[CIS-PAGID] Partial CD4 deficiency, autoimmunity, bronchiectasis

[Eleonora Gambineri]

Thank you all for the useful inputs!
Will surely look at DOCK8 and wait results from radiosensitivity assay  
that is ongoing already.

Best wishes,
Ele

-- 
Dott.ssa Eleonora Gambineri
Ricercatore Universitario
Universita' degli Studi di Firenze
Dipartimento della Salute della Donna e del Bambino
Ospedale Pediatrico "Anna Meyer"
Viale Gaetano Pieraccini,24
50139 FIRENZE
Tel 055 5662405 (ufficio)/055 5662606 (reparto TMO)
Fax 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it


Eleonora Gambineri, MD
Researcher/Assistant Professor
University of Florence
Department of Sciences for Woman and Child's Health
"Anna Meyer" Children's Hospital
Viale Gaetano Pieraccini,24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)/055 5662606(BMT ward)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it


----- Messaggio da fabriciopmonteiro at gmail.com ---------
     Data: Fri, 2 Dec 2011 13:19:09 -0200
       Da: Fabrício Prado Monteiro <fabriciopmonteiro at gmail.com>
Rispondi-A:pagid at list.clinimmsoc.org
  Oggetto: Re: [CIS-PAGID] Partial CD4 deficiency, autoimmunity, bronchiectasis
        A: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org>
       Cc: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org>



> Consider DOCK8!

>

> Dr. Fabrício Prado Monteiro

>

> Imunologista & Pediatra

>

> HFA-Dep. de Alergologia

>

> HRAS-Dep. de Pediatria.

>

> Il giorno 02/dic/2011, alle ore 12:45, "Dr. Carsten Speckmann"   

> <carsten.speckmann at uniklinik-freiburg.de> ha scritto:

>

>> As pointed out by you there is for sure a T cell problem. What is   

>> the picture of the muscular hypotonia? Enamel defect?

>> Ca chanelopathies present with normal absolute lymphocytes,   

>> clinical T cell deficiency and sometimes (i.e. STIM1) with   

>> autoimmunity.

>>

>> Carsten

>>

>> Am 02.12.11 15:07, schrieb Eleonora Gambineri:

>>>

>>> Dear all I would like your inputs on the case below:

>>>

>>>  21 mo/old girl

>>>

>>> FAMILY HISTORY unremarkable

>>>

>>> MEDICAL HISTORY: hx at birth unremarkable. At 7 mo of age she   

>>> started to suffer of recurrent respiratory infections (mainly   

>>> pneumonitis and bronchitis); at 15 mo: ? Enterovirus encephalitis   

>>> (no evidence at brain MRI and EEG, but positive PCR in liquor);   

>>> afterwards she had 4 pneumonitis (June-Sept 2011) with slow recovery

>>>

>>>  LAB W/U

>>>

>>>   Normal LFTs/U&E

>>>

>>>  Immunological W/U:

>>>

>>> WBC 9900/ul L 27.6% (2732/ul), Eo 22.6% (2237/ul) N 40.4% B 1.7%,   

>>> M 3,8%; Hb 11 g/dl, ferritin 2,7 ng/ml

>>>

>>> Partial CD4 deficiency (400-500/ul) with low/absent CD4/CD45/CD31+  

>>>  cells (absent TRECs) and expansion of memory phenotype both in  

>>> CD4  and CD8 subsets. Normal B cell numbers with good percentage  

>>> of  memory B cells.

>>>

>>> Antibody responses: POSITIVE to measles and varicella, NEG to   

>>> tetanus, HBV, difteria, HSV IgG positive, EBV IgG/IgM negative,   

>>> HHV6 IgG/IgM negative

>>>

>>> IgG 900 mg/dl, IgA64 mg/dl, IgM 233 mg/dl (increased), IgE negative

>>>

>>> TCR repertoire: high Vb6-5, 6-6, 6-9 (on CD8)…not sure if done on CD4

>>>

>>> In vitro lymphocyte proliferation assay: low response to PHA and   

>>> aCD3/CD28+IL2 (However, it was not confirmed in another lab)

>>>

>>> Alpha feto-protein: slightly deranged (13 UI/ml, NV 0.1-4.9)

