LEUKOCYTE DISORDER

• CONGENITAL DEFECTS OF LEUKOCYTE NUMBER AND FUNCTION

  •Severe Combined Immune Deficiency

  • Wiskott-Aldrich Syndrome

  U22ql 1 Syndromes

  • Bruton Tyrosine Kinase Deficiency

  •Chédiak-Higashi Syndrome

  • Congenital Defects of Phagocytes

  •Leukocyte Adhesion Disorders (Defects of Motility)

  • Chronic granulomatous disease (CGD)

  • Myeloperoxidase (MPO) deficiency

  •Lazy leukocyte syndrome

  •Job's syndrome

  •WWHIM Syndrome
• MORPHOLOGIC ABNORMALITIES OF LEUKOCYTES WITHOUT ASSOCIATED

  IMMUNODEFICIENCY

  •Pelger-Huët Anomaly

  • Pseudo- or Acquired Pelger-Huët Anomaly

  • Neutrophil Hypersegmentation

  Alder-Reilly Anomaly

  • May-Hegglin Anomaly

  •Gaucher Disease

  • Niemann-Pick Disease
• SEVERE COMBINED IMMUNE DEFICIENCY

  •  Affects both cellular and humoral
  • decrease in circulating T cells, poorly functioning B cells, hypogammaglobulinemia, and profound clinical manifestations.
  • GAMMA CHAIN DEFICIENCY
  • AUTOSOMAL RECESSIVE ADENOSINE DEAMINASE  (ADA) DEFICIENCY
• GAMMA CHAIN DEFICIENCY

  • X-linked SCID
  • most common form of SCID
  • caused by mutations in the IL2RG gene located at Xq13.1
• AUTOSOMAL RECESSIVE ADENOSINE DEAMINASE  (ADA) DEFICIENCY

  • mutations in the ADA gene located at chromosome 20q13.12
• WISKOTT-ALDRICH SYNDROME

  • a combined immunodeficiency
  • X-linked, WAS gene
  • decreased levels of WASp protein
• 22Q11 SYNDROMES

  • DiGeorge syndrome, autosomal dominant Opitz GBBB, Sedlackova syndrome, Caylor cardiofacial syndrome, Shprintzen syndrome, and conotruncal anomaly face syndrome
• BRUTON TYROSINE KINASE DEFICIENCY

  •X-linked agammaglobulinemia

  •Reductions in all serum immunoglobulin isotypes and profoundly decreased or absent B cells
• CHÉDIAK-HIGASHI SYNDROME

  • Autosomal recessive disease of immune dysregulation
  • CHS1 LYST gene on chromosome 1q42.1-2
  • fused dysfunctional granules
  • partial albinism
• CONGENITAL DEFECTS OF PHAGOCYTES

  A) Elastase deficiency

  B) Cyclic neutropenia (SCN1)

  C) Kostmann disease (SCN3)

  D) X-lined neutropenia

  E) Glycogen storage type 1b

  
• LEUKOCYTE ADHESION DISORDERS

  • Defects of mobility
• LEUKOCYTE ADHESION DEFICIENCY

  • RARE INHERITED IMMUNODEFICIENCY
  • IMMUNE CELLS FAIL to BIND to BLOOD VESSEL WALL
  • CANNOT REACH SITE of INFLAMMATION / TISSUE INJURY
• CHRONIC GRANULOMATOUS DISEASE

  • Decreased ability of neutrophils to undergo a respiratory burst
  • Mutations in genes responsible for reduced form of NADPH
• MYELOPEROXIDASE (MPO) DEFICIENCY

  • Alius-Grignaschi anomaly
  • A deficiency in myeloperoxidase in the primary granules of neutrophils and lysosomes of monocyte
• LAZY LEUKOCYTE SYNDROME

  • Granulocytes do not respond to chemotactic factors
• JOB'S SYNDROME

  • An uncommon condition where phagocytes with normal random movement but the directional motility of these cells are impaired
  • Mutation in the STAT3 gene
• WHIM SYNDROME

