[CIS PIDD] patient with susceptibility to herpetic infections

[Ales Janda]

Dear Alsina,
regarding the monocytes one should be careful as the values received 
from routine heamatology lab are usually based on FCC and SCC and can be 
falsely positive. So, to be sure that those cells are really monocytes 
one should consider immunophenotyping.
We also had one patient with GATA-2 deficiency with low B cells, 
recurrent viral infections, warts and progression to MDS who had 
monocytes though in a lower normal range. I guess that the phenotype of 
GATA-2 defect is rather broad and presence of some monocytes do not 
exclude this diagnosis.
best,
Ales

Dr. Ales Janda


UNIVERSITÄTSKLINIKUM FREIBURG
CCI - Centrum für Chronische Immundefizienz

Ales Janda, M.D., M.Sc., Ph.D.
Hospitant

Engesser Straße 4 - 2. OG, 79108 Freiburg
Tel:+49(0)761-270-77755
Fax:+49(0)761-270-62070
ales.janda at uniklinik-freiburg.de

www.uniklinik-freiburg.de




Am 10.09.2012 09:10, schrieb Laia Alsina Manrique de Lara:

>

>

> Thank you Pere and Joao,

>

> This patient has always had normal values of monocytes ( above 

> 500/mmcc). This rules out the possibility of a GATA2 deficiency, right?

> I cannot perform specific proliferation to HSV.

>

> As for the management of this patient, my main concern, any other 

> suggestion?

> Also, what do you think about NK us populations?

>

>

> Thank you ,

>

> Laia Alsina

> Allergy and Clinical Immunology Department

> Hospital Sant Joan de Deu,  Barcelona

>

>

> El 07/09/2012, a las 13:03, "João Farela Neves" <jpfn13 at gmail.com 

> <mailto:jpfn13 at gmail.com>> escribió:

>

>>

>> <ATT00001.c>

>> Hi Laia.

>>

>> Agree with Pere.

>> GATA2 should be excluded, specially regarding the relative B 

>> lymphocytopenia.

>>

>> What about T cell proliferation to HSV and CMV? If absent, don't 

>> overlook RAG...

>>

>> Although controversial, Have you gave a thought about valgancyclovir 

>> prophylaxis?

>>

>> Yours,

>>

>> João

>> João Farela Neves

>> Primary Immunodeficiencies Unit

>> Hospital dona Estefania

>> Lisbon

>> Portugal

>>

>>

>>

>> Enviado do meu iPhone

>>

>> No dia 07/09/2012, às 10:22, Pere Soler Palacin <psoler at vhebron.net 

>> <mailto:psoler at vhebron.net>> escreveu:

>>

>>>

>>> Dear Laia, we have a similar patient in whom MonoMac was diagnosed. 

>>> Nevertheless, I see that monocyte count is normal in this blood 

>>> test. Is there monocytopenia in previous exams?

>>>

>>> Yours,

>>>

>>> Pere.

>>>

>>>

>>> 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 <mailto:psoler at vhebron.net>; 

>>> 34660psp at comb.cat <mailto:34660psp at comb.cat>. Web: www.upiip.com 

>>> <http://www.upiip.com/>.

>>>

>>>

>>> No imprimir aquest correu ajudarà a preservar el medi ambient.

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>>> si us plau notifiqui-ho al remitent i destrueixi el missatge amb tot 

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>>>

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>>>

>>>

>>>

>>> ----- Mensaje original -----

>>> De: "Laia Alsina Manrique de Lara" <lalsina at hsjdbcn.org 

>>> <mailto:lalsina at hsjdbcn.org>>

>>> Para: pagid at list.clinimmsoc.org <mailto:pagid at list.clinimmsoc.org>

>>> Enviados: Viernes, 7 de Septiembre 2012 10:42:16

>>> Asunto: [CIS PIDD]  patient with susceptibility to herpetic infections

>>>

>>>

>>>

>>> Dear all,

>>>

>>> I follow in the Clinic a 5 yo male patient who displays a very 

>>> narrow infectious phenotype (viral infections, herpetic in particular).

