytes
Congenital neutropenia (CN)
Caused by 24 kinds of genes
Congenital defects of phagocytes
Treatment for Congenital defects of phagocytes
antibiotic prophylaxis, G-CSF
defects of motility
Leukocyte Adhesion Disorders
inability of neutrophils and monocytes to move from circulation to the site of inflammation (called extravasation)
Leukocyte Adhesion Disorders
Consequences of having Leukocyte Adhesion Disorders
recurrent severe bacterial & viral infections
The only curative treatment of having Leukocyte Adhesion Disorders
Hematopoietic stem cell transplant
Types of Leukocyte Adhesion Disorders
LAD I, II, III, SDS
Defects of respiratory burst
Chronic Granulomatous disease (CGD)
caused by mutations in genes responsible for proteins that make up the reduced form of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase
Chronic Granulomatous disease (CGD)
patients experience life-threatening catalase-positive bacterial and fungal infections
Chronic Granulomatous disease (CGD)
WHIM syndrome
warts, hypogammaglobulinemia, infections, and myelokathexis syndrome
a defect in intrinsic and innate immunity
WHIM syndrome
WHIM syndrome is a mutation in the
CXCR4 gene located at 2q22
patients experience recurrent bacterial infections and are highly susceptible to human papillomavirus (HPV) infection, which leads to warts, which can be widespread and resistant to treatment
WHIM syndrome
Treatment for WHIM syndrome
anitibiotic prophylaxis, immunoglobulin replacement, G-CSF, CXCR4 receptor antagonist
