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SADL Haematology > White cell disorders > Flashcards

White cell disorders Flashcards

1
Q

Name 5 drugs associated with neutropenia

A 
Penicillins
Cephalosporins
Phenothiazine
Dilantin
Phenytoin (most anti-epileptics)
Sulfonamides
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2
Q

Name syndrome and gene:

Hepatic enlargement, growth retardation, neutrophil dysfunction

A

GSD Type 1

G6PT1 (AR)

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3
Q

Name syndrome and gene:

Episodic neutropenia, cardiomyopathy, methylglutaconic aciduria, pancytopenia

A

Barth Syndrome

TAZ1 (XL)

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4
Q

Name syndrome and gene:

Vacoulated erythroid and myeloid precursors, ringed sideroblasts, pancytopenia

A

Pearson Syndrome

mitochondrial

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5
Q

Name syndrome and gene:

Oculocutaneous albinism, giant granules in myeloid cells, platelet defect, neurodegeneration, HLH

A

Chediak-Higashi

LYST (AR)

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6
Q

Name syndrome and gene:

Partial albinism (silver hair), HLH

A 
Griscelli Syndrome II
Rab 27alpha (AR)
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7
Q

WHIM syndrome

A

Warts
Hypogam
Infections
Myelokathexis (neutrophils stuck in marrow)

CXCR4 (AD)

Rx: Pelrixafor

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8
Q

Name syndrome and gene:

Lymphopenia/neutropenia, dwarfism, fine sparse hair

A

Cartilage hair hypoplasia

RMRP (AR)

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9
Q

Leukocyte adhesion defect

  • clinical manifestations
  • infectious organisms
A 
Delayed separation of umbilical cord
Neutrophilia w/o pus
Skin and periodontal infections
rectal abscess
sepsis
pneumonia

S. aureus, Pseudomonas, Proteus, E. coli, Klebsiella, Candida, Aspergillus

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10
Q

Leukocyte adhesion defect

  • genetics
  • treatment
A

LAD1 - CD18
LAD2 - CD 15s (Sialyl Lewis)
LAD3 - FERMT3 (switches on Integrins)

Rx: Oral care, prophylactic cotrimoxazole,
HSCT for severe cases
G-CSF does NOT work

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11
Q

Specific granule deficiency

  • gene
  • diagnosis
A

Defect in CEBPalpha (AR)

No specific granules, mild neutropenia with bi-lobed neutrophils

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12
Q

CGD

  • genetics
  • diagnosis
A

gp91phox - XL
gp22phox, p47phox, p67 phox all AR

Diagnosis: DHR (flow-based), sequencing

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13
Q

CGD

  • clinical
  • treatment
A

Recurrent infections
liver abscess and osteo
S. aureus and Aspergillus
Chronic granulomas

Rx:
Prophy with sulfa and itraconazole
Prophy IFN gamma (enhance nonoxidative phagocytosis)
HSCT

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14
Q

Child with Candida albicans sepsis and diabetes

A

MPO deficiency (AR)

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15
Q

List causes of leukocytosis

A
  1. Physiologic (newborn, exercise)
  2. Acute infection
  3. Metabolic (DKA, burns, seizures)
  4. Drugs (steroids, epi)
  5. Poisoning (lead)
  6. Acute hemorrhage
  7. Neoplastic
  8. Connective tissue disease (RA, IBD)
  9. Hematologic disease (leukemia, splenectomy, transfusion, hemolytic anemia, etc)
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16
Q

Eczematous skin lesions, sinopulmonary infections, high igE and eosinophilia,
Coarse facies and retain primary dentition

A

Hyper IgE syndrome (Job’s)

STAT3, TYK2, DOCK8

Supportive care, prophylaxis and HSCT

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17
Q

1 year old with regression of milestones, hepatosplenomegaly and cytopenias. BM shows crumpled paper appearance

A

Gaucher’s disease

Mutation in glucoceribrosidase (AR)

Type 1 does not involve CNS

Diagnosis: BM phenotype and low GB activity, genetics

Rx: enzyme replacement

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18
Q

Metabolic syndromes associated with neutropenia

A

GSD Type 1
Barth Syndrome
Isovalearic acidemia, MMA, Propionic acidemia

19
Q

Severe congenital neutropenia with neurologic abnormalities

A

Kostman (AR) - HAX1 mutaition

20
Q

Organs affected by eosinophilia

A
  • skin
  • lung
  • GI tract
  • heart
  • CNS is late stage
21
Q

Idiopathic Hypereosinophilic syndrome definition

A
  • persistent (>6m) HE > 1.5
  • evidence of eosinophilic tissue damage
  • no alternate explanation
22
Q

Fungal infection by

1) Profound neutropenia
2) Defective cellular immunity

A

1) Candida, aspergillus

2) Crytococcus, Histoplasma, Coccidiodes

23
Q

SCID with normal T-cell number?

