E-Poster Discussion Diagnostics

UNBIASED GENOMIC APPROACH TO MOLECULAR DIAGNOSIS IN PATIENTS WITH IMMUNE SYSTEM DYSFUNCTION LEADS TO UNEXPECTED MOLECULAR FINDINGS, MULTIPLE DIAGNOSES AND SECONDARY FINDINGS.

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SPONTANEOUS SOMATIC REVERSION IN A SUBSET OF CD4+ T CELLS IN A PATIENT WITH X-LINKED HYPER IGM SYNDROME (CD40L DEFICIENCY)

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STIM-1 GENE MUTATIONS IN A GROUP OF PATIENTS
MOLECULAR GENETIC TESTING IN IMMUNE DISORDERS IN AZERBAIJANIAN CHILDREN
MEASUREMENT OF IMMUNOGLOBULIN G LEVELS FROM DRIED BLOOD SPOTS (IG-DBS)
FLOW-CYTOMETRIC ASSAY FOR SPECIFIC CELL-MEDIATED IMMUNE-RESPONSE IN ACTIVATED WHOLE BLOOD (FASCIA) IS EMPLOYABLE IN COMBINED IMMUNODEFICIENCY (CID) DIAGNOSTICS
A FAMILY WITH A RARE TYPE OF CHRONIC GRANULOMATOUS DISEASE WITH NORMAL OXIDATIVE BURST
FAMILY CASE: DELAYED DIAGNOSIS OF 4 PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA.
CLINICAL SPECTRUM OF WISKOTT-ALDRICH SYNDROME IN TWO PATIENTS WITH AND WITHOUT WASP EXPRESSION
CASE REPORT: LRBA DEFICIENCY CAUSED BY MATERNAL WHOLE CHROMOSOME 4 UNIPARENTAL ISODISOMY
CDNA AND TARGETED RNA SEQUENCING TO UNRAVEL HIDDEN GENETIC DEFECTS IN PID PATIENTS WITH ONLY ONE-DISEASE RELATED VARIANT IN GENES WITH RECESSIVE INHERITANCE
LATE ONSET COMBINED IMMUNE DEFICIENCY: A DISTINCT PHENOTYPE OF VARIABLE COMMON IMMUNE DEFICIENCY