Kostmann Disease

An autosomal recessive disease thought to be caused by G-CSF (Granulocyte Colony Stimulating Factor) signal transduction abnormality

• Causes Neutropenia 

Galactosemia

1. GALT: Presents most severely in infants with failure to thrive, hepatosplenomegaly, etc.

2. Galactose Kinase: Presents with cataracts (aldose reductase in eye converts galactose to galactitol = osmotic effect.

COMBINED: Galactosemia = E. coli infection 

Leukocyte Adhesion Deficiency

Failure of the leukocyte to express LFA-1 integrin that is necessary to establish tight adhesions to endothelium.  

Chronic Granulomatous Disease

NADPH-Oxidase deficiency results in failure to produce reactive oxygen species that kill bacteria.

Much more prone to OXIDASE + bacteria/fungal infections: Aspergillus f., Burkholderia c., Serratia m., Staph a., Nocardia

DX with Tetrazolium Blue Dye Reduction Test 

Chediak-Higashi Syndrome

Inapprorpiate function of secretory granules of immune and hema systems. Also presents with partial ALBINISM. Early death. 

DiGeorge Anomaly

Failure of the 3rd/4th pharyngeal pouches to form the thymus and parathyroid glands

Presents with recurrent infections, hypocalcemia, tetany, and congenital heart defects 

Wiskott-Aldrich Syndrome

Failure of IgM production against polysaccharide coats. Increased IgA result.

Wiskott-Aldrich

Pyogenic Infections                   

Purpura          

       Eczema                 

WIPE

Hyper IgM Syndrome

X-Linked Deficiency of T-Cell CD40L gene. CD40L is necessary for isotype switching. Lack of CD40L = high IgM and low IgA, E, D.

Pneumonia is the most common: P. c.

GI = C. parvum and Giardia