[CIS-PAGID] Infant with lymphopenia, elevated IgG and IgM, bony changes, PCP

[Tamara Pozos]

Thanks back Jason!
1) Anemia thought to be partly the thal trait, plus some destruction - normal marrow, good retics - she was transfused for the Hgb of 7.
Haven't checked antiplatelet antibodies.  Thrombocytopenia is improving with steroids, now ~400.
2) CRP was about 4 on presentation, peaked at 9 with PCP, now normal.  ESR very low, 10, then 2.
3) 2 mo vaccinations were given, and vaccine titers pending.
tcp







>>> <raas0027 at umn.edu> 12/01/10 7:50 PM >>>

Tam, interesting case and thanks for posting.

- Sorry if I missed it but any evidence the anemia and thrombocytopenia are 
autoimmune?

- ESR and CRP?

- Receive any immunizations yet? Even after one dose of conjugated 
vaccine(s) some specific antibody might be seen.

-OMENN SYNDROME is almost always a consideration. RAG1/RAG2 mutation 
phenotypes vary for sure. Activated T-cells and upper-limit normal RO, 
autoimmune cytopenias (if present in this patient), lymphopenia, 
LAD/splenomegaly, dermatitis, dysgammaglobulinemia all can be seen in OS. 
Skin findings in OS are variable. RAG1/RAG2 mutation analysis seems a 
reasonable candidate for the "to do" list.

- True Job (STAT-3) of course can have a newborn rash. IgE and eosinophilia 
may not appear until months later. Doesn't really fit but list of immune 
disorders with NB rash is fairly short and easy to at least entertain.


- GOod thought and agree that the newborn pustular rash/panniculitis and 
bone abnormalities could be suggestive of an autoinflammatory disorder such 
as IL-1RA deficiency/mutation. I think we'll find heterogenity in these 
disorders as well (just as in HIDS, TRAPS, FMF, etc.). [Wonder if increased 
IL-2, ferritin, etc are seen in these disorders?] I wouldn't entirly 
dismiss this just yet.

Wouldn't explain PCP or HLH-like findings for instance but as these types 
of disorders are also heterogeneous there may be a few processes going on 
at once. E.g. HLH or PCP secondary.

- Also interested to hear feedback from the community about NK cell defects 
and "Hyper IgM" disorders.


jason

Jason Raasch, MD


-- 
Jason Raasch, MD

Midwest Immunology Clinic
15700 37th Ave N
Suite 110
Plymouth, MN 55446

(Phone) 763.577.0008
(FAX)   763.5770192



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