Two cases with presumptive diagnoses of SCID variants are described. Case1: LA, female infant age 6 months. Clinical history of Candida diaper rash at 3 mo., presumptive PCP at 4 mo. and failure to thrive. Birth, FTND, no hypocalcemia, no heart defect or facies of DiGeorge syndrome. Consanguinity in parents (mother married to uncle). Immunizations: Hep B, DTP, IPV, Hib at 1 mo. Lab findings: Immunoglobulins (mg/dl): IgG 560, IgA 12 and IgM 58. Hep B antibody positive. Lymphocyte phenotyping: CD3:0, CD4:0, CD8:0, CD19:80% and CD16+56:19%. No PHA or MLC responses. Jak 3 results pending. Absence of thymic shadow on chest x-ray. Dilemma: normal immunoglobulins and Hep B Ab formation in absence of T cells. Is this SCID? Case 2: WS, male infant age 4 months. Clinical course characterized by generalized scaly hypopigmented skin rash since birth, protracted diarrhea, failure to thrive, recurrent bacterial infections and candida UTI. Family history significant for infant deaths in 3 maternal uncles. Skin biopsy revealed eosinophilia, GI biopsy showed villous atrophy and eosinophilic infiltrates. IgE RAST: elevated for milk proteins, corn and wheat. CBC: leukocytosis (WBC 14 - 60×103) from birth, peripheral eosinophilia at 8%-12% , no lymphopenia. Lymphocyte phenotyping: normal T and B cells with mild increase in CD4+45+RO subset. Lymphoproliferative responses: mildly suppressed responses to mitogens, moderately impaired responses to alloantigens, severely impaired responses to recall antigens. Immunoglobulins: IgG 202 mg/dl , IgE 5937 IU/ml , normal IgA and IgM. Dilemma: Is this Omenn's syndrome?
|Original language||English (US)|
|State||Published - Mar 20 1998|
ASJC Scopus subject areas
- Molecular Biology