Condition Lookup

Common Variable Immunodeficiency (CVID)

Sub-category: Primary Immunodeficiency Disorders (PIDD)

Symptoms:
frequent bacterial infections (sinuses, lungs, ears); chronic diarrhea; autoimmune disorders; fatigue

Root Cause:
Deficient production of immunoglobulins due to impaired B-cell differentiation and antibody production.

How it's Diagnosed: videos
Low immunoglobulin (IgG, IgA, and/or IgM) levels; poor vaccine response; exclusion of other causes of hypogammaglobulinemia

Treatment:
Immunoglobulin replacement therapy (IVIG or SCIG); antibiotic prophylaxis for recurrent infections

Medications:
Immunoglobulin replacement therapy (e.g., IVIG, SCIG), prophylactic antibiotics, and treatment for specific infections.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 25,000 individuals.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of CVID; genetic predispositions

Prognosis: The expected outcome or course of the condition over time.
Variable; many lead a normal life with treatment, though increased risk of infections and complications persists.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic lung disease (bronchiectasis); autoimmune disorders; lymphoma or other cancers

X-Linked Agammaglobulinemia (Bruton’s Disease)

Specialty: Allergies and Immunology

Category: Immunologic Disorders

Sub-category: Primary Immunodeficiency Disorders (PIDD)

Symptoms:
recurrent bacterial infections; otitis media; sinusitis; pneumonia

Root Cause:
Mutation in the BTK gene causing failure of B-cell maturation and antibody production.

How it's Diagnosed: videos
Markedly low immunoglobulin levels; absent or very low B cells in flow cytometry; BTK genetic testing

Treatment:
Lifelong immunoglobulin replacement therapy; antibiotic prophylaxis

Medications:
Immunoglobulin replacement therapy (e.g., IVIG, SCIG) and prophylactic antibiotics.

Prevalence: How common the health condition is within a specific population.
Rare; approximately 1 in 200,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Male infants with a family history of XLA.

Prognosis: The expected outcome or course of the condition over time.
Good with early diagnosis and regular immunoglobulin therapy; untreated leads to severe infections and complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic infections; bronchiectasis; autoimmune conditions

Hyper IgE Syndrome (HIES)

Specialty: Allergies and Immunology

Category: Immunologic Disorders

Sub-category: Primary Immunodeficiency Disorders (PIDD)

Symptoms:
recurrent skin abscesses; eczema; recurrent pneumonias; elevated serum ige levels

Root Cause:
Genetic mutations affecting immune pathways (e.g., STAT3) causing impaired neutrophil function and immune dysregulation.

How it's Diagnosed: videos
Elevated serum IgE (>2000 IU/mL); genetic testing for STAT3 mutations; clinical features like recurrent infections and facial/skeletal abnormalities

Treatment:
Prophylactic antibiotics; antifungals; skin care for eczema; management of infections

Medications:
Prophylactic antibiotics (e.g., Trimethoprim-Sulfamethoxazole), antifungal medications (e.g., Itraconazole ), and supportive treatments for skin infections.

Prevalence: How common the health condition is within a specific population.
Extremely rare; less than 1 in 1,000,000.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of HIES or specific genetic mutations.

Prognosis: The expected outcome or course of the condition over time.
Variable; early intervention improves outcomes. Risk of severe lung and skin infections.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic lung damage (bronchiectasis); fungal infections; osteopenia/fractures

Selective IgA Deficiency

Specialty: Allergies and Immunology

Category: Immunologic Disorders

Sub-category: Primary Immunodeficiency Disorders (PIDD)

Symptoms:
frequent respiratory infections (sinusitis, bronchitis); gastrointestinal infections; allergies; asymptomatic in many cases

Root Cause:
Deficient production of immunoglobulin A (IgA), which is critical for mucosal immunity.

How it's Diagnosed: videos
Low serum IgA levels (<7 mg/dL) with normal IgG and IgM; absence of other immune deficiencies

Treatment:
Management of infections with antibiotics; avoidance of blood products with IgA to prevent anaphylaxis

Medications:
Symptomatic treatment for infections (e.g., antibiotics) and careful monitoring of autoimmune complications.

Prevalence: How common the health condition is within a specific population.
Most common primary immunodeficiency, occurring in approximately 1 in 500 to 1 in 700 people.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of IgA deficiency; associated with autoimmune diseases like celiac disease and lupus

Prognosis: The expected outcome or course of the condition over time.
Good; most individuals are asymptomatic, but some develop complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Increased susceptibility to infections; autoimmune diseases; allergic disorders

Wiskott-Aldrich Syndrome

Specialty: Allergies and Immunology

Category: Immunologic Disorders

Sub-category: Primary Immunodeficiency Disorders (PIDD)

Symptoms:
recurrent infections; eczema; thrombocytopenia (low platelet count); easy bruising or bleeding

Root Cause:
Mutation in the WAS gene affecting cytoskeletal regulation in immune cells, leading to immune dysfunction and low platelets.

How it's Diagnosed: videos
Low platelet count and small platelets on blood smear; genetic testing for WAS mutation; flow cytometry for WAS protein

Treatment:
Hematopoietic stem cell transplantation (HSCT); prophylactic antibiotics and antivirals; immunoglobulin replacement therapy

Medications:
Hematopoietic stem cell transplantation (HSCT), prophylactic antibiotics, and immunoglobulin replacement therapy.

Prevalence: How common the health condition is within a specific population.
Rare; approximately 1 in 100,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Male infants with a family history of Wiskott-Aldrich Syndrome.

Prognosis: The expected outcome or course of the condition over time.
Without HSCT, prognosis is poor due to infections, bleeding, or malignancies. With HSCT, prognosis is significantly improved.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe infections; autoimmune diseases; increased risk of lymphoma or leukemia

DiGeorge Syndrome (22q11.2 Deletion Syndrome)

Specialty: Allergies and Immunology

Category: Immunologic Disorders

Sub-category: Primary Immunodeficiency Disorders (PIDD)

Symptoms:
congenital heart defects; cleft palate; hypocalcemia (low calcium levels); immune deficiency; developmental delays

Root Cause:
Deletion of a portion of chromosome 22 (22q11.2) causing underdevelopment of the thymus, parathyroid glands, and other structures.

How it's Diagnosed: videos
Fluorescence in situ hybridization (FISH) or microarray for 22q11.2 deletion; low T-cell count; clinical features like heart defects and facial anomalies

Treatment:
Calcium supplementation for hypocalcemia; surgical correction of heart defects and cleft palate; thymus transplant or HSCT for severe immune deficiency

Medications:
Calcium and vitamin D supplementation, prophylactic antimicrobials, and in severe cases, thymus transplantation.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 4,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Usually de novo mutations, though familial inheritance occurs in about 10% of cases.

Prognosis: The expected outcome or course of the condition over time.
Variable; depends on severity of heart defects and immune dysfunction. Early interventions improve outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe infections; developmental and learning disabilities; psychiatric disorders like schizophrenia