Table of Immunodeficiency Disorders

Table of Immunodeficiency Disorders
CID with associated or syndromic features. These syndromes are generally associated with T-cell immunodeficiency. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies: Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan KE, Tang ML - Journal of clinical immunology (2015). Not altered. CC.
No.DiseaseCausesSymptomsDiagnosisTreatmentPrognosis
1X-linked AgammaglobulinemiaBruton tyrosine kinase deficiency causes a failure of B cell developmentmeningitis, bronchitis, pneumonia, sepsis, infectionsPCR)-based single-strand conformation polymorphism (SSCP). Immunoglobulin replacement therapy, oral antibiotics to treat infectionsgood
2Common Variable ImmunodeficiencyMutations in the genes which result in dysfunctional B cellsBreathing problems, chronic cough, diarrhoea, lung infections, pneumoniaimmunofluorescence staining,Ig replacement therapyreasonably good
3IgA Deficiencyintrinsic defects in B cells, anomalies in Th-cell,frequent infections or NO symptomsblood screening for IgA levelsProphylactic antibiotics for infectionsgood
4Hyper-IgM Syndromea variation in the CD40LG gene, X-linked recessive mutationTachypnea, bluish discoloration (cyanosis) of the skinflow cytometry, molecular genetic testingimmunoglobulin replacement therapyPoor
5DiGeorge Syndromedeletion of part of the long arm of chromosome 22underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lipFISH analysisthymus tissue transplant, abnormalities surgically repaired, antibioticsDepends on severity
6Severe Combined Immunodeficiencygenetic defects affecting the function of T cellsfrequent, often serious respiratory infections, chronic diarrhoeamultiple blood tests, flow cytometry, DNA sequencingbone marrow transplantPoor
7Wiskott–Aldrich syndromedefect in the WAS geneeczema arthritis, inflammatory bowel disease, nephritis, vasculitisBlood tests, DNA sequencing, flow cytometry, quantitative Ig levelsstem cell transplant, antibioticsPoor
8Ataxia TelangiectasiaATM gene Mutation on chromosome 11Decreasing mental development, Seizures, Severe respiratory infections recurringSerum Ig levels, gene sequencing, X-rayssymptomatic treatmentsgood
9AIDShuman immunodeficiency virus (HIV) severe fatigue, genital or anal sore, regular coughing and breathing problems, feverELISA Testantiretroviral therapy to protect CD4 cellsPoor