Inborn Errors of Immunity Flashcards
Innate immunity
first-line of defense; non-specific
includes physical barriers: skin, saliva
macrophages, basophils, mast cells, and nuetrophils
second line of defense
involves building up memory of encountered infections to mount enhanced response to specific pathogen
includes: antibodies and T cells directed to pathogens
X-linked Agammaglobulinemia (Burton’s) gene
BTK
Clinical features of X-linked Agammaglobulinemia (Burton’s)
Reccurrent bacterial infections with S pneumo and H influenza
inflammatory bowel disease
work up for X-linked Agammaglobulinemia (Burton’s)
absent B cells, all immunoglobins reduced
What to consider if patient is suspected with X-linked Agammaglobulinemia (Burton’s) and has hearing loss
- contigious gene deletion syndromes
- contiguous X-chromosome deletion syndrome encompassing BTK , and TIMM8A genes
X-linked Severe combined immune deficiency gene
IL2RG
Clinical features of X-linked Severe combined immune deficiency (SCID)
first year of life with recurrent upper/ lower respiratory infections with bronchiectasis, omenn syndrome, autoimmunity and EBV- related lymphoproliferative complications
SCID newborn screening
blood spot measures T-cell receptor excision circles to detect T-cell lymphopenia (threshold determined by state)
Other conditions detected by TREC screening
Digeorge/ 22q11.2 deletion
trisomy 21
ataxia telangiectasia
CHARGE
Wiskott-Alrich syndrome MOH an gene
X-linked; WAS
Biochemical findings in Wiskott-Alrich Syndrome
progressive decrease in T cell numbers
normal B cells
Low IgM, often high IgA and IgE
Clinical features of Wiskott-Alrich syndrome
cancer, thrombocytopenia, autoimmunity, eczema, immunodeficiency
STAT3- related Hyper IgE syndrome
AD; STAT-3
Clinical features for STAT3- related Hyper IgE syndrome
skin: boils, rashes, eczema
immune: very high IgE
pulmonary: pneumatoceles, bronchiectasis
