Which of the following primary immunodeficiency disorders or inborn errors of immunity is an X-liked recessive disorder, characterized by thrombocytopenia, immunodeficiency, and eczema?

Which of the following primary immunodeficiency disorders or inborn errors of immunity shows a decreased T cells, and dysfunctional B, T, and NK cells? Also, here, there is a presence of small and abnormal platelets.

Which of the following primary immunodeficiency disorders or inborn errors of immunity is characterized by Thymic hypoplasia, cardiac anomalies, craniofacial deformities, immune dysfunction, developmental delays, and various other systemic issues like hypocalcemia and autoimmune disorders?

Which of the following primary immunodeficiency disorders or inborn errors of immunity is caused by a mutation in BTK (a protein that promotes B-cell development)?

Which of the following primary immunodeficiency disorders or inborn errors of immunity shows a marked reduction in antibody, absent tonsils, and inability to produce plasma cells; ultimately, a decrease in all immunoglobulin isotypes?

Which of the following primary immunodeficiency disorders or inborn errors of immunity is caused by a mutation in the lyst gene on chromosome 1q42.3, leading to giant fused cytoplasmic granules in various cells?

Which of the following primary immunodeficiency disorders or inborn errors of immunity presents in infancy with partial albinism, recurrent bacterial infections, mild bleeding, easy bruising, and progressive neurological impairment?

Which of the following PSEUDO primary immunodeficiency disorders or inborn errors of immunity resembles the fused lysosomal granules in CHS and most often seen in acute myeloid leukemia (AML)?

- ANC of <0.5 x 109 .

- 50-60% of cases are due to a mutation in the neutrophil elastase gene (ELANE).

Which of the following congenital defects of phagocyte is also caused by ELANE mutations (but less severe) leading to episodes of severe neutropenia (less than 0.2 × 10⁹/L) with absolute monocytosis occurring in approximately 21-day cycles lasting 3 to 5 days?

Which of the following congenital defects of phagocyte is caused by mutations in the SBDS gene, leading to neutropenia, pancreatic insufficiency, malabsorption, and skeletal abnormalities?

Which of the following congenital defects of phagocyte is a rare autosomal recessive disorders characterized by the inability of neutrophils and monocytes to move from peripheral circulation to sides of infection?

Which of the following congenital defects of phagocyte is caused by the decreased ability of monocytes and granulocytes to kill phagocytized bacteria and yeast (failure in respiratory burst and failed production of antibacterial superoxide anions and reactive oxygen species)?

Which of the following congenital defects of phagocyte is the most common inherited disorder of phagocytes?

Which of the following congenital defects of phagocyte catalyzes the conversion of H2O2 to HOCl and other reactive oxygen species, aiding in the killing of phagocytized bacteria, yeast, and in forming neutrophil extracellular traps (NETs)?

Which of the following congenital defects of phagocyte is characterized by impaired ability of neutrophils to eUectively kill microorganisms?

Which lysosomal storage disorder is characterized by a deficiency of sphingomyelinase (accumulation of sphingomyelin)?

Which lysosomal storage disorder is common in Ashkenazi Jews?

Which lysosomal storage disorder involved foam cell?

Which lysosomal storage disorder involves defect or deficiency in β-glucocerebrosidase (Accumulation of glucocerebroside)?

Which lysosomal storage disorder is most common of the lipidoses?

Which lysosomal storage disorder has crumpled tissue paper or onion-like appearance?

Large macrophage with small eccentric nucleus.

crumpled tissue paper or onion-like appearance?

Hurler syndrome

Deficiency in Alpha-L-iduronidase

Hunter syndrome

Deficiency in Iduronate-2-sulfatase

Sanfilippo syndrome

Morquio syndrome

Which subtype of MPS III is characterized by a deficiency in N-sulfoglucosamine sulfohydrolase?

Which subtype of MPS III is characterized by a deficiency in Alpha-Nacetylglucosaminidase?

Which subtype of MPS III is characterized by a deficiency in Heparan-alphaglucosaminide N-acetyltransferase?

Which subtype of MPS IV is characterized by a deficiency in N-acetylgalactosamine-6- sulfatase AS: Keratan sulfate (KS), Chondroidin sulfate (CS) ?

Which subtype of MPS IV is characterized by a deficiency in Beta-galactosidase?

Maroteaux-Lamy syndrome

Sly disease

Natowicz syndrome

Deficiency in Arylsulfatase B

Deficiency in Beta-glucuronidase

Deficiency in Hyaluronidase-1

The nucleus has > 6 lobes

Associated conditions: Megaloblastic anemia Myelodysplastic syndromes Hereditary neutrophil hypersegmentation, Myelokathexis

Most common WBC genetic disorder.

Results from failure of the neutrophil nucleus to segment.

Result from a mutation in the lamin β-receptor gene.

