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Humoral deficiencies
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X-Iinked agammaglobulinemia
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Rx
Severe
Infections
(Bacterial / Viral)
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No B cells or Immunoglobulins
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Common variable immunodeficiency
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Normal B cells but ⤵️ Immunoglobulins
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IgA deficiency
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Normal B cells
Only ⤵️ IgA
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Hyper-IgM syndrome
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Normal B cells
⤵️ IgG & IgA
⤴️ IgM
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IgG subclass deficiency
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Normal B cells
⤵️ IgG
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Common variable immunodeficiency
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Clx
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Rx infections
Autoimmune (RA, thyroid)
Chronic lung disease (Bronchiectasis)
Gl disorders (Chronic diarrhea, IBD-like conditions)
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Dx
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⤵️ lgG, lgA/lgM
No response to vaccination
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Tx
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Immunoglobulin replacement therapy
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X-Iinked agammaglobulinemia
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Clx
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Rx sinopulmonary & GI infections after age 6 months
Absence of lymphoid tissue on PEx (Tonsils, lymph nodes)
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Dx
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⤵️ Immunoglobulins & B cells
ⓝ T cell concentration
No response to vaccinations
|
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Tx
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Immunoglobulin replacement therapy
Prophylactic antibiotics if severe
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Selective lgA deficiency
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#
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Most common immunodeficiency
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S/S
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Usually Asx
Recurrent sinopulmonary & GI infections
Anaphylaxis during transfusions
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Dx
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Absent IgA (other immunoglobulins are ⓝ)
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Tx
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Supportive care (Make sure they have a label for transfusions)
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Features of leukocyte adhesion deficiency
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Recurrent skin & mucosal bacterial infections (Omphalitis / periodontitis)
· No pus → neutrophils can’t go to inflammation site
· Poor wound healing
Delayed umbilical cord separation
Marked peripheral leukocytosis with neutrophilia
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DiGeorge syndrome/velocardiofacial syndrome
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Path
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Chromosome 22q11.2 deletion
Defective development of pharyngeal pouches
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Clx
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· Cardiac defects (ToF, truncus arteriosus)
· Abnormal face (cleft palate)
· Thymic aplasia (T-cell deficiency)
· Hypoparathyroidism (⤵️ Ca+(
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Chronic granulomatous disease
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Inheritence
|
X-Iinked recessive
|
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Clx
|
Recurrent infections w/ Catalase-positive 👾 (S.aureus, Serratia, Burkholderia, Aspergillus)
|
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Dx
|
Neutrophil function testing
· Dihydrorhodamine 123 test
· Nitroblue tetrazolium test
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Wiskott-Aldrich
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Cause
|
XR defect in WAS protein gene
|
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Path
|
Impaired cytoskeleton in leukocytes, platelets
|
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Clx
∆
|
Eczema
Micro-thrombocytopenia (⤵️ PLT #)
Recurrent infections
|
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Tx
|
Stem cell transplant
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Severe Combined Immunodeficiency
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|
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Cause
|
· Gene defect leading to failure of T cell development
· B cell dysfunction due to absent T cells
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Inheritance
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X-Iinked recessive / Autosomal recessive
|
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Clx
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Recurrent, severe viral, fungal, or opportunistic infections
Failure to thrive / Chronic diarrhea
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Tx
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Stem cell transplant
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Fast HY Review 