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level: Primary Immunodeficiency and Autoimmune Disorders

Questions and Answers List

level questions: Primary Immunodeficiency and Autoimmune Disorders

Question	Answer
Developmental failure of third and fourth pharyngeal pouches leading to absent thymus and parathyroid	DiGeorge Syndrome
Causes DiGeorge syndrome	22q11 microdeletion
Defective cell mediated and humoral immunity	Severe Combined Immunodeficiency (SCID)
A possible etiology of SCID wherein there is decreased ADA activity leading to buildup of adenosine and deoxyadenosine which are toxic to lymphocytes	Adenosine Deaminase (ADA) Deficiency
Disordered B-cell maturation -> complete lack of immunoglobulins; recurrent bacterial infection, entreovirus, Giardia infection	X-linked Agammaglobulinemia
X-linked Agammaglobulinemia	Mutated Bruton Tyrosine Kinase (BTK)
Typical age of manifestation of symptoms in x-linked Agammaglobulinemia due to loss of maternal antibodies	6 months
Low immunoglobulin due to B-cell or helper T-cell defect; Rik for bacterial, enterovirus and Giardia infection in late childhood	Common Variable Immunodeficiency
Most common immunoglobulin deficiency; increased risk for mucosal infections	IgA deficiency
GI pathology associated with IgA deficiency	Celiac disease
Elevated IgM levels with low IgA, IgG and IgE; Risk for recurrent pyogenic infections especially at mucosal sites	Hyper-IgM syndrome
Second signal is not delivered, cytokines for class switching are not released	Mutated CD40L (helper T-cell) or CD40 Rc (B-cell)
Triad of thrombocytopenia, eczema and recurrent infections	Wiskott-Aldrich Syndrome
X-linked condition; Wiskott-Aldrich Syndrome	Mutated WASP gene
Complement deficiency associated with increased risk for Neisseria gonorrhoeae and Neisseria meningitides infection	C5-C9 deficiency
Hereditary angioedema	C1 inhibitor deficiency
Immune-mediated tissue damage due to loss of self tolerance	Autoimmune disorders
Most common population affected by autoimmune disorders	Women of childbearing age
Systemic tissue damage via type II and type III hypersensitivity with associated systemic symptoms and manifestations	Systemic Lupus Erythematosus
Most common cause of death in SLE	Renal failure and infection
Most common pattern of renal damage in SLE	Diffuse proliferative glomerulonephritis
Most common population affected by SLE	African American women
Associated with sterile vegetations on both sides of the mitral valve	Libman-Sacks endocarditis
Laboratory findings for SLE	ANA (+); Anti-dsDNA (+)
Characteristic of drug-induced SLE	Antihistone antibody
Common causes of drug-induced SLE	Hydralazine, Procainamide, Isoniazid
Autoantibodies against proteins on phospholipids; Associated with 30% of SLE cases	Antiphospholipid Antibody Syndrome
Most common antibodies in SLE-associated APAS	Anticardiolipin and Lupus anticoagulant
Antibody which leads to false positive syphilis test	Anticardiolipin
Antibody which leads to falsely elevated PTT and a hypercoaguable state	Lupus anticoagulant
Autoimmune destruction of lacrimal and salivary glands due to type IV hypersensitivity with fibrosis	Sjorgen Syndrome
Keratoconjunctivitis and xerostomia in the elderly; classic presentation of Sjorgen syndrome	"Can't chew a cracker, dust in my eyes"
Sjorgen Syndrome	ANA (+); Anti-SSA (+) or Anti-SSB (+)
Possible late complication associated with Sjorgen sydrome presenting as unilateral enlargement of the parotid gland	B-cell marginal zone lymphoma
Autoimmune tissue damage with fibroblast activation and collagen deposition	Scleroderma
DNA topoisomerase I	Scl-70
Scleroderma	ANA (+), Anti-Scl70 (+)
Most commonly affected organ in diffuse type scleroderma	Esophagus
Prototype presentation of localized scleroderma (Calcinosis/anti-centromere, Reynaud's phenomenon, Esophagus, Sclerodactyly, Telangiectasia)	CREST syndrome
Mixed features of SLE , systemic sclerosis and polymyositis of proximal muscles	Mixed connective tissue disease
Mixed connective tissue disease	Anti-U1 ribonucleoprotein