Immunodeficiencies Flashcards
(23 cards)
B cell Deficiency
recurrent sinopulmonary infections chronic GI infections esp. encapsulated organisms S. pneumo, Hib, S. aureus (b/c no IgM, IgG) Enterovirus (b/c no IgA) Protozoa like Giardia (b/c no IgA, IgE)
T cell Deficiency
intracellular organisms and opportunistic infections
bacteria: salmonella, syphilis
mycobacteria
viruses (CMV, HSV, VZV, EBV)
Fungi (crypto, aspergillus, cocci, candida, histo)
Protozoa (PJP, toxo)
think HIV/AIDS pts
Phagocytic Disorder
skin and organ abscesses
bacteria: esp staph aureus
Catalase + organisms: s aureus, serratia, aspergillus, chromobacterium, burkholderia, nocardia
Complement Deficiency
overwhelming sepsis
early complement: pyogenic infxn
late complement: neisseria mening.
screen with CH50
What are the B cell immunodeficiencies
X-linked agammmaglobulinemia CVID specific antibody deficiency Hyper-IgM deficiency X-linked lymphoproliferative syndrome Transient hypogammaglob of infancy
X-linked Agammaglobulinemia
B cell deficiency
aka Bruton’s
No mature B cells - no antibodies
Encapsulated organisms, sinopulm infxn, enterovirus, giardia
Dx: flow-cytometry shows no mature B cells (CD19+)
no abs, no ab fxn
Common variable immunodeficiency
B cell deficiency
aka CVID
age 5-10 onset
mature B cells can’t differentiate into plasma cells
Encapsulated organisms, sinopulm infxn, enterovirus, giardia
sacroid likd dz with noncaseating granulomas; sprue-like illness
Dx: Flow cytometry shows present B cells (CD19+) but LOW antibody levels, poor ab fxn
*higher risk for autoimmune disease and lymphomas
Specific Antibody Deficiency
B cell deficiency
Normal mature B cells, normal antibody levels, POOR antibody response
Encapsulated organisms, sinopulm infxn, enterovirus, giardia
Dx: flow cytometry shows B cells present, nml ab levels, but poor ab function (no response to vaccines)
X-linked Hyper-IgM Syndrome
B cell deficiency
Inability for B cells to class-switch from IgM to other classes; T cells cannot interact with macrophages
Defect in CD40L
normal/high levels of IgM; low levels IgG and IgA
Encapsulated organisms, sinopulm infxn, enterovirus, giardia; also PJP PNA because T cells cant interact
Dx: Flow cytometry lacks CD40L
X-linked Lymphoproliferative Syndrome
B cell deficiency
AKA Duncan syndrome
overwhelming, near-fatal infections with EBV
fulminant hepatitis
bone marrow failure
progression to lymphoma
Transient Hypogammaglobulinemia of Infancy
dx of exclusion
abnormal prolongation of physiologic hypogammaglobulinemia
infants have delayed production of IgG
Low IgG levels but normally functioning
What are the combined B and T cell deficiencies?
Severe combined immunodeficiency Wiskott-Aldrich syndrome Ataxia - Telangiectasia Bloom syndrome Nijmegen breakage syndrome
SCID
combo deficiency
eczematous-like skin lesions chronic lung infections chronic diarrhea FTT absent thymus shadow lymphopenia sepsis
two main types: X-linked SCID and adenosine deaminase deficiency
X-linked SCID
type of SCID
IL-2R gammaa defect
most common form (50%)
T-/B+/NK-
Adenosine deaminase deficiency
type of SCID
T-/B-/NK-: toxic metabolites kill off all cells
autosomal recessive
dx: low ADA in RBCs
Wiskott-Aldrich Syndrome
Combo deficiency EXIT Eczema X-linked Immunodeficiency Thrombocytopenia
*small platelets on peripheral smear
Ataxia Telangiectasia
Combo deficiency
Ataxia
Telangiectasia
Immunodeficiency
autosomal recessive
higher risk of cancer
*high alpha-fetoprotein
what are the phagocyte disorders
Neutropenia syndromes: Kostmann syndrome, severe chronic neutropenia, cyclic neutropenia
Chemotaxis defects: LAD
Killing defects: Job syndrome (hyper IgE), Chediak Higashi, Chronic granulomatous disease
Leukocyte adhesion defect type 1
Phagocyte deficiency
defect in CD18
severe leukocytosis
delayed umbilical cord separation
sterile abscesses
Leukocyte adhesion defect type 2
Phagocyte deficiency
defect in Sialyl Lewis X moiety
ID
poor growth and abnormal facies
sterile abscesses
Bombay blood type
Job syndrome
Phagocyte deficiency
STAT 3 mutation
IgE usually elevated but not necessarily
recurrent abscesses, eczema, scoliosis, hyperextensible, delayed eruption of primary teeth, pneumatoceles
coarse facies
osteopenia/osteoporosis resulting in pathological fractures
Chediak Higashi syndrome
phagocyte deficiency
impaired lysosomal degranulation
recurrent cutaneous and sinopulm infections
partial oculocutaneous albinism
ID progressive peripheral neuropathy
*periph smear shows giant granules
Chronic granulomatous disease
phagocyte deficiency
Inability to generate respiratory burst
recurrent organ and skin abscesses
catalase + organisms
walled off granulomas form
Dx: DHR ( hihydrorhodamine oxidation test)
