A case of immunodeficiency
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A case of immunodeficiency

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  • More than 95 types of primary immunodeficiency disorders have been characterized. The frequency of immunodeficiency syndromes in the United States is unknown. Based on registries of other countries, the frequency is estimated to be approximately 1:100,000.
  • The age of presentation of symptoms for immunodeficiency states can give a clue to the diagnosis. The diagnosis of antibody immunodeficiency in infants is always complicated by the presence of maternal antibody for up to the first six months of life in the developing child.

A case of immunodeficiency A case of immunodeficiency Presentation Transcript

  • Dr Ranjith kumar Dr Janani Sankar’s unit Senior consultant KKCTH
  • Case history
    • 2yrs,Male child
    • 1 st Born to non-consanguinous
    • Apparently well till 5months
    • H/O ulceration over left leg x 10days
    • H/O fever x 2days
    • H/O recurrent scalp ulceration, with alopecia.
    • Past H/O recurrent furuncles all over body
  • On examination
    • Multiple old healed scars of furunculosis
    • A non healing ulcer over left leg with black surface
    • Otitis externa of right pinna & EAM with black surface
    • Near empty TONSILLAR FOSSA
    • Cervical lymphnode were not palpable
    • Hepato-splenomegaly
    • Signs of malnutrition  chelitis
    • apthous ulcer
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  • Investigations
    • C.B.C:- Leucopenia -> neutropenia (A.N.C:32)
    • Anemia .
    • normal platelet count
    • Coagulation work up : normal
    • Mantoux : NR
    • HIV: NR
    • Immunoglobulin profile:
    • Ig G: 7 (610-1380)
    • Ig A: 4.3 (30-240) panhypogammaglobuilinemia
    • Ig M: 24 (20-134)
    • Blood c/s: Pseudomonas
    • Pus c/s : Pseudomonas & ESBL E coli
    • N.B.T test: impairment of phagocytosis.
    • B & T cell flow cytometry :
    • CD 3 T-cell : 92% (55-82)
    • %CD19(earliest B-cell) : 0.05% (11-45)
    • Absolute CD19 count : 02% (430-3300)
    • Absolute CD3 count : 2788 (1900-5000)
    • CD 19 defective –primary B cell defect
    • excluded Primary T cell defect &
    • combined immunodeficiency
    • Possible D/D: Primary B cell defect
    • Probable Agamma globulinemia –x- linked/AR
  • TREATMENT
    • IvIg 400mg/kg stat dose
    • Antibiotics according to sensitivity pattern
    • Debridement for ulcer
    • PCP prophylaxis: septran
  •  
  • Primary Immunodeficiency Phagocytic 18% Antibody 50% Combined 20% Cellular 10% Complement 2%
  • Diagnosis of Primary Immunodeficiency History
    • Birth to 3 months
      • Phagocytic cell defects
      • Complement defects
      • DiGeorge syndrome
    • 3 to 6 months
      • Severe combined immunodeficiency (SCID)
    • 6 to 18 months
      • X-linked agammaglobulinemia
    • 18 months through adulthood
      • Common variable immunodeficiency
      • Complement defects
    Onset of Symptoms
  • Eight or more new ear infections within 1 year. Recurrent, deep skin or organ abscesses. Two or more serious sinus infections within 1 year. Persistent thrush in mouth or elsewhere on skin, after age 1. Two or more months on antibiotics with little effect. Need for intravenous antibiotics to clear infections. Two or more deep-seated infections. A family history of Primary Immunodeficiency. Two or more pneumonias within 1 year. Failure of an infant to gain weight or grow normally. The 10 Warning Signs Of Primary Immunodeficiency * adapted from Jeffrey Modell Foundation
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  • APPROACH
    • IF SYMPTOMS S/O IMMUNODEFICIENCY
    • Intial screening-  C.B.C, DC, ESR
    • if N  chronic
    • neutrophilia ANC bact/fungal inf unlikely
    • But signs of inf absent N
    • LAD Excludes cong & acq.neutropenia
    • LAD
    • B cell def approach
    • serum Ig levels
    • Low Ig A High Ig M All Ig low
    • Ig A def. Hyper IgM syn Agammaglobulinemia
    • CVID
    • FLOW CYTOMETRY Combined B&T disorder
    • EXCLUDE: corticosteroid intake
    • protein losing enteropathy
    • Agammaglobulinemia
    • FLOW CYTOMETRY
    • B cell number
    • Absent Present
    • X.L.A CVID
    • prone for autoimmune dis Ig A def.
    • Hyper igM syndr
  • For T cell defect
    • Screening test: ALC
    • Skin test
    • Positive negative
    • Preclude T cell ds T cell subset
    • Flowcytometry
    • absent present
    • SCID sub pop
    • CD4/CD8
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  • Primary Immunodeficiency Diseases occur when there is a defect in any one of the many steps during lymphocyte development
  • TREATMENT OPTIONS AVAILABLE FOR B CELL DISEASE
    • Stem cell Transplantation:
    •  CD40 ligand deficiency
    •  XLP
    • IvIg  400mg/kg /month life long
    • Anaphylactic reaction to IvIg  CVID &IgA deficiency
    • Antibiotic prophylaxis for PCP  Co-Trimoxazole
  • TAKE HOME MESSAGE
    • Detailed history & clinical examination important
    • High index of suspicion
    • Confirmation of diagnosis important
    • Counseling of parents for next pregnancy
  •