Affected pop Serum Values Mechanism

Presentation Hazards Prognosis Treatment Other

XLA (Bruton’s disease) Males since X linked No B cells No plasma cells  Very low Ig levels B cells cannot mature due to defective b cell tyrosine kinase gene Manifests after 6-9 months of birth (when maternal antibodies expire) Small lymph and/or tonsilar tissue H. influenza, S. pneumonia, echo virus infections Do not immunize with live virus Antibiotics, pooled IgG

Transient Hypogammaglobulinemia Low IgG levels Delayed ability for B cells to make IgG due to lack of help of CD4+ helper cells

Common Variable Hypogammaglobulinemia Acquired around age 15-35 years old B cells normal Low values of one or more of IgG,A,M Unknown because of lack of stimulation by CD4+ cells

Infection None Good None, antibiotics if necessary

Autoimmune disease Gastric cancer (50X) and Lymphona (300X) Frequent bacterial, viral, parasitic infections None Antibitiotics, pooled IgG Relatives usually have IgA deficiency

Affected pop Serum Values Mechanism


Selective Immunoglobulin Deficiencies IgA Deficiency Immunodeficiency with High IgM Most common 1/700, 1/200 if allergies Inability for B cells to switch from IgM to other isotypes (G,A,E; D ok) Low serum and secretory values of IgA High IgM, other isotypes are low/absent Failure of final terminal differentiation Inability for B cells to switch from IgM to of B cells to IgA other isotypes (G,A,E; Dok) Defect in CD40 T/B cell signal CD40L on T cell (70%) or CD40 on B cell (30%) Sinopulmonary infections, pneumonia, Pyogenic and opportunistic diarrhea Infections Liver abnormalities, liver cancer BEWARE OF BLOOD TRANFUSIONS Good Antibiotics

Congenital Thymic Aplasia (DiGeorge’s Syn) Newborns and infants No T cells, hypocalcemia 22q11 deletion  pharyngeal pouch 3,4 interference

Hazards Prognosis Treatment Other

Antibiotics, pooled IgG IgM plasmocyte infiltrates, autoantibodies  hemolytic anemia, episodic neutropenia and/or thrombocytopenia

No thymus, no parathyroid Facial anomalies, heart malformation, learning disabilities Bacteria and viral infections Do not give live viral vaccines Mild forms (where some thymus present) = good Thymus transplant, Ca supplement, antibiotics, cardiac surgery

mouth. mensesm violent exercise.Severe Combined Immunodeficiency (SCID) Affected pop Serum Values Mechanism No T or B cells Defective lymphoid stem cells 1. vomiting. diarrhea) No increase in infections Induced by trauma. epiglottis. GI tract (cause cramps. larynx (can be fatal). anabolic steroids . prophylaxis. Defective gene for gamma chain of IL-2 receptor (more common)  inappropriate growth/maturation of stem cells 2. face. factor XII and kallikrein are activated Presentation High incidency of lymphoma/leukemia High susceptibility to radiation Severe cerebellar ataxia Telangectasias Relatively slowly progressive disease Supportive care Pooled IgG (if deficient) Hazards Prognosis Treatment Other Swelling/edema in skin. and anxiety No specific treatment (laryngeal edema – tracheostomy). attenuated androgens. Adenosine deaminase enzyme deficiency: purine metabolism disrupted so ATP & dATP accumulate to fatal levels in lymphoid stem cells Skin rash Various infections Do not give live vaccines Bone marrow transplant ADA enzyme injections Ataxia Telangectasia Lower IgA values than other isotypes Defective ATM (ataxia telangiectasia mutated) gene that is needed for DNA repair resulting in T cell antigen receptor Complement Deficiency Heredity Angioedema Deficiency in C1 inhibitor resulting in increased vascular permeability because C1qrs. extremes of temperature.