[CIS PIDD] [cis-pidd] teenage girl with T-cell lymphopenia, low IgG, and hematuria

[CIS-PIDD]

If the parents are from the same small town, consanguinity is very possible.  A microarray for  areas of non-heterozygosity would help answer that question.

Joe Church
Children’s Hospital Los Angeles

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Wednesday, September 09, 2015 8:14 AM
To: CIS-PIDD
Subject: [cis-pidd] teenage girl with T-cell lymphopenia, low IgG, and hematuria


  Dear professors and colleagues,

   I would appreciate any thoughts on a puzzling case we're following in Mexico:

   She's a 15-year-old girl from rural central Mexico with no known consanguinity.
   She has tolerated live vaccines well, and has no microcephaly, mental retardation or dysmorphic features.

    Started at age 10 with pneumonia.  She was found to have mitral stenosis.
    She then developed gross hematuria and nephrotic range proteinuria, and was diagnosed with glomerulonephritis.
    Workup showed T-cell (CD3+) lymphopenia and low serum IgG (normal IgA and IgM), with normal B-cell numbers (CD19+ 42%).  She had a normal lymphoproliferation assay and antibody response to polysaccharide antigens.

     My differential diagnosis list is very short and doesn't fit.  I was thinking maybe lupus?  But perhaps you've seen a similar patient or can think of a late-onset PID that would fit...?

      Thank you in advance for your time and any advice.

    Best regards,

Saul Lugo.





--
Saúl Oswaldo Lugo Reyes

Investigador en Ciencias Médicas
Unidad de Investigacion en Inmunodeficiencias
9° piso, Torre de Investigacion,
Instituto Nacional de Pediatria
Coyoacan 04530 DF, Mexico
+52(55)10840900 ext. 1866
--------------------------------------
"La penicilline guérit les humains; le vin les rend heureux"
"If penicillin cures sicknesses, Jerez resuscitates dead people". -Sir Alexander Fleming

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