  • warts, hypogammaglobulinemia, infections, and myelokathexis syndrome
  • Mutations at CXCR4 gene located at 2q22
• PELGER-HUËT ANOMALY

  • Decreased nuclear segmentation
  • Distinctive coarse chromatin clumping pattern
  • Mutation in lamin beta-receptor gene
  • Spectacle-like ("pince-nez") morphology

  
• PSEUDO- OR ACQUIRED PELGER-HUËT ANOMALY

  • Neutrophils with similar morphology to PHA
  • Neoplastic, infection, drug-induced

  
• NEUTROPHIL HYPERSEGMENTATION

  •  > 5 lobes; larger
  • Megaloblastic anemia

  
• ALDER-REILLY ANOMALY

  •  Granulocytes with large, darkly staining metachromatic cytoplasmic granules
  • Seen in patients with Gargoylism
  • Mucopolysaccharidoses - "Reilly bodies"
  • present in monocytes and lymphocytes
  • NO neutrophilia with left shift
  • NO DOHLE bodies

  
• Gargoylism

  
• MAY-HEGGLIN ANOMALY

  •  Thrombocytopenia, giant platelets, large Döhle body-like inclusions
  • MYH9 gene on chromosome 22q12-13

  
• name it

  A) MAY-HEGGLIN ANOMALY

  
• GAUCHER DISEASE

  • most common of the lysosomal lipid storage diseases
  • beta-glucocerebrosidase
  • is a genetic disorder where fat-laden Gaucher cells build up in areas like the spleen, liver & bone marrow.

  
• NIEMANN-PICK DISEASE

  • accumulation of fat in cellular lysosomes of vital organs
  • acid sphingomyelinase
  • Foam cells and sea-blue histiocytes

  
• TOXIC GRANULATION

  • Dark, blue-black granules in the cytoplasm of neutrophils _ Peroxidase positive
  • Inflammation, infection, patients
  • who have received G-CSF
  • Neutrophils only
  • neutrophilia with left shift PRESENT
  • DOHLE bodies PRESENT

  
• DÖHLE BODIES

  • RNA
  • Found in band and segmented neutrophils
  • Bacterial infections, sepsis, and pregnancy
  • Intracytoplasmic pale blue round or elongated bodies between 1 and 5mm in diameter, usually adjacent to cellular membranes.

  
• CYTOPLASMIC VACUOLATION

  • Phagocytosis
  • Bacterial infection, autophagocytosis, secondary to drug ingestion, acute alcoholism, or excess storage of sample before making blood film
  • Small to large circular clear areas in cytoplasm, rarely may contain organism

  
• BARR BODY

  • Small, well-defined, round projection of nuclear chromatin
  • Found only in females

  
• NUCLEAR AND CYTOPLASMIC CHANGES

  * Pyknotic nuclei

  * Necrotic nuclei

  * Cytoplasmic swelling

  
• Neutrophil has died - Necrotic

  
• Dehydrated nucleus - Pyknotic cell
• REACTIVE : BENIGN

  Stimulated lymphocytes interacting with antigens

  
• ABNORMAL: MALIGNANT

  
• DOWNEY CELLS

  • any of several atypical lymphocytes seen in infectious mononucleosis.
  • "Ballerina Skirt Appearance"
  • Type I cells
  • mature ones with a kidney-shaped or lobulated nucleus and vacuolated, basophilic, foamy cytoplasm
  •  Type Il cells
  • plasmacytoid nuclei with less vacuolated and basophilic

  cytoplasm

  • Type Ill cells
  • finer chromatin pattern and 1 or 2 nucleoli.

  
• name it

  A) Type I

  B) Type II

  C) Type III

  
• name it

  A) Large "atypical" lymphocyte

  B) Normal lymphocyte

  
• Variant lymphocytes

  A) Normal (small)

  B) Atypical

  C) Atypical

  D) Granular (large) (NK cells)

  E) Plasmacytoid

  
• Binucleated Lymphocytes

  • Viral infections
  • > 5% • lymphocytic leukemia or

  leukosarcoma