III - Immunodeficiency Disorders Flashcards
Recurrent infection with pyogenic bacteria
B-cell deficiency
Recurrent infection with virus, fungi, protozoa
T-cell deficiency
Deficiency in all immunoglobulins due to a tyrosine kinase deficiency presenting at 6 mo as recurrent pyogenic infections, enteroviral infections
X-linked Agammaglobulinemia / Bruton’s agammaglobulinemia
Treatment for Bruton’s agammaglobulinemia
pooled gamma globulin
Deficiency in IgA, presenting as recurrent sinus, lung infection
Selective agammaglobulinemia
Treatment for selective agammaglobulinemia
Treatment of infection, DO NOT give globulin
Defect in B-cell maturation to plasma cell, presenting as recurrent pyogenic infections
Common Variable Immunodeficiency (CVID)
Treatment for CVID
pooled gamma globulin
Chromosomal defect in Di George Syndrome
chromosme 22q11.2 deletion
Clinical manifestations of DiGeorge Syndrome
CATCH22 - Cardiac anomalies, Abnormal facies, Thymus hypoplasia, Cleft lip, Hypocalcemia (parathyroid hypoplasia), ch22 deletion, recurrent viral infection
Treatment for DiGeorge syndrome
Thymus transplant
Specific T-cell deficiency for Candida albicans
Chronic mucocutaneous candidiasis
TOC for CMCandidiasis
Azole drugs
Defect in SCID
defect in IL-2 Tcell receptor, adenosine deaminase deficiency
TOC for SCID
Plastic bubble, marrow transplant
Defect in Wiskott-Aldrich syndrome
WASP gene mutation, inability to mount IgM response
Clinical findings in Wiskott-Aldrich syndrome
TIE a WASP: Thrombocytopenia (bleeding), Infections, Eczema
Deficiency in Ataxia-Telangiectasia
IgA
Defect in chronic granulomatous disease
lack of NADPH oxidase –> failure of oxidative burst
Diagnostic stain for chronic granulomatous disease
Nitroblue Tetrazolium Test
Disease featuring impaired phagolysosomal function causing recurrent pyogenic infection by staph and strep
Chediak-Higashi Syndrome
Deficiency in Leukocyte Adhesion Deficiency
LFA-1 and integrins
Clinical presentation of LAD
Delayed separation of umbilical cord and severe pyogenic infections in infancy
Most common complement deficiency
C2 deficiency
Common infection in C5-9 deficiency
Neisseria meningitidis/gonorrhea
