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

Tue May 20 07:06:45 EDT 2014

Dear Luis Ignacio,

Thank you for your suggestion.
No cafe-au-lait spots on skin patient.
PMS2 deficiency possible. 
Thank you.

Best regards,
Sorin. 

From: nachgonzalez at gmail.com
Date: Mon, 19 May 2014 20:06:22 +0200
Subject: Re: [cis-pidd] Kind request from a pediatrician
To: cis-pidd at lists.clinimmsoc.org

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-GranadoImmunodeficiencies UnitPediatric Hematology & Oncology UnitHospital 12 octubreMadrid. 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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