Immunodeficiency Flashcards
Low levels of all immunoglobulins due to tyrosine kinase mutation
Bruton’s disease
B cell
B cell disorders
X Linked Hypogammaglobulinemia or Bruton’s Disease
Selective IgA deficiency
Common Variable deficiency
6 month old male with recurrent pyogenic bacterial (S pneumoniae and H influenzae) and enteroviral infections
Bruton’s disease
Pooled gamma globulin
Failure of isotype switching
Selective IgA deficiency
B cell
Recurrent bacterial sinus and lung infections
Selective IgA deficiency
Defect in B cell maturation
Common Variable Immunodeficiency
B cell
Most common form of severe antibody deficiency
CVID
Pooled gamma globulin
T cell disorders
DiGeorge
Chronic mucocutaneous candidiasis
Failure of development of thymus and parathyroids due to defect in 3rd and 4th pharyngeal pouches
DiGeorge
T cell
Transplant of fetal thymus
CATCH 22
Cardiac TOF Abnormal facies Thymic aplasia Cleft palate Hypocalcemia 22q11.2 chromosomal deletion
Recurrent candidiasis in children
Chronic mucocutaneous Candidiasis
Azole
Combined B and T cell
SCID
Wiskott-Aldrich
Ataxia- Telangiectasia
SCID
X linked
Autosomal
Gamma chain/IL-2 receptor gamma
Adenosine deaminase deficiency
Recurrent viral, bacterial, fungal and protozoal infection at 3 months of age
SCID
Plastic bubble
BM transplant
Inability to mount IgM response
Wiskott Aldrich
B and T cell
Wiskott Aldrich
Symptomatology
TIE Me a WASP
Thrombocytopenia
Infections
Eczema