PRIMARY IMMUNODEFICIENCY DISEASES :
1. COMBINED IMMUNODEFICIENCIES
A. SEVERE COMBINED IMMUNODEFICIENCY ( SCID )
- RECOMBINASE ACTIVATING GENE ( RAG 1/2 ) DEFICIENCY
- ADENOSINE DEAMINASE (ADA) DEFICIENCY
- INTERLEUKIN RECEPTOR GAMA CHAIN DEFICIENCY
- JANUS-ASSOCIATED KINASE 3 DEFICINECY
- RETICULAR DYSGENESIS
B. PRIMARY T CELL IMMUNODEFICIENCY
- DIGEORGE SYNDROME
- NUDE SYNDROME
- T CELL RECEPTOR DEFICIENCY
- MHC CLASS II DEFICINECY
- TAP-2 DEFICINECY ( MHC CLASS I DEFICIENCY )
- ZAP70 TYROSINE KINASE DEFICIENCY
- PURINE NUCLEOTIDE PHOSPHORYLASE
(PNP) DEFICIENCY
2. PREDOMINANTLY ANTIBODY DEFICIENCIES
A. X-LINKED AGAMMAGLOBULINEMIA ( BRUTONS TYROSINE KINASE DEFICIENCY)
B. AUTOSOMAL RECESSIVE AGAMMAGLOBULINEMIA
- MU HEAVY CHAIN DEFICIENCY
- SURROGATE LIGHT CHAIN DEFICIENCY
C. HYPER-IGM SYNDROME
- X-LINKED (CD40 LIGAND DEFICIENCY)
- OTHER
D. IG HEAVY CHAIN GENE DELETIONS
E. IGA DEFICIENCY
F. SELECTIVE DEFICIENCY OF IGG SUBCLASSES ( WITH OR WITHOUT IGA DEFICIENCY ) COMMON VARIABLE IMMUNODEFICIENCY (CVID)
G. ANTIBODY DEFICIENCY WITH NORMAL IMMUNOGLOBULINS
H. TRANSIENT HYPOGAMMAGLOBULINEMIA OF INFANCY
3. OTHER WELL DEFINED IMMUNODEFICIENCY SYNDROMES
A. INTERFERON GAMA RECEPTOR DEFICIENCY
B. INTERLEUKIN 12 & INTERLEUKIN 12 RECEPTOR DEFICIENCY
C. IMMUNODEFICIENCY WITH THYMOMA
D. WISKOTT-ALDRICH SYNDROME (WAS PROTEIN DEFICIENCY )
E. ATAXIA TELANGIECTASIA (ATM DEFICIENCY )
F. X-LINKED LYMPHOPROLIFERATIVE SYNDROME
G. HYPER IGE SYNDROME
4. IMMUNODEFICIENCY ASSOCIATED WITH OR SECONDARY TO OTHER DISEASES
A. CHROMOSOMAL INSTABILITY OR DEFECTIVE REPAIR
- BLOOM SYNDROME
- XERODERMA PIGMENTOSUM
- FANCONI ANEMIA
- ICF SYNDROME
- NIJMEGEN BREAKAGE SYNDROME
- SECKEL SYNDROME
B. CHROMOSOMAL DEFECTS
- DOWN SYNDROME ( TRISOMY 21)
- TURNER SYNDROME
- DELETIONS OR RINGS OF CHROMOSOME 18
C. SKELETAL ABNORMALITIES
- SHORT LIMBED SKELETAL DYSPLASIA( SHORT-LIMBED DWARFISM)
- CARTILAGE-HAIR HYPOPLASIA ( METAPHYSEAL CHONDROPLASIA )
D. IMMUNODEFICIENCY WITH GENERALISED GROWTH RETARDATION
- SCHIMKE IMMUNO-OSSEOUS DYSPLASIA
- DUBOWITZ SYNDROME
- KYPHOMELIC DYSPLASIA WITH SCID
- MULIBREYS NANNISM
- GROWTH RETARDATION, FACIAL ANOMALIES & IMMUNODEFICIENCY
- PROGERIA
E. IMMUNODEFICIENCY WITH DERMATOLOGIC DEFECTS
- ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME
- IMMUNODEFICIENCY WITH ABSENT THUMBS, ANOSMIA, ICTHYOSIS
- PARTIAL ALBINISM
