Condition Lookup
Sub-Category:
Immune Deficiencies
Number of Conditions: 3
Severe Combined Immunodeficiency (SCID)
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Immune Deficiencies
Symptoms:
frequent severe infections; failure to thrive; persistent diarrhea; poor wound healing; skin rashes
Root Cause:
Mutations in genes critical for T-cell and B-cell development, resulting in a severely compromised immune system.
How it's Diagnosed: videos
Newborn screening (TREC assay), blood tests to assess T-cell numbers and function, genetic testing to identify causative mutations.
Treatment:
Hematopoietic stem cell transplantation (HSCT), gene therapy (for specific mutations), and enzyme replacement therapy (in adenosine deaminase deficiency-related SCID).
Medications:
Preventative antimicrobials (e.g., trimethoprim-sulfamethoxazole for infection prophylaxis); immunoglobulin replacement therapy to prevent infections; corticosteroids to reduce inflammation in some cases.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 58,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of SCID, consanguineous parentage.
Prognosis:
The expected outcome or course of the condition over time.
Without treatment, fatal within the first year of life due to infections; with early intervention, survival rates improve dramatically (80-90% with HSCT).
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic infections, graft-versus-host disease (after HSCT), and long-term immune dysfunction.
Chronic Granulomatous Disease (CGD)
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Immune Deficiencies
Symptoms:
recurrent bacterial and fungal infections; abscess formation; chronic inflammation; failure to thrive; skin granulomas
Root Cause:
Mutations in genes affecting the NADPH oxidase complex, leading to impaired production of reactive oxygen species by phagocytes and defective pathogen killing.
How it's Diagnosed: videos
Nitroblue tetrazolium (NBT) test, dihydrorhodamine (DHR) flow cytometry assay, and genetic testing.
Treatment:
Bone marrow transplantation (curative in some cases), prophylactic antibiotics and antifungals, and interferon-gamma therapy to boost immune response.
Medications:
Trimethoprim-sulfamethoxazole for bacterial infection prophylaxis; itraconazole or voriconazole for antifungal prophylaxis; interferon-gamma injections to enhance immune function.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 200,000 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
X-linked or autosomal recessive inheritance patterns; family history of CGD.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong susceptibility to infections; improved survival with modern treatments but risk of chronic inflammatory complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic inflammation (leading to bowel strictures or obstructions), liver abscesses, and autoimmune-like symptoms.
Hyper-IgM Syndrome
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Immune Deficiencies
Symptoms:
recurrent respiratory and gastrointestinal infections; failure to thrive; enlarged lymph nodes; autoimmune conditions; opportunistic infections
Root Cause:
Mutations in genes affecting CD40-CD40L signaling, leading to defective immunoglobulin class switching and low IgA, IgG, and IgE levels with elevated IgM levels.
How it's Diagnosed: videos
Serum immunoglobulin levels (showing high IgM and low IgG, IgA, and IgE), genetic testing, and flow cytometry for CD40 ligand expression.
Treatment:
Immunoglobulin replacement therapy, prophylactic antibiotics to prevent infections, and bone marrow transplantation (potentially curative in severe cases).
Medications:
Intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG) for antibody replacement; trimethoprim-sulfamethoxazole for Pneumocystis jirovecii prophylaxis; antifungals (e.g., fluconazole ) as needed.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 1 in 1,000,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
X-linked inheritance (most common type); family history of immunodeficiencies.
Prognosis:
The expected outcome or course of the condition over time.
Variable; severe infections and complications without treatment can reduce life expectancy, but prognosis improves significantly with immunoglobulin therapy and appropriate care.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic liver disease, lymphoma, and severe opportunistic infections (e.g., Cryptosporidium leading to biliary tract complications).