T-Cell Deficiencies
This primary immunodeficiency results in the absence of a thymus leading to profound T-cell deficiency and severe recurrent infections.
What is DiGeorge Syndrome (complete)?
The presence of normal B-cell counts but inability to switch immunoglobulin classes is characteristic of this disorder.
What is Common Variable Immunodeficiency (CVID)?
This condition is caused by a defect in NADPH oxidase, leading to recurrent infections with catalase-positive organisms.
What is Chronic Granulomatous Disease (CGD)?
C5-C9 deficiency (Membrane Attack Complex deficiency) results in increased susceptibility to these bacteria.
What are Neisseria meningitidis and N. gonorrhoeae?
A newborn with persistent oral thrush, chronic diarrhea, and opportunistic infections within the first few months of life likely has this condition.
What is Severe Combined Immunodeficiency (SCID)?
TREC (T-cell receptor excision circles) is often used to universally screen for SCID as part of this test.
What is the newborn metabolic screen?
This disorder is associated with an increased risk of lymphoma, thrombocytopenia, eczema, and recurrent infections.
What is Wiskott-Aldrich Syndrome?
This immunodeficiency presents with recurrent bacterial infections but usually resolves by age 3-6 years.
What is Transient Hypogammaglobulinemia of Infancy?
Patients with this disorder present with severe infections, neutrophilia, and the absence of pus.
What is Leukocyte Adhesion Deficiency (LAD)?
A deficiency in this complement regulatory protein leads to hereditary angioedema.
What is C1 esterase inhibitor?
Hyper-IgE Syndrome (Job Syndrome) presents with recurrent skin abscesses with "cold" inflammation due to this organism.
What is Staphylococcus aureus?
An oxidative burst assay is used for diagnosis of this primary immunodeficiency.
What is the Chronic Granulomatous Disease?
Patients with this disorder have a combined B and T cell deficiency but have normal or increased numbers of B-cells.
What is Hyper-IgM Syndrome?
This disorder results in absent lymphoid tissue and absent B-cells due to a defect in the BTK gene.
What is X-linked (Bruton's) Agammaglobulinemia?
This rare disorder presents with recurrent pyogenic infections and giant granules in neutrophils.
What is Chediak-Higashi Syndrome?
The complement proteins that are often low in SLE.
What are C3 and C4?
A male infant with recurrent sinopulmonary infections, absent lymph nodes, and absent tonsils is likely to have this disorder.
What is Bruton's (X-linked) Agammaglobulinemia?
Quantitative immunoglobulin testing is often used as a fundamental step in evaluating this type of primary immunodeficiency.
What are B-cell deficiencies?
The primary genetic defect in SCID, in its most common form, results in an absence of this enzyme.
What is Adenosine Deaminase (ADA)?
Patients with this immunodeficiency are at increased risk for Giardia infections due to impaired mucosal immunity.
What is IgA Deficiency?
An autosomal recessive disorder that is the 2nd most common cause of exocrine pancreatic insufficiency after cystic fibrosis.
What is Shwachman-Diamond Syndrome?
CH50 is a screening test for disorders of this complement pathway.
What is the classical pathway?
What is X-linked? (Occurs mostly in males)
Lymphocyte proliferation assays are useful in the evaluation of this type of primary immunodeficiency.
What are T-cell deficiencies?
This disorder leads to progressive loss of coordination and visible broken blood vessels, and affected individuals often have an elevated AFP level.
What is Ataxia-Telangiectasia?
This B-cell disorder results in the failure of isotype switching due to a defective CD40 ligand.
What is Hyper-IgM Syndrome?
This condition causes recurrent aphthous ulcers and infections in a periodic manner.
What is Cyclic Neutropenia?
Deficiencies in early complement components (C1-C4) predispose to this type of infection due to their role in opsonization.
What are pyogenic bacterial infections?
An autosomal dominant condition resulting in episodic swelling without hives.
What is Hereditary Angioedema?
A genetic test used to diagnose DiGeorge Syndrome.
What is FISH or chromosomal microarray?