- DYSKERATOSIS CONGENITA
- NETHERTON SYNDROME
- ANHIDROTIC ECTODERMAL DYSPLASIA
- PAPILLON-LEFEVRE SYNDROME
- CONGENITAL ICHTHYOSIS
F. HEREDITARY METABOLIC DEFECTS
- ACRODERMATITIS ENTEROPATHICA
- TRANSCOBALAMIN 2 DEFICIENCY
- TYPE I HEREDITARY OROTIC ACIDURIA
- INTRACTABLE DIARRHOEA, ABNORMAL FACIES, TRICHORRHEXIS & IMMUNODEFICIENCY
-METHYLMALONIC ACIDEMIA
- BIOTIN DEPENDENT CARBOXYLASE DEFICIENCY
- MANNOSIDOSIS
- GLYCOGEN STORAGE DISEASE, TYPE IB
- CHEDIAK-HIGASHI SYNDROME
G. HYPERCATABOLISM OF IMMUNOGLOBULIN
- FAMILIAL HYPERCATABOLISM
- INTESTINAL LYMPHANGIECTASIA
H. OTHER
- CHRONIC MUCO-CUTANEOUS CANDIDIASIS
- HEREDITARY OR CONGENITAL HYPOSPLENIA OR ASPLENIA
- IVERMARK SYNDROME
SECONDARY IMMUNODEFICIENCY DISEASES :
- AIDS
- IMMUNE DEFICIENCY ASSOCIATED WITH MALNUTRITION , PROTEIN LOSING ENTEROPATHY , INTESTINAL LYMPHANGIECTASIA , MYOTONIC DYSTROPHY, LYMPHORETICULAR MALIGNANCY
- IMMUNODEFICENCY RESULTING FROM TREATMENT WITH X-RAYS , ANTILYMPHOCYTE ANTIBODIES OR IMMUNOSUPPRESSIVE DRUGS
OTHER TESTS :
* SERUM IGD , IGE LEVELS
* QUANTIFICATION OF BLOOD MONONUCLEAR CELL POPULATIONS BY IMMUNOFLUORESCENCE ASSAYS EMPLOYING MONOCLONAL ANTIBODY MARKERS :
- T CELLS : CD3 , CD4 , CD8 , TCR ALPHA-BETA , TCR GAMA-DELTA
- B-CELLS : CD19 , CD20 , CD21 , IG ( MU , DELTA , GAMA , ALPHA , KAPPA, LAMBDA ) , IG ASSOCIATED MOLECULES ( ALPAHA , BETA )
- NK CELLS ( NATURAL KILLER CELLS ) : CD16/CD56
- MONOCYTES : CD15
- ACTIVATION MARKERS : HLA-DR , CD25 , CD80 (B CELLS) , CD154 ( T CELLS )
* T CELL FUNCTIONAL EVALUATION :
- DELAYED HYPERSENSITIVITY SKIN TESTS ( PPD, CANDIDA , HISTOPLASMIN , TETANUS TOXOID )
- PROLIFERATIVE RESPONSE TO MITOGENS ( ANTI-CD3 ANTIBODY , PHYTOHEMAGGLUTININ , CONCANAVALIN A ) & ALLOGENEIC CELLS ( KIXED LYMPHOCYTE RESPONSE )
- CYTOKINE PRODUCTION
* B CELL FUNCTIONAL EVALUATION
- NATURAL OR COMMONLY ACQUIRED ANTIBODIES : ISOHEMAGGLUTININS ; ANIBODIES TO COMMON VIRUSES ( INFLUENZA , RUBELLA , RUBEOLA ) & BACTERIAL TOXINS ( DIPHTHERIA, TETANUS)
- RESPONSE TO IMMUNIZATION WITH PROTEIN ( TETANUS TOXOID)& CARBOHYDRATE ( PNEUMOCOCCAL VACCINE , H. INFLUENZAE B VACCINE ) ANTIGENS
- QUANTITATIVE IGG SUBCLASS DETERMINATIONS
* COMPLEMENT
- CH50 ASSAYS ( CLASSIC & ALTERNATIVE PATHWAYS )
- C3 , C4 & OTHER COMPONENTS
* PHAGOCYTE FUNCTION
- REDUCTION OF NITROBLUE TETRAZOLIUM
- CHEMOTAXIS ASSAYS
- BACTERICIDAL ACTIVITY