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

[CIS-PIDD]

While CHH and STAT5B are good starting points, there are clues that your patient might have something else. I don't think hypergammaglobulinemia is a feature in either of these. For CHH, the x-ray of long bones is quite characteristic - cone shaped epiphyses are almost diagnostic of RMRP mutations, so that's easy. Disproportionate dwarfism has not been reported in STAT5B deficiency, and the lung disease and lymphopenia both occur much later (onset usually around age of 7), so this would be unusual. At the expense of stating the obvious, 2 questions come to mind - what is the diagnosis, and what do we do for this child. Depending on what resources you have access to, an immune-deficiency gene panel or similar test would be the place to start. Opinion from a geneticist could also help. The hemolytic anemia, lung disease, and hypergammaglobulinemia indicate lymphoproliferation (we find pseudomonas in BAL quite often and it might just be colonization rather than real infection). A search on OMIM suggests disorders like Schimke immuno-osseous dysplasia. In the meantime, you need to treat the anemia with steroids and see if the lung disease gets better.

Ashish

Ashish Kumar, MD, PhD
Associate Professor of Pediatrics
Cincinnati Children's Hospital Medical Center
Bone marrow transplantation and immune deficiency

On Nov 30, 2017, at 11:51 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

CHH or STAT5b.  Easy screen for STAT5b is a prolactin level.


Sullivan, Kathleen MD PhD
Wallace Chair
Chief of Allergy Immunology
ARC 1216 CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363
sullivank at email.chop.edu<mailto:sullivank at email.chop.edu>



On Nov 30, 2017, at 11:49 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:



   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.





--
Sa?l Oswaldo Lugo Reyes

Investigador en Ciencias M?dicas
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 gu?rit les humains; le vin les rend heureux"
"If penicillin cures sicknesses, Jerez resuscitates dead people". -Sir Alexander Fleming

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