A

Maternal engraftment

24
Q

SCID definition and w/u

A

Lack of functional autologous T-cells (B cells can be present or absent but don’t work because T don’t work)

  • ALC + subsets
  • Lymphocyte proliferation
  • Total immunglobulins +/- specific Ab if vaccinated
25
Q

Which immunodef can you support with enzyme supplementation

A

ADA deficiency

26
Q

Boy with enteroviral meningoencephalitis and no lymph nodes

A

X-Linked Agam

Dx: absent CD19 t-cells
- low/absent IgG (unless maternal present)

27
Q

Boy with low IgG, IgA, and high IgM

  • Diagnosis and genetics
A

HyperIgM, CD40L mutation

can’t class switch from IgM

28
Q

Malignancies associated with HIV

A

Kaposi sarcoma
NHL
Leiomyosarcoma
ALL be

29
Q

What is the differential for neutropenia?

A

1) Decreased production or intrinsic defects
- ethnic
- SCN
- cyclic
- familial benign chronic neutropenia
- metabolic: GSD type Ib, barth syndrome,
- bone marrow failure syndrome: FA, DKC
2) Increased destruction or extrinsic defects
a) congenital: XLA, CVID, hyperIgM, WHIM, IgA def
b) acquired:
- drugs
- infection
- bone marrow infiltration-neoplastic or not
- Immune: drugs, alloimmune, maternofetal, autoimmune, secondary to SLE, lymphoma, RA, HIV
- ALPS
- hypersplenism

30
Q

What is the definition of left shift?

A

> 5% increase in the percentage of immature precursors (usually bands)

31
Q

For neonatal alloimmune neutropenia what target are the antibodies commonly formed against?

A

HNA-1a, HNA-1b and HNA-1c (inherited from the father and not present in the mother)

32
Q

what conditions are associated with secondary autoimmune neutropenia?

A 
Evans syndrome
AIHA
thyroiditis
CVID
SLE
RA
autoimmune thrombocytopenia
33
Q

Define chronic idiopathic neutropenia

A

decreased or ineffective production or excessive apoptosis of neutrophils due to unknown causes. Happens in late childhood or early adulthood, with female predominance

34
Q

What is the definition of hypereosinophilia?

A

eosinophil count >1500 on 2 occasions minimum 4 wks apart

35
Q 
Give a disease name for each of leukocyte dysfunctions:
Adhesion
Chemotaxis
Opsonization
Degranulation
Oxidative metabolism
A 
Adhesion-LAD
Chemotaxis-Hyper IgE
Opsonization-complement deficiency
Degranulation-Chediak Higashi
Oxidative metabolism-CGD, G6PD
36
Q

What test is done to investigate LAD type 1

A

flow cytometry to assess expression of CD11b or CD18 on neutrophil surface

37
Q

What mutation causes hyper IgE syndrome (Job syndrome)?

A

inherited or sporadic AD mutation in STAT3 (JAK activation transcription factor)

38
Q

What clinical findings are associated with Job syndrome?

A

chronic eczema, delay in shedding primary teeth, broad nose, hyperextendible joints, scoliosis, coarse facies
get recurrent staph abscesses

39
Q

what mutation causes chediak higashi?

A

AR defect in LYST1 gene-a lysosomal trafficking protein leading to abnormal granule formation

40
Q

for chediak higashi patients what is the accelerated phase?

A

occurs in 85% patients, have lymphoproliferative infiltration of CNS, nerves, liver, spleen by histiocytes and lymphocytes-HLH

41
Q

What infections are commonly associated with CGD?

A

staph, serratia, salmonella, burkholderia, aspergillus

42
Q

what genetic mutation is most commonly associated with CGD?

A

x-linked mutation in CYBB gene (65% cases)
affects gp91^phox (one of the components of the NADPH oxidase complex)
the other are AR inherited

43
Q

ALPS criteria

A

chronic non-malignant LN
elevated DNT cells

Supportive:

  • elevated B12
  • family history
  • pathogenic mutation in Fas/FasL/Casp10
  • lymphocyte apoptosis assay
44
Q

What are patients with ALPS at risk for?

A

lymphoma

SADL Haematology (13 decks)

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