[CIS PIDD] [cis-pidd] Kind request from a pediatrician

[Nacho Gonzalez]

Dear Sorin,

Café-au-lait skin spots? PMS2 deficiency (but too leaky for me)
Proliferation tests? I would consider RAG / *Artemis *(did you consider DNA
repair test on fibroblasts?) as they are well known causes of
pseudo-HyperIgM

Regards,

Luis Ignacio Gonzalez-Granado
Immunodeficiencies Unit
Pediatric Hematology & Oncology Unit
Hospital 12 octubre
Madrid. Spain





2014-05-19 19:41 GMT+02:00 sorin iurian <iurian_sorsab at hotmail.com>:

>  Dear Distinguished CIS Members,
>
>
> My name is Iurian Sorin and I am pediatrician interested in PIDs. I work
> in Pediatric Clinic from Sibiu, Romania. I need your expert opinion about a
> child case.
>
>
> *Case history*:
>
> - 18 month-old boy, rural, 4th child in the  family; non-consanguineous
> parents; 3 healthy brothers;
>
> - many previous admittings due to purulent otitis media (bilateral) and
> pneumonia.
>
>
> *Clinical exam*:
>
> - weight < 3rd percentile (6.5 kg at 18 months of age); severe
> generalized hypotonia; skin rash;
>
> - no dysmorphic features suggestive for NEMO deficiency;
>
> - purulent secretions at both ear canals; both tympanic membrane
> perforations;
>
> - hepatomegaly and splenomegaly; no lymph node enlargement.
>
>
>  *Investigations*:
>
> - anaemia; hepatitis (autoimmune ?); very low serum complement level;
>
> - flowcytometry from peripheral blood: CD3 = 40% (CD4 = 34%, CD8 = 6%);
> CD19 = 7%, NK = 42%;
>
> - flowcytometry from bone marrow: large population (~ 30%) of B cells
> precursors (CD10+ CD20+);
>
> - serum immunoglobulin isotypes: IgA = 5 mg/dl, IgG = 100, IgM = 228 (*Hyper-IgM
> syndrome*); low IgE serum level (24 KUI/l); gammaglobulines on protein
> electrophoresis (July 2013) = *3.7%;*
>
> - quantitative DNA for Epstein-Barr virus in serum: negative;
>
> - normal expression of CD40L on T cells and normal expression of CD40 on B
> cells;
>
> - sequencing of CD40L / UNG/ AID genes – no anomalies;
>
> - alpha –fetoprotein serum level: normal;
>
> - evaluation of hot spot mutation (E1021K) involved in PI-3-PK gain
> function: negative
>
> - the patient wasn’t evaluated for SH2D1A mutation.
>
>
>  *Treatment: *Iv Ig immunoglobulines; according to IgG level, patient
> didn’t need frequent  Ig substitution therapy (he received IVIg every 2
> months);
>
>
>  *Evolution*:  Gammaglobulines level (May 2014) has increased (*50.4%); *IgM
> serum value has increased dramatically (in May 2014: IgM = 7969 mg/dl - 43
> times higher than upper level of normal range).
>
>
>  *Conclusions*. Even though the patient rarely necessitated
> immunoglobulin replacement therapy (IRT), IgM serum values have gradually
> increased. In addition, period of time between IRT has also increased.
>
>
> May I ask about your opinion regarding the diagnosis ? Any suggestion is
> very useful for me.
>
> Thank you.
>
>
>
> Best wishes,
>
>
>  Sorin Iurian, MD PhD
>
> Pompeiu Onofreiu Street no. 2-4, 550166,
>
> Sibiu, Romania.
>
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