May be unilobed or bilobed.

Pseudo type of this disease is characterized by hyposegmented and hyogranular cells (contrary to the true version of the disease, which has normal granulation). This is usually seen in AML, chronic myeloproliferative neoplasms, MDS, HIV infection, TB, M. pneumoniae infection.

Characterized by dense azurophilic granulation in all types of leukocytes

Results from abnormal deposition and storage of mucopolysaccharides

An autosomal dominant disorder characterized by the presence of grey-blue spindle-shaped inclusions (Dohle body-like inclusions) in the cytoplasm of granulocytes and monocytes.

Associated conditions: Pregnancy, severe burns, aplastic anemia, scarlet fever, other infectious diseases, and administration of toxic agents

Altered primary granules that are present due to rapid cell maturation.

Blue-black cytoplasmic granules in neutrophils.

Seen in severe infections and chemical poisoning, such as lead poisoning

Round/oval bluestaining cytoplasmic inclusions found in neutrophils (arranged in parallel rows and consists of ribosomal RNA or rRNA)

Includes toxic vacuolation, and autophagic vacuolation

Indicate phagocytic activity, are often seen with infections, and may coalesce or contain microorganisms, sometimes distorting cell morphology

Autophagic vacuoles (2 μm in diameter) form during cell death and are associated with conditions like hypoxia, chemical exposure, and VEXAS syndrome, often seen with delayed blood film preparation.

Smaller

Round

Positive (+) in Periodic Acid Schiff

Contains rRNA

Larger

Spindle-shaped

Negative (-) in Periodic Acid Schiff

Contains mRNA

Human monocytic ehrlichiosis

Human granulocytic anaplasmosis

Candidiasis

Histoplasmosis

Described as bluishgreen or mostly green amorphous, refractile, shiny bodies of irregular shape, size, and number, contained in cytoplasm of neutrophils.

A sign of impending death in most cases.

This monocytic morphology is associated with infections (including COVID-19), recovery from myelosuppression, and administration of GMCSF

Difficult to differentiate from benign reactive monocytes.

Eosinophils are fragile and often rupture during slide preparation.

Regardless, guidelines state that they are to be counted along with intact eosinophils.

water-soluble and easily washes away during staining. - Also associated with myeloid neoplasms.

Commonly a neutrophil that has ingested the antibody-coated nucleus of another neutrophil.

Commonly a neutrophil that has ingested the antibody-coated nucleus of another neutrophil.

- Similar to normal lymphocytes, but the nucleus is notched, lobulated, and cloverleaf-like

Abnormal plasma cell with intensely eosinophilic or “flaming” cytoplasm.

Associated condition: - IgA myeloma

a.k.a. Thesaurocyte

- Abnormal plasma cells with cytoplasm filled with Russell bodies.

Associated condition: - Multiple myeloma

a.k.a. Morula/Mott cell

Plasma cell cytoplasmic inclusions that appear like vacuoles containing aggregates of immunoglobulins.

Small lymphocytes (B-cell lineage) with little cytoplasmic projections.

Tartrate Resistant Acid Phosphatase (TRAP) Positive (+)

Annexin A is specific to HCL and can be used to differentiate HCL from other B-cell neoplasms.

A monocyte that has ingested a whole lymphocyte or a nucleus.

May be seen in drug sensitivity

A large lymphoid cell which may demonstrate two nuclei (with eosinophilic nucleoli) and an abundant cytoplasm).

With “Owl’s eye” appearance.

- Its presence is the definitive histologic characteristic of Hodgkin's lymphoma

- Its presence is the definitive histologic characteristic of Hodgkin's lymphoma

Seen in Adult T cell leukemia or lymphoma

s a post thymic neoplastic disorder of T cells that is associated with retroviral infection by the Human T lymphotropic virus type I (HTLV-1).

Seen in Nodular Lymphocyte Predominant Hodgkin’s Lymphoma (NLPHL)

Instead of the RS cell found in CHL, the malignant cell is a lymphocytic histiocytic (L&H) variant.

The L&H tumor cells are large, with scant cytoplasm and a folded single nucleus, and are labeled

L&H cells

L&H cells

Characteristic cell found in Mycosis fungoides and Sezary syndrome. They are the most familiar form of cutaneous T-cell lymphoma.

The malignant T-cells in these conditions have an abnormal appearance (scant cytoplasm, cerebriform and folded nucleus, variably condensed chromatin, and inconspicuous nucleoli.

The malignant T-cells in these conditions have an abnormal appearance (scant cytoplasm, cerebriform and folded nucleus, variably condensed chromatin, and inconspicuous nucleoli.

A cell with bundles of Auer Rods

Auer rods - Linear projections of primary granules.

Seen in certain acute myeloid leukemia (AML) types

Seen in certain acute myeloid leukemia (AML) types