>>>

>>> *Here is the summary of the clinical history:

>>> *

>>> Date of Birth: 29/07/2007

>>> Visit Date: 06/09/2012

>>>

>>> *Family history:

>>> *-No family history of consanguinity. Parents are from the 

>>> Philippines. Patient was born in Spain. No family history of 

>>> recurrent infections.

>>>

>>> *Personal history:

>>> *-Born preterm at 32 weeks, weight 1000 g (-2.6 SD), height 37 cm 

>>> (-3DS). IUGR. Oligohydramnios. As neonatal complications, wet lung 

>>> treated with CPAP during the first 30 hours of life.

>>> - November 2007 (4 months of age): respiratory infection by 

>>> influenza B virus (RSV-) and acute otitis media, requiring admission 

>>> 1 week with oxygen.

>>> - December 2007 (5 months of age): readmission for bronchiolitis. 

>>> Condensation in right upper lobe and retrocardium. RSV-, flu -. 

>>> After 2 weeks of admission he presents clinical worsening and was 

>>> transferred to our hospital PICU for ventilatory support. BAL 

>>> culture negative. Requires mechanical ventilation for 6 days with 

>>> maximum FiO2 50%, followed by NIV for 4 days.

>>> - January 2008 (6 months of age): two exacerbations of respiratory 

>>> symptoms, with same radiological findings, which are managed as 

>>> outpatient.  Associates diarrhoea with negative culture and ponderal 

>>> stagnation.

>>> - March 2008 (7 months): persistence of respiratory symptoms. 

>>> Admitted to hospital. A viral load for CMV is detected in 

>>> blood (2,058,000 copies / ml). Congenital CMV infection is ruled 

>>> out: negative PCR in Guthrie card and negative PCR in mother's 

>>> urine. No CMV VL can me determied in respiratory samples. Completed 

>>> 14 days of ganciclovir. VL to CMV is well controlled --> *diagnosed 

>>> of acquired CMV infection with pneumonitis.

>>> *- July 2009 (2 years): *severe varicella (generalized skin 

>>> lesions that end up scarring as a major burn injury) with severe 

>>> pneumonitis* requiring mechanical ventilation for 9 days, 

>>> complicated with ARDS. Source for VVZ: big brother at home. 

>>> During intubation, lesions consistent with Candida in larynx and 

>>> esophagus are observed. During this episode, the CV is reactivated 

>>> CMV in blood and BAL.

>>> - For the last 2 years, he has been suffering from recurrent upper 

>>> respiratory tract infections and bronchitis. No other severe 

>>> infections except fro a pneumonia in May 2011.

>>> - July 2012: starts growth hormone treatment (no catch up in height 

>>> at 4 yo, and past history of intrauterine growth retardation.

>>> -Surgery for hypospadias.

>>> -Correct vaccinations, including MMR (last dose in July 2012), no 

>>> vaccine reaction.

>>>

>>> *Physical examination:

>>> *Weight 15 kg (3rd percentile)

>>> Height 93 cm (3rd percentile)

>>> Physical exam: No dysmorphic. Chickenpox scar lesions in skin.

>>>

>>> *Supplementary examinations (21/08/2012):

>>> *CBC: Hemoglobin 11.1 g / dl, Hematocrit 38.8%, Platelets 411 

>>> thousand / mmcc (150-500), Leukocytes 13.5 Mil / mmcc (5.0 to 13.0), 

>>> absolute lymphocytes 5400/mm3. Monocytes: 0,6 Mil/mmcc (0,1-0,7).

>>>

>>>

>>> B lymphocytes 12%  (21 to 28). Absolute 648 /mmcc (390-1400).

>>> T lymphocytes 71% (62-69)

>>> T4 lymphocytes 25% (30 to 40). Absolute 1350/mmcc (1000-1800).

>>> T8 lymphocytes 45% (25-32)

>>> T4/T8 Index 0.68  (1.00 to 1.60)

>>> Natural Killer 8% (8 to 15) NKT cells present (see attached 

>>> subphenotype of NK cells).

