Disease

Description

Parvovirus B19 infection

Fifth disease ("slapped cheek"), pure red cell aplasia, hydrops fetalis during pregnancy ; peristent chronic
infection -> aplastic anemia

Cohen Syndrome

COH-1, Chr8q22.2 defect, autosomal recessive, dysmorphism, mental retardation, leukopenia/neutropenia

AR inheritance in LYST gene; defect lysosomal trafficking -> decreased phagocytosis -> susceptibility to
bacterial infections; oculocutaneous albinism -> light sensitivity; defective microbial activity of PMNs ->
inclusions; hepatosplenomegaly, jaundice, neurologic/CNS abnormalities, seizure, anemia,
thrombocytopenia, leukopenia, recurrent pygenic infections

WHIM (warts,
hypogammaglobulinemia,
infection, myelokathexis)

severe chronic leukoepnia, secondary leukocyte retention in bone marrow (myelokathexis); stromal stem
cell factor (SDF-1) mutation; disrupts CXCR-4 interaction necessary for trafficking hematopoietic stem cells;
treatment - bone marrow transplant

Pelger Huet Anomaly

hypogranular neutrophils; Pince nez nuclear shape; congenital form AD inherited mutation in lamin B
receptor in PMN; acquired pseudo-Pelger Huet form: MDS, CML, AML

May-Heggelin Anomaly

Dohle leukocyte w/ giant platelets and macrothrombocytopenia w/ leukocyte inclusions; mild moderate
episodic bleeding, autosomal dominant mutation in MYH9 on chromsome 22q13.1; purpura, epistaxis,
headache, muscle weakness

Alder-Reilley Anomaly

"Gargolyism", "dwarfism", macrocephaly, coarse facies, hearing loss, cornea opacities,

mucopolysaccaridosis, accumulation of clustered, partially degraded protein-carbohydrate complexes within
the lysosomes of neutrophils, homozygous and heterozygous inheritance

Chronic Granulomatous Disease

of Childhood

inability of neutrophils to form reactive oxygen species (ROS) -> cannot destroy ingested bacteria or fungi;
50% X linked recessive (cytochrome p91 - phox) 50% autosomal recessive (NCSF-1); histiocytes proliferate
during infection -> form granulomas; impetigo, eczema, pustules, diarrhea, lymphadenopathy, sinusitis,
treatment: lifelong antibiotics

Leukocyte Adhesion Deficiency

3 subtypes (LAD-1, LAD-2, LAD-3); recurrent soft tissue infections, delayed umbilical cord sloughing,
bleeding diathesis, deficiencies of b2 integrin subunits -> defective adhesion of PMNs to the vessel wall
during rolling/migration

SCID (Severe combined

immunodeficiencies)

FOXN1 mutation in thymic epithelia and skin-> defective thymic epithelial cell function; congenital alopecia
and nail dystrophy and thymic defect; cell development/metabolism/cancer/aging

Omenn Syndrome

defective RAG gene function; defective V(D)J recombination -> near complete lack of T and B lymphocytes
(NK cells not affected); increased susceptibility to opportunistic infections; rashes/eosinophila/enlarged
lymph nodes/rashes/diarrhea; similar to graft v host disease (symptoms of constant T cell activation); autoreactive characteristics; no B cells produced; HLA-identical donor for BMT

APECED (autoimmune
polyendocrinopathy candidasis
ecotodermal dystrophy)

gene mutation in AIRE (autoimmune regulator); have circulating T cells specific for variety of self antigens
and attack cells in many different host tissues; reactive Ab against endocrine gland antigens, liver, skin,
blood components; autosomal recessive

IPEX (immune dysregulation

FOXP3 mutation; differentiation of some TREG cell subsets; CD4+CD25+ TREG cells normal in IPEX but
polyendocrinopathy enteropathy X suppressive function is lacking; autoimmmune polyendocrinopathy, severe allergic inflammation, hemolytic
linked)
anemia, secretory diarrhea, thrombocytopenia (usually early death)
ALPS (autoimmune
lymphoproliferative disorder)

mutations in FAS gene; normally mediates T cell apoptosis but does not happen in ALPS; accumulation
CD4-CD8- T cells in blood and lymphoid organs; lympadenopathy, organomegaly, autoimmune
manifestations, increased risk lymphoma