Inherited Diseases to know - quick and dirty Flashcards
Genetic Defect; Inheritance; Presentation, Findings all for:
X-link Bruton Agammaglobinmemia
BTK Tyrosine Kinase gene defect - no B cell maturation
XLR - boys only
Recurrent bacterial and enteroviral infections after 6 months of age
*Extracellular and Encapsulated bacteria infections
Findings: No germinal centers or lymphoid follicles; no Igs
Genetic Defect; Inheritance; Presentation, Findings all for:
Selective IgA Deficiency
Most commin primary immunodeficiency –> unknown defect but can’t switch to IgA
Asymptomatic (most), Airway and GI infections (Giardia), Autoimmune Disease, Atopy, Alanphylaxis to IgA products
Anaphylaxis w/ IgA infucsions
Genetic Defect; Inheritance; Presentation, Findings all for:
Common Variable immuno deficiency
Defect in B cell maturation (
aquired in 20s-30s
- Increased risk Bronchiectasis, Lymphoma, Sinopulmonary infections
- Increased risk Lymphoma
Low plasma cells and Igs
Genetic Defect; Inheritance; Presentation, Findings all for:
Digeorge
22q11 deletion from failure of the 3rd and 4th pharyngeal pouches = no thymus or parathryroids
CATCH 22 Cardiac abnormalities Abnormal Facies Thymic gone - absent thymic shadow, NO T CELLS Cleft pallate Hypocalcemia
Genetic Defect; Inheritance; Presentation, Findings all for:
IL-12 receptor DEfcieicny
Autosomal recessive
No Th1 response!!!!
MYCOBACTERIAL and FUNGAL infections
no IFN-gamma!!!
can present after administaration of BCG vaccine
Genetic Defect; Inheritance; Presentation, Findings all for:
Hyper IgE syndrome (aka Jobs)
Deficiency of Th17 cells from STAT3 mutation
Autosomal Dominant
Impaired recruitment of PMNs to sites of infection
FATED
Faces (coarse), cold and non-inflamed staphylococcal ABSCESSES, retained primary TEETH, increased IgE, DERM problems (exzema)
No IFN g and high IgE
Genetic Defect; Inheritance; Presentation, Findings all for:
Chronic Mucocandidiasis
T cell dysfunction
Noninvasive candida infections
Absent in vitro T cell proliferation in response to candidat
Genetic Defect; Inheritance; Presentation, Findings all for:
SCID
IL2Rgamma chain mutation (X-linked) or Adenosine Deaminase Deficiency (ADA - Autosomal REcessive)
Failure to thrive, recurrent diarrhea and thrush, lots of viral, bacterial fungal and protozoan infectoins
Low T-cell receptos Excision circles (TRECs)
No Thymic shadoe
No Germinal Centers and no T cells
TX: BM transplant
NO XRAY ADA
Genetic Defect; Inheritance; Presentation, Findings all for:
Ataxia Telangiectasia
Defects in ATM gene which is PIP3 kinase and failure to repair double stranded DAN breaks –> Cell cycle arrest
Autosomal Recessive
Triad: Cerebellar Defects, Spider Angiomas, IgA deficiency
DO NOT XRAY
High AFP, Low IgA, G, and E,
Cerebellar atrophy + Lympho[enia
Genetic Defect; Inheritance; Presentation, Findings all for:
Hyper IgM Syndrome
MUTATION IN CD40L on Th cells and CLASS SWITCHING DEFECT
X-Link Recessive
Severe Pyogenic infections early in life and opportunistic infections w/ Pneumocystis PCP and Cryptosporidium and CMV
Hihgh IgM and low everything else
*LYMPHOID HYPERPLASIA!!!!!!
Tx IvIG
Genetic Defect; Inheritance; Presentation, Findings all for:
Wiscott Aldrich
Mutated WAS gene so T cells can’t reorganize Actin Cytoskeleton
X-Linked Recessive
Increase polysaccaride coated bacteria bc T cell Independent activation
WATER - Wiskott Aldrish: Thrombocytopenia purpura, Exzema, Recurrent Infections
Increased risk of Automimmunity and Malignancy
Increased IgE and IgA (lower IgG and IgM)
Fewer and smaller platelets
WORSE W/ AGE (recurrent infections)
Genetic Defect; Inheritance; Presentation, Findings all for:
Leukocyte Adhesion Defciiecny
Defect in LFA-1Integrin (CD18) protein on phagocytes and impaired chemotaxis and migrations
Autosomal Recessive
Beta 2 Integrins defect
Recurrent infections w/ no pus formation
Delayed wound healing
***SEPARATION OF UMBILLICUS LATE!!!
Increased Pmns but none in infection site
Genetic Defect; Inheritance; Presentation, Findings all for:
Chediak Higashi
defect in LYST - lysosomal trafficking regulator gene
Microtubule dysfunction in Phago-lysosome fusion
Autosomal Recessive
Recurrent pyogenic infections w/ Staph and Strep
Partial Albinism
*Peripheral neuropathy + Horizontal nystagmus
Progressive neurodegeneration
Infiltrative Lymphohistiocytosis - Giant cytoplasmic granules
Pancytopenia
Coagulation defects
Genetic Defect; Inheritance; Presentation, Findings all for:
CGD
defect of NADPH Oxidase and less ROS
No Respiratory burst in PMNs
XLRecessive
increased susceptibility to catalase + organisms (Need PLACESSS) - Nocardia, Pseudomonas, Listeria, Aspergillus, Candida, E coli, Staph, Serratia
abnormal Dihydrorhodamine and NBT test