>>> *--> Expansion of CD8 + and inversion of CD4/CD8 ratio.

>>> **--> PCR to CMV, VVZ, EBV, herpes simplex are negative.

>>> *

>>>

>>> Immunoglobulins

>>> Immunoglobulin G 19640 mg / L (4540-12000)

>>> Immunoglobulin A 1415 mg / L 244-1510

>>> Immunoglobulin M 1868 mg / L 436-1890

>>> Immunoglobulin E <1 KIU / L 0-59

>>> IgG subclasses

>>> Immunoglobulin G1 15763 mg / L 3200-9000

>>> Immunoglobulin G2 1727 mg / L 520 to 2800

>>> Immunoglobulin G3 2766 mg / L 140-1200

>>> Immunoglobulin G4 19 mg / L 10-1060

>>>

>>> *--> Expansion of IgG1 and IgG3.

>>> *

>>>

>>> Other studies

>>> -Study NK cytotoxicity and degranulation:

>>> --16/01/2012 Cytotoxicity reduced but not absent, with increased 

>>> expression of perforin in CD8 + with respect to control (indicates 

>>> hyper-activation of CTLs).

>>> --19/03/2012: Normal, both cytotoxicity and degranulation.

>>>

>>> -Test of lymphocyte proliferation to mitogens (PHA and PWD): normal

>>> -T lymphocyte phenotyping: normal (alphabeta populations: 91%, 

>>> gammadelta 7.5%, RO+: 24%; RA+: 65%).

>>> -CD18 expression: normal

>>> -MHC class 1 expression: normal

>>>

>>> -Isohemagglutinins and protein and polysaccharide vaccine responses: 

>>> normal

>>>

>>> -Ab VVZ IgG positive

>>> -Ab CMV IgG positive

>>>

>>> High resolution lung CT (16/01/2012): no bronchiectasis. Mild 

>>> diffuse air trapping. There are some small bilateral subpleural 

>>> dense linear image, probably related to discrete changes of 

>>> pulmonary dysplasia secondary to prematurity.

>>>

>>> Diagnosis:

>>>

>>> -increased susceptibility to viral infections, herpetic in particular.

>>>

>>> -a combined immunodeficiency is ruled out.

>>>

>>> -might be a functional NK cell deficiency?

>>>

>>> *My questions regarding this patient are:

>>> *1- Do you suspect a paticular PIDD? What other immunological tests 

>>> would you perform?

>>> 2- What management do you suggest? (early treatment of infections, 

>>> IVIG?).

>>>

>>> Thank you very much for your help,

>>>

>>>

>>> Dra. Laia Alsina

>>> Sección de Alergia e Inmunología Clínica

>>> Hospital Sant Joan de Déu

>>> Passeig Sant Joan de Déu nº2

>>> 08950 Esplugues de Llobregat, Barcelona

>>> +34932804000 ext 3330

>>> ________________________________________

>>>

>>>

>>> ------------------------------------------------------------------------

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>>>   ­­

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>> <ATT00003.c>

>

> ------------------------------------------------------------------------

> No imprimir aquest correu ajudarà a preservar el medi ambient.

> Si vostè no és el destinatari del missatge, o l'ha rebut per error, si 

> us plau notifiqui-ho al remitent i destrueixi el missatge amb tot el 

> seu contingut. Està prohibida la distribució no autoritzada del 

> contingut d'aquest missatge.

>

> No imprimir este correo ayudará a preservar el medio ambiente.

> Si usted no es el destinatario del mensaje, o lo ha recibido por 

> error, notifíquelo por favor al remitente y destruya el mensaje con 

> todo su contenido. Está prohibida la distribución no autorizada del 

> contenido de este mensaje.

>   ­­

>

>

> The CIS-PIDD listserv is supported by:

> Clinical Immunology Society - The science&  practice of human immunology

>

> P: +1.414.224.8095

> E: info at clinimmsoc.org

>

> Not a member of CIS? Please visit www.clinimmsoc.org to join!

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