[CIS PIDD] [cis-pidd] advice on immuno-oseous dysplasia, please

[CIS-PIDD]

   Dear professors and colleagues,

   We are following a 3-year-old girl in Monterrey, Mexico, born to
non-consanguineous parents, with a healthy brother and no relevant family
history; who presented at birth with short stature and developed during the
first year recurrent pneumoniae with chronic lung disease, gastroesophageal
reflux, oral candidiasis, and chronic malabsorptive diarrhea.

    She has a small triangular head with prominent forehead and
disproportionate lower limbs. Karyotype is 46XX, normal.  There is
persistent peripheral lymphopenia, around 700 per mm3. Pseudomonas
aeruginosa was grown from bronchioalveolar lavage.  Serum Igs are high at
IgG 1809 , IgM 311, IgA 349mg/dL.   CD3+ lymphocytes are low at 277.

      She has now developed severe hemolytic anemia (Hb 4g/dL) and
headaches.

      We believe it might be Cartilage-hair hypoplasia, but since we lack
experience, we thought we should ask around for treatment advice, and/or
help pursuing genetic diagnosis.

       Thank you for your time and any help or information.

   Best,

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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