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Immunodeficiency Flashcards

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1
Q

Bruton’s X-Linked Agammaglobulinemia Pathogenesis

A

X-linked, no immunoglobulins created. B cell disease

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2
Q

Bruton’s Agammaglobulinemia patient

A

Recurrent severe infections with bacteria. In boys, prolonged and severe infections

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3
Q

How to diagnose Bruton’s Agammaglobulinemia?

A

Look at Ig level. All levels are low.

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4
Q

Treatment for Brutons Agammaglobulinemia

A

Give IG every month, give prophylactic antibiotics

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5
Q

What happens if you see repeated infections that begin in a teen?

A

Mixed combined immunodeficiency

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6
Q

IgA deficiency patient presentation?

A

Mucosal infections, GI tract and respiratory tract infections.

Or

Asymptomatic and anaphylaxis with blood products

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7
Q

HyperIgM pathogenesis

A

No class switching

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8
Q

HyperIgM patient presentation?

A

Recurrent bacterial infections

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9
Q

How to diagnose hyperigm?

A

IgA and IgG decreased. IgM way up

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10
Q

Chronic granulomatous disease pathogenesis

A

Defect in nadph oxidase

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11
Q

CGD patient presentation?

A

Recurrent infections with catalase positive organisms, staph infections (caught inside macrophages), impetigo.

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12
Q

How do diagnose CGD

A

Nitroblue test or DHR. Increased IgM IgG, white blood cells.

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13
Q

DiGeorge Syndrome pathogenesis

A

Dysfunctional development of the third pharyngeal pouch

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14
Q

How does patient with Digeorge Syndrome Present?

A

Wide eyes, low set ears, small face, absent thymic shadow. Fungal and PCP infections.

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15
Q

How to diagnose digeorge syndrome

A

CBC which shows decreased absolute lymphocyte count, mitogen stimulation assay.

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16
Q

Other consequences of digeorge syndrome

A

Decreased CA due to absent PTH which leads to tetany and seizures.

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17
Q

Wiskott Aldrich pathogenesis

A

X-linked, seen in boys

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18
Q

Wiskott Aldrich patient presentation?

A

Biys with normal infections but recurrant. Decreased ph, eczema, thrombocytopenia.

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19
Q

Diagnosis of Wiskott Aldrich

A

Increased IgG and IgM, treat with Bm transplant

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20
Q

Ataxia telangiectasia

A

Defect in DNA repair. Causes ataxia and telangiectasia and immunodeficiency. Also predisposed to leukemia and lymphoma.

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21
Q

SCID pathogenesis

A

ADA deficiency, literally no immune system

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22
Q

How does patient with SCID present?

A

With mega aids, MAC PCP

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23
Q

Tx for scid

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A

Isolate patient, Bactrim, azithromycin.

24
Q

How to diagnose SCID?

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A

No immunoglobulin, No b cells, no t cells.

25
Patau Syndrome
Trisomy 13, small baby, polydactly, cleft lip
26
Edwards Syndrome
Trisomy 18, clenched fists, small palpebral fissures, rocker bottom feet, VSD
27
Down Syndrome
Trisomy 21, prominant epicanthal folds, brushfield spots,
28
Von hippel lindau syndrome
Chromosome 3. Hemangiomas in the brain, spinal cord, etc. BILATERAL renal cell carcinomas
29
Achondroplasia
On 4 FGFR, associated with adnacned paternal age.
30
NF1
Chromosome 17. Cafe au lait spots, cutaneous neurofibroma, lisch nodules. Increased tumor risks
31
Marfan's Syndrome
On chromosome 15, fibrillin. Tall, pectus, aortic dissection
32
Von Willibrand disease
Increased bleeding time and increased PTT. Treat with DDAVP
33
Tuberous Sclerosis
Ash-leaf spots, seizures, sebaceous adenomas.
34
Kleinfelter's Syndrome
XXY, hypogonadism, testicular atrophy, eunuchoid body type
35
Turner Syndrome
XO, streak ovary, neck webbing, amenorrhea, lymphoid abnormalities,
36
Male pseudohermaphrodite
Are XY, but have blind ending vagina because of failure of testosterone receptor (testicular feminization)
37
5alphareductase deficiency
Female until puberty because of no DHT from T, then huge T surge causes male development
38
PKU
Defect in phenylalanine hydroxylase that causes high levels of phe from tyrosine. Demyelinating disease, with mousy odor. Tyrosine becomes essential.
39
Albanism
Absense of tyrosinase causes inability to create melanin from tyrosine. Increased risk of skin cancer.
40
Galactosemia
Defect in an enzyme (gal 1 p uridyltransferase) that causes buildup of galactose in blood. Leads to cataracts, cirrhosis. Failure to thrive.
41
Maple syrup urine disease
Failure to break down branched chain amino acids (no alphaketoacid dehydrogenase). Isoleucine, leucine, valine. Sweet smelling urine, MR and death.
42
Homocysteinuria
Cystathionine synthase, methionine synthase. Or decreased affinity for B6. Causes stroke, coronary artery disease, lens dislocation
43
Alkaptonuria
Benign, causes black urine. Homogentisic acid oxidase.
44
Lesch Nyhan Syndrome
HGPRT Gout, Pissed off (self-mutlation) Retardation
45
Fabry's Disease
alpha galactosidase deficiency with a buildup of ceramide trihexoside. Causes RENAL FAILURE and PERIPHERAL neuropathy.
46
Gaucher's Disease
Most common, hepatosplenomegaly, lipid-laden macrophages. Femur necrosis
47
Niemann Pick disease
Neurodegeneration, cherry red spot on macula, hepatosplenomegaly.
48
Tay Sachs
Progressive neurodegeration, cherry red spot on macula, lysosomes with onion skin, no hepatosplenomegaly.
49
Metachromatic leukodystrophy
Demyelinating disorder with ataxia and dementia
50
Hurler Syndrome
Coarse facial features, cataracts, HSM
51
Hunter Syndrome
Mild hurler, no corneal clouding.
52
Von Gierke Syndrome
Type 1 GSD. Severe hypoglycemia, increased lactate. Increased glycogen in liver. Defect in glucose 6 phosphatase.
53
Pompe's Disease
Cardiomyopathy. Type II GSD, defect in acid maltase
54
Cori Disease
Milder form of von gierke
55
McArdle Disease
Can't break down glycogen in muscle so causes myoglobinuria and painful cramps.
56
Contributing factors to neonatal respiratory distress syndrome?
Prematurity and maternal diabetes

Pediatrics Clerkship (7 decks)

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