No. | Disease | Causes | Symptoms | Diagnosis | Treatment | Prognosis |
1 | X-linked Agammaglobulinemia | Bruton tyrosine kinase deficiency causes a failure of B cell development | meningitis, bronchitis, pneumonia, sepsis, infections | PCR)-based single-strand conformation polymorphism (SSCP). | Immunoglobulin replacement therapy, oral antibiotics to treat infections | good |
2 | Common Variable Immunodeficiency | Mutations in the genes which result in dysfunctional B cells | Breathing problems, chronic cough, diarrhoea, lung infections, pneumonia | immunofluorescence staining, | Ig replacement therapy | reasonably good |
3 | IgA Deficiency | intrinsic defects in B cells, anomalies in Th-cell, | frequent infections or NO symptoms | blood screening for IgA levels | Prophylactic antibiotics for infections | good |
4 | Hyper-IgM Syndrome | a variation in the CD40LG gene, X-linked recessive mutation | Tachypnea, bluish discoloration (cyanosis) of the skin | flow cytometry, molecular genetic testing | immunoglobulin replacement therapy | Poor |
5 | DiGeorge Syndrome | deletion of part of the long arm of chromosome 22 | underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip | FISH analysis | thymus tissue transplant, abnormalities surgically repaired, antibiotics | Depends on severity |
6 | Severe Combined Immunodeficiency | genetic defects affecting the function of T cells | frequent, often serious respiratory infections, chronic diarrhoea | multiple blood tests, flow cytometry, DNA sequencing | bone marrow transplant | Poor |
7 | Wiskott–Aldrich syndrome | defect in the WAS gene | eczema arthritis, inflammatory bowel disease, nephritis, vasculitis | Blood tests, DNA sequencing, flow cytometry, quantitative Ig levels | stem cell transplant, antibiotics | Poor |
8 | Ataxia Telangiectasia | ATM gene Mutation on chromosome 11 | Decreasing mental development, Seizures, Severe respiratory infections recurring | Serum Ig levels, gene sequencing, X-rays | symptomatic treatments | good |
9 | AIDS | human immunodeficiency virus (HIV) | severe fatigue, genital or anal sore, regular coughing and breathing problems, fever | ELISA Test | antiretroviral therapy to protect CD4 cells | Poor |