Immunodeficiency

Severe combined immunodeficiency

Pt has diminished or no Adaptive immunity

SCID is

Absence of thymic developmen

Risk factors are

X-linked male, lacking gamma chain of IL-2 receptor

SCID lacking gamma chain in IL2receptor causes

Defect in T cell generation

Treatment for SCID?

Bone marrow transplant/ gene therapy

Can pt with SCID take live attenuated vaccines?

No, as they lacking adaptive immunity

Specifically what type of vaccines do SCID pt cannot take

Poliovirus or Bacille Calmette-Guerin vaccine

What is DiGeorge syndrome?

Pt has small or missing thrums since womb

DiGeorge syndrome is caused by

Chromosome 22q11.2 microdeletion

Pt has small jaw, mouth, upper lip; slanted eyes; low set ears; short stature, cardiac malfunctions; little to no thymus

DiGeorge syndrome

What is X-linked agammaglobulinemia?

B cell generation cannot be completed in BM

X-linked male agammaglobulinemia is

No mature B cells, small lymph nodes, absent tonsil

Pt has small lymph nodes and absent tonsils, is suspected to have

X-linked male agammaglobulinemia

When does one starts to get detected to have x-linked gamammaglobulinemia?

after 6 months

what sustained the baby immune system who has x-linked agammaglobulinemia?

Maternal IgG that lasted for 6 months

what gen is defective in x-linked agammaglobulinemia

Recessive allele on X-chromosome, which is coding for Bruton’s tyrosine kinase (Btk)

What is important in B cell development in bone marrow

BTK