Key Words for B Cell deficiencies
- recurrent sinopulmonary infections with encapsulated bacter after 6 months
- recurrent CNS enteroviral infections
- recurrent hepatitis
- growth and developmenta is normal
- later possibly increase in autoimmune lymphoma
What is defect, genetics and presentation of bruton agammaglobulinemia?
- defect in b-lymphocyte development
- X-linked recessive Tyrosine Kinase gene
- presents in males at age 6 to 9 months with recurrent sinopulmonary and mycoplasma infection
Findings and Tx of Bruson Agammaglobulenima
- PE: no tonsils or lymph nodes
- all IGs low, low to abscent B cells on flow cytometry
- monthly IVIG
What is transient hypogammaglobulinemia of infancy?
-prlonged or increased physiologic hypogammaglobulinemia occuring at age 3 to 6 months and lasts age 3 to 5
Presenation transient hypogamma?
- recurrent sinopulmonary infections starting at 10 months
- increased atopic disease
- chronic diarrhea; infections with giardia and C. diff
- no sepsis or life threatening infections
Lab findings and Tx transient hypogamma?
- low IgG and IgA; normal IgM
- everything else relatively normla
- may develop selective IgA deficiency
- supportive care; IVIG if abx not working
What is the cause, genetics, and presentation of CVID?
- phenotypically normal B cells that doe no differentiate into Ig producin cells
- sporadic or AD
- later onset with Bruton infections
- -echoviral meningoencephalitis
What is later risk of CVID
-lymphoma
Findings and Tx of CVID
- splenomegaly
- can have increased tonsills / lymph nodes
- low IgG, IgA, IgM
- IVIG
- must screen for anti IgA abs (remove from Ig if develop)
What is cause, genetic, and presentation selective IgA deficiency?
-no IgA
-AD with variable expression
-recurrent respiratory, GI, and urogenital infection
00intestinal giardiasis
What is the most common immunodeficiency
selective IgA
Risk later on of IgA deficiency
-malignancy, autoimmune disease
Findings and Tx IgA deficiency
- no IgA and may have elevated IgM
- NO IVIG as they may have anaphylaxis
What can you infer if IgA is normal
probably not a permanent antibody deficiency
What are the most common presenting findings with T cell defects?
- opportunistic infections (mycobacteria, eBV, cMV, candidia, pneumocystis carinii) within the first months of life
- diarrhea
- failure to thrive
What is the most common presentation for DiGeorge
hypocalcemia and seizures in neonate
What must you make sure any blood product undergoes prior to giving to DiGeorge
irradiated
What are the most common cardiac anomalies in DiGeorge?
- issues with the great vessels / conotruncal
- -interrupted aortic arch, ToF, PA with VSD
Cause and Genetics SCID
- no immune function or NK cells
- X-linked or autosomal recessive; can also be ADA deficiency
Presentation SCID
- recurrent or persistent diarrhea with FTT in FIRST COUPLE OF MONTHS
- early GVHD from mom’s cells crossing placenta
- severe lyphomepnia
- decreased Igs
- no lymph nodes, tonsils, adenoids, or peyer patches
- bacterial and opportunistic infections
Tx SCID
stem cell in by 3.5 months
Key Words WAS
- x-linked recessive
- atopic dermatitis
- thrombocytopenic purpura
- recurrent infections
Presentation WAS
- early prolonged bleeding
- sepsis and meningitis 2/2 encapsulated organisms first year of life
- later p. carinni and herpes infection
Most common cause of death in WAS
malignancy 2/2 EBV infection
