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

Mon May 19 14:15:44 EDT 2014

Head circumference? Looks like DNA-repair defects. 

P. 

Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron. Assistant Professor. Universitat Autònoma de Barcelona. 
Passeig de la Vall d'Hebron 119-129. 
08035 Barcelona. Spain. 
Tel: 0034934893140. Fax: 0034934893039. 
E-mail: psoler at vhebron.net ; 34660psp at comb.cat . Web: www.upiip.com . 

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----- Mensaje original ----- 
De: "Nacho Gonzalez" <nachgonzalez at gmail.com> 
Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> 
Enviados: Lunes, 19 de Mayo 2014 20:06:22 
Asunto: Re: [cis-pidd] Kind request from a pediatrician 

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, 4 th child in the family; non-consanguineous parents; 3 healthy brothers; 

- many previous admittings due to purulent otitis media (bilateral) and pneumonia. 

Clinical exam : 

- weight < 3 rd 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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