Dr Ranjith kumarDr Janani Sankar’s unit
Senior consultantKKCTH
Case history
2yrs,Male child 1st Born to non-consanguinous Apparently well till 5monthsH/O ulceration over left leg x 10daysH/O fever x 2daysH/O recurrent scalp ulceration, with
alopecia.Past H/O recurrent furuncles all over body
On examinationMultiple old healed scars of furunculosisA non healing ulcer over left leg with black
surfaceOtitis externa of right pinna & EAM with
black surfaceNear empty TONSILLAR FOSSACervical lymphnode were not palpableHepato-splenomegalySigns of malnutrition chelitis apthous ulcer
Investigations C.B.C:- Leucopenia -> neutropenia (A.N.C:32) Anemia . normal platelet countCoagulation work up : normal Mantoux : NRHIV: NRImmunoglobulin profile: Ig G: 7 (610-1380) Ig A: 4.3 (30-240)
panhypogammaglobuilinemia Ig M: 24 (20-134)Blood c/s: PseudomonasPus c/s : Pseudomonas & ESBL E coliN.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
TREATMENTIvIg 400mg/kg stat doseAntibiotics according to sensitivity patternDebridement for ulcerPCP prophylaxis: septran
Primary Immunodeficiency
Phagocytic18%
Antibody50%
Combined20%
Cellular10%
Complement
2%
Onset of Symptoms
Diagnosis of Primary ImmunodeficiencyHistory
Birth to 3 monthsPhagocytic cell defectsComplement defectsDiGeorge syndrome
3 to 6 monthsSevere combined immunodeficiency
(SCID)6 to 18 months
X-linked agammaglobulinemia18 months through adulthood
Common variable immunodeficiencyComplement defects
Eight or more new ear infections within 1 year.
Recurrent, deep skin ororgan abscesses.
Two or more serious sinus infections within 1 year.
Persistent thrush in mouth orelsewhere on skin, after age 1.
Two or more months on antibiotics with little effect.
Need for intravenousantibiotics to clear infections.
Two or moredeep-seated infections.
A family history ofPrimary Immunodeficiency.
Two or more pneumonias within 1 year.
Failure of an infant to gainweight or grow normally.
The 10 Warning Signs Of Primary Immunodeficiency
**adapted from Jeffrey Modell adapted from Jeffrey Modell FoundationFoundation
APPROACH IF SYMPTOMS S/O IMMUNODEFICIENCY
Intial screening- C.B.C, DC,ESR if
Nchronic 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 defectScreening test: ALC
Skin test
Positive negative
Preclude T cell ds T cell subset
Flowcytometry
absent present
SCID sub pop
CD4/CD8
Primary Immunodeficiency Diseasesoccur when there is a defect in any one of the many steps during lymphocyte development
TREATMENT OPTIONS AVAILABLE FOR B CELL DISEASEStem cell Transplantation: CD40 ligand deficiency XLPIvIg 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 suspicionConfirmation of diagnosis important Counseling of parents for next pregnancy