Pathoma High Yield Diseases

Front 1

Leukocyte adhesion deficiency

Defect of what? What does it cause?

Back 1

Defect in integrins, specifically CD18 subunit Auto recessive

Delayed separation of umbilical cord, recurrent bacterial infections that lack pus formation. Increased circulating neutrophils

Front 2

Chediak Higashi syndrome

What is the defect, and what does it cause?

Back 2

Defect in microtubule transportation of protein trafficking. Impaired phagolysosome formation. Auto. recessive

^ risk of pyogenic infections
Neutropenia
Giant granules in Leukocytes (unable to move stuff from Golgi to different parts of cells)
Albinism (melanin unable to be transported to different cells in skin from melanocytes)
Peripheral neuropathy

Front 3

Chronic Granulomatous Disease

Defect? Effects? What bacteria seen?

Back 3

NADPH oxidase defect (X-Linked or auto. rec). Causes bad O2 dependent killing in lysosomes.

Recurrent infections from bacteria that are catalase +.

S. aureus, pseudomonas cepacia, serratia marcescens, Nocardia, Aspergillus

NBT (NitroBlue Tetrazolium) test is abnormal, as NADPH is defective, and so O2 cannot be converted to O2-.

Front 4

MPO deficiency

Defect and effects?

Back 4

Deficiency in MPO, causing reduced or absent H2O2 conversion to HOCL-.

Most patients have no symptoms, but if they present, usu. with Candida infection.

NBT (Nitroblue Tetrazolium) test is normal, as NADPH oxidase is unaffected.

Front 5

Non-caseating granuloma common causes?

Back 5

Foreign object, sacroidosis, Crohn Dz, beryllium exposure, cat scratch dz

Front 6

Caseating granuloma common causes?

Back 6

TB, fungal infections

For TB, do AFB stain, for fungal do GMS stain. Will helo you tell them apart.

Front 7

DiGeorge Syndrome

Cause? Findings?

Back 7

Fail to develop 3 and 4 pharyngeal pouches, 22q11 deletion.

Lack of thymus, so T cell deficiency (recurrent viral and fungal infections)
Lack of calcium due to no parathyroids
facial, aortic, and heart abnormalities

Front 8

CREST syndrome?

Back 8

Calcinosis/Anti-Centromere antibodies
Raynaud phenomenon
Esophageal dysmotility
Sclerodactyly
Telangiectasias

Front 9

X-Linked Agammaglobulinemia

Cause? Presentation?

Back 9

disordered B cell maturation due to mutated Bruton Tyrosine Kinase
Presents after 6 months (because fetal Ab still present until then) with recurrent bacterial, enterovirus, and Giardia infections.

AVOID LIVE VACCINES

Front 10

CVID

Increased risk for what?

Back 10

Low Ab due to B and T cell defects

Increased risk for recurrent bacterial, enterovirus, and giardia lamblia infections, and AI dz and Lymphoma

Front 11

WHat ia IgA associated with?

Back 11

recurrent mucosa infections

Celiac Dz.

Front 12

Hyper IgM Syndrome

What mutation(s)? Effects?

Back 12

Mutated CD40L on T-Helper cells, and/or CD40 receptor on B cells

Causes low Ab for all except IgM. Especially more mucosal infections. Ab are not able to go through class switching.

Front 13

Wiskott-Aldrich syndrome

Triad of sx? mutation?

Back 13

Thrombocytopenia, eczema, recurrent infections.

Mutation in WASP gene, X-Linked

Front 14

C5-C9 deficiency causes an increased risk of what?

What about C1 inhibitor deficiency?

Back 14

Neisseria infections

Edema of the skin, especially periorbital

Front 15

Most common cause of death in SLE?

Back 15

Renal disease and infection.

Front 16

What is the main marker of drug induced SLE?

Back 16

Antihistone antibodies

Front 17

Sjogren syndrome

Presentation and cause?

Back 17

Type IV hypersensitivity - destruction of salivary and lacrimal glands by autoimmune. ANA and anti-ribonucleoprotein antibodies.

Dry eyes and mouth ("Can't chew a cracker and dirt in my eyes.") Bilateral enlargement of Parotid gland

Assoc with rheumatoid arthritis and other AI dz.