- X-linked agammaglobulinemia (XLA) - Hyper IgM - CVID

Immunodeficiencies Flashcards by Ana Sofía Caballero Zambrano

Name 2 innate immunity defects

Chronic granulomatous disease
Leukocyte adhesion deficiency

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Chronic granulomatous disease mechanism

NADPH oxidase complex deficiency = less superoxide

Less respiratory burst = granuloma formation

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Tests for chronic granulomatous disease

Dihydrorhodamine flow cytometry DHR 123
Nitro-blue

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Chronic granulomatous disease signs & symptoms (5)

Osteomyelitis
Lymphadenopathy
Pneumonia
Abscesses (liver, visceral)
Granulomas: skin, GI, GU = obstruction

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Chronic granulomatous disease lab findings (2) (Ig, RBC)

HYPERgammaglobulinemia
Anemia

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Chronic granulomatous disease infections

CATALASE +
- S. aureus
- B.cepacia
- Nocardia spp.
- Aspergillus
- Candida

CATs have BeeN PLACESS = CATalase, Burkholderia, Nocardia, Pasteurella, Listeria, Aspergillus, Candida, E.coli, Staphylococcus, Serratia

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Chronic granulomatous disease treatment

Prophylactic antibiotics (TMP-SMX) or antifungals (itraconazole)

Glucocorticoids
IFN-y therapy

Severe: stem cell transplant

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Effect of NADPH oxidase

Converts to NADP+ —> makes superoxide O2- —> H2O2 —> broken down by catalase into H20 and O2

Therefore: more catalase = more breakdown of H2O2 = less H2O2 = weak respiratory burst

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Chronic granulomatous disease hereditability

X-linked or AR

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LAD mechanism

LFA-1/CD18 abscence
Beta-2 integrin for neutrophil adhesion

Phagocytes are trapped in circulation

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LAD hereditability

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LAD signs & symptoms (4)

MOUTH skin and mucosa
Delayed umbilical cord separation >10 days
Omphalitis
Impaired wound healing

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LAD lab findings (1)

Neutrophilia

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LAD infections

Bacterial
Non-suppurative
- S.aureus
- P.aureginosa
- Klebisella

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LAD treatment

Prevent infection
Bone marrow transplant
Prophylactic antibiotics

Life expectancy without tx = extremely short

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LAD types

LAD1: b2 deficiency
LAD2: Sialyl-Lewis X deficiency (rolling)
LAD3: b1, b2, and b3 deficiency = no leukocyte activation nor platelet binding (HEMORRHAGIC)

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Humoral defects (3)

X-linked agammaglobulinemia (XLA)
Hyper IgM
CVID

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XLA mechanism

BTK deficiency = no mature B cells

Stop in pre-B or pro-B

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XLA signs & symptoms, age they start

START IN 3-6 MONTHS
- Lymphoid hyperplasia
- Severe, recurrent pyogenic infections —> pneumonia, otitis media, bronchitis, sinusitis

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XLA infections

ENCAPSULATED bacteria
- S.pneumoniae
- N.meningitidis
- H.influenzae

ENTEROVIRUS
- Coxsackie
- Polio

GIARDIA LAMBLIA

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XLA treatment

IVIG monthly
Prophylactic antibiotics

Which immunodeficiencies can’t receive live vaccines? Ex. Polio

XLA
SCID

Hyper IgM mechanisms (2)

CD40L deficiency
- Less in Th cells = disrupt B cell class switch

AID dysfunction
- Affect IgH chain recombination
- Increase germinal centers = GIANT

Hyper IgM signs & symptoms (4) and age

CHILDHOOD
- Recurrent severe pyogenic infections
- Respiratory
- Enteritis
- Hepatitis

Hyper IgM lab findings

Neutropenia IgM only

Hyper IgM infections

SINOPULMONARY OPPORTUNISTIC - P.jirovecci - Histoplasma - Cryptosporidium = chronic diarrhea - CMV = pneumonia & hepatitis - S.pneumoniae - Cryptococcus - Mycobacteria - Giardia lamblia

Hyper IgM treatment (4)

IVIG Prophylactic antibodies Recombinant G-CSF Stem cell transplant

Hyper IgM heritability

CVID mechanism

Phenotypically normal B cells can’t SURVIVE = less plasma and memory cells TACI MHC HLA: DQ2, DR17, DR7, B8

CVID signs & symptoms (4) and age

20-40 years - Recurrent pyogenic: SINOPULMONARY, meningitis - Lymphoma risk - Autoimmune disorder risk - Less vaccine response

CVID lab findings

HYPOgammaglobulinemia

CVID infections (4)

GIARDIA LAMBLIA Mycoplasma Congenital: rubella, CMV, T.gondii Recurrent HZV

CVID treatment

Prophylactic antibodies IVIG

Humoral deficiency most common manifestations (3)

Sinusitis Bronchitis Pneumonia Encapsulated pyogenic bacteria

SCID mechanisms (4)

NK+ = RAG 1/2 = defective VDJ B+ = IL-2R gamma chain (most common) All - = Adenosine deaminase ADA = toxic metabolites of deoxyadenosine and dATP B+NK+ = IL-7Ra defect

What do all SCID mutations have in common in their genotype

T-

SCID signs and symptoms (4) and age

NORMAL AT BIRTH, 4-6 month onset Severe, recurrent - Bacterial diarrhea, chronic - Chronic thrush - Absent lymph nodes - Inadequate growth

SCID lab findings (4)

- Less TRECs (excision circles) - Lymphopenia <300-500 - Absent germinal centers - No thymic shadow

SCID infections

ALL Bacterial Viral Protozoal

SCID treatment

IVIG PCP prophylaxis HSCT

SCID red flags

Avoid live vaccines Fatal if not tx within year 1

T-B-NK+ mechanism

RAG 1/2 defect

T-B+NK- mechanism

IL-2R gamma chain

T-B-NK- mechanism

Adenosine deaminase ADA deficiency

T-B+NK+ mechanism

IL-7Ra defect

Omenn symdrome

SCID Onset before 3mo. - Erythroderma - Adenopathy - Hepatosplenomegaly - Inadequate growth

X-linked immunodeficiencies

- Chronic granulomatous disease - XLA - Hyper IgM - IL-2R gamma SCID

TACI deficiency effect

No mature B cells

Genotype for LESS CD27+ memory B cells

CD40 and CD40L

Genotype for normal CD27+ memory B cells but decrease of IgG

AID, UNG