आई सी एम आर - राष्ट्रीय प्रतिरक्षा रुधिर विज्ञान संस्थान

ICMR-National Institute of Immunohaematology

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Centre of Excellence for Diagnosis Of Primary Immunodeficiency Disorders (PID)
  • Established state of art facilities for evaluation of suspected cases of IEIs.
  • To date, we have evaluated a total of 11510 cases suspected with PIDs, out of which diagnosis was achieved in 909 cases
  • Based on the results of screening tests, further specialized assays are performed followed by genetic confirmation of the underlying genetic defect using Sanger sequencing or next generation sequencing (NGS).
  • Established normal reference ranges of the rare lymphocyte subsets in our population.
  • Established facilities for prenatal diagnosis (PND) on cordocentesis, amniotic fluid samples and CVS by flow cytometry and molecular techniques.
  • So far prenatal diagnosis was offered in a total of 56 families (64 pregnancies) of these phenotypic prenatal diagnoses by cordocentesis were performed in 32 cases whereas molecular analysis was performed in 32 cases.
  • Prepared SOPs for the common tests performed for diagnosis of PIDs. We also prepared a policy brief for the government of India for supplying free IVIg therapy for patients with hypogammaglobulinemia.
  • Conducting regular annual flowcytometry training CME cum workshops since 2011 for clinicians and laboratory personnel for creating awareness about these disorders, and train the technologists, clinicians in India to diagnose and manage these disorders.
  • So far, conducted 13 training programmes training >800 participant across the country and also conducted various CMEs and awareness programmes for PID in different centres across India.
Established Diagnostic facilitates for IEIs
Lymphocyte subset analysis:
T cells and their subsets:
  • T helper (CD4+)/ T cytotoxic (CD8+)
  • Naïve (CCR7+/CD62L+/CD27+/CD45RA+)
  • Memory (CCR7+/CD62L+/CD27+/CD45RA-)
  • Effector (CCR7-/CD62L-/CD27-/CD45RA-)
  • TEMRA (CCR7+/CD62L+/CD27+/CD45RA-)
  • TsCM (CCR7+CD45RA+CD28+CD95+)
  • CD8+CD28-Tcell
  • Senescent (CD57+CD28-)
  • Exhausted (PD1+/Tim3+)
  • T follicular helper (CXCR5+CD45RA-PD1+)
  • Th1/ Tc1 like (CXCR3+CCR4-)
  • Th2/Tc2 like (CXCR3-CCR4+CCR6-)
  • Th17/ Tc17like (CCR4+CCR6+CCR10-)
  • Th9(CCR4-CCR6+)
  • Th22 (CCR4+CCR10+CCR6+)
  • Recent thymic emigrants (CD31+CD62L+CD45RA+)
  • ab + T cell (GD-)
  • gd + T cell (GD+)
Regulatory T cells and their subsets:
  • Treg (CD4/CD8) (CD25++CD127-/low)
  • Memory
  • Treg (CD95+CCR4+CD45RAlowHLADR+)
  • Naïve Treg (CD45RA+CCR4-/lowCD95-)
  • V beta repertoire analysis
B cells and their subsets:
  • Naïve (CD27-IgD+)
  • Memory (CD27+IgD+)
  • Class switched memory (CD27-IgM-IgD-)
  • Germinal centre (CD27+IgD-)
  • Marginal zone (CD27+IgD+IgM+)
  • IgM only memory (CD27+IgD-IgM+)
  • CD 21 low (CD21-/CD38-)
  • Plasmablast (CD27+CD24+CD38+)
  • Activated B cell (CD95+CD38-)
  • B reg (CD24++CD38++)
  • Transitional 1 (CD27-IgD+ CD24+ CD10+ CD38+)
  • Transitional 2 (CD27-IgD+CD10-CD38+)
  • Transitional 3 (CD27-IgD+CD10-CD38-)
DNT cells and their subsets:
  • B220+ : proliferative DNTs
  • CD27+CD28+ : Naïve DNTs
  • CD45RA-CD27-: Effectors DNTs
  • CD57+KLRG1- : senescent DNTs
Surface protein expression for the diagnosis
of specific IEIS:
  • Btk: X-linked agammaglobulinemia
  • CD127: IL-7 receptor a deficiency
  • CD132: X-linked SCID
  • CD18/CD11a/CD11b /CD11c: LAD-I
  • CD40: AR Hyper IgM syndrome
  • CD40L: X-linked HyperIgM syndrome
  • DOCK 8: DOCK-8 deficiency
  • WASp: Wiskott Aldrich Syndrome
  • p47, p22, p67: Chronic Granulomatous Disease
  • IL12Rb1: MSMD
  • IFNgR1: MSMD
  • CTLA4: CTLA4 haploinsufficiency
  • LRBA: LRBA deficiency
  • Perforin: FHL2
  • XIAP: XLP2
  • FoxP3: IPEX syndrome
  • NKg2D expression : XMEN syndrome
Functional Assays:
  • pSTAT1, pSTAT3, pSTAT4, pSTAT5
  • Granule release assay
  • NBTDHR/FMLP.
  • Apoptosis assay
  • CD154 expression
  • CD62L shedding
  • RBC ADA levels
  • T cell proliferation by PHA and anti CD3 and CD28
Other specialized tests:
  • TREC
  • T cell- V beta repertoire
  • Immunoglobulin levels: IgG, IgA, IgM, IgE levels
  • IgG subclass analysis (IgG2 and IgG4) and specific antibody responses (anti-tetanus antibodies and anti-typhoid antibodies)
  • Complement system evaluation: CH50 and AH50

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