>>>

>>> Coombs POSITIVE IgG; ANA POSITIVE (1:1280); aTPO POSITIVE (normal   

>>> thyroid function)

>>>

>>> Infection W/U

>>>

>>> CMV PCR POSITIVE on BAL; Pseudomonas Positive on BAL

>>>

>>> CMV, Adeno, EBV PCR negative on blood

>>>

>>>  IMMAGING:

>>>

>>>  Chest CT: bronchiectasis; Thyroid US: normal, lateral-cervical LN  

>>>  with increased size; Abdomen US: nil; Heart US: nil; Thymus  

>>> should  be present, but ask to review the scan (results still  

>>> pending)

>>>

>>>  O&E

>>>

>>> Normal growth

>>>

>>> No signs of intestinal malabsorption

>>>

>>> Ligamentous Hyperlaxity

>>>

>>> Muscle hypotonia (normal EMG at lower body, partly altered at   

>>> upper body, anti AchR Ab ongoing)

>>>

>>> No dimorphisms (she was reviewed by Geneticist); No hair   

>>> alterations; No bone abnormalities (at femur X Ray, total skeleton  

>>>  X-Ray TBD)

>>>

>>> No rash, but diffuse itchiness

>>>

>>> Chest: when in good conditions, crackles all over the chest with   

>>> minor distress. SatO2 in AA 93%, with episodes of desaturation at   

>>> night. She is at the moment on FKT.

>>>

>>> Liver: 1-2 cm below costal margin

>>>

>>> CV: systolic hypertension of unknown origin (no renal impairment,   

>>> no steroid treatment)

>>>

>>>  DIFFERENTIAL

>>>

>>>  At the moment the following condition have been excluded:

>>>

>>> - HLA I and II deficiency

>>>

>>> - ADA/PNP deficiency

>>>

>>> - RAG1/RAG2 mutations

>>>

>>> - IL7Ra deficiency

>>>

>>> - DGS (CGH array negative)

>>>

>>> - AT (aFP 13 is it indicative? no clinical signs?)

>>>

>>> - CHH, sequencing of RMRP ongoing at the moment

>>>

>>> Any other suggestion?

>>>

>>> We are assessing the patient to evaluate a possible HSCT from her   

>>> matched-sibling brother, although given the unknown nature of her   

>>> immune defects and the compromised pulmonary conditions do you   

>>> think it is feasible to proceed? My worry is regarding the thymus.  

>>>  What if there is an unknown thymus defect (immune deficiency and   

>>> dysregulation)? This might question the immune reconstitution   

>>> after HSCT. On the other hand the infection history of this girl   

>>> as well as her immune function do not suggest a mild disease   

>>> course and BMT seems the only option. I know it is a tricky   

>>> question, but I will really appreciate your help.

>>>

>>> Thanks for your cooperation!

>>>

>>> Best wishes,

>>>

>>> Eleonora

>>>

>>> *******************************************************************

>>> Dott.ssa Eleonora Gambineri

>>> Ricercatore Universitario

>>>

>>> Universita' degli Studi di Firenze, Dipartimento di Scienze per la  

>>>  Salute della Donna e del Bambino

>>> Ospedale Pediatrico "Anna Meyer", Dipartimento di Oncoematologia-Unità TMO

>>> Viale Gaetano Pieraccini, 24

>>> 50139 FIRENZE

>>> Tel 055 5662405 (ufficio)

>>>        055 5662606 (reparto T.M.O.)

>>> Fax 055 4221012

>>> e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it

>>>

>>> Eleonora Gambineri, MD

>>> Researcher/Assistant Professor

>>>

>>> University of Florence, Department of Sciences for Woman and Child's Health

>>> "Anna Meyer" Children's Hospital, Department of Haem/Onc-BMT Unit

>>> Viale Gaetano Pieraccini, 24

>>> 50139 FIRENZE

>>> ITALY

>>> Tel +39 055 5662405 (office)

>>>        +39 055 5662606 (BMT Unit)

>>> Fax +39 055 4221012

>>> e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it

>>> ********************************************************************

>>>

>>

>>

>> --

>> Dr. med. Carsten Speckmann

>> Facharzt

>> Zentrum fuer Kinderheilkunde und Jugendmedizin

>> Centrum fuer Chronische Immundefizienz - CCI

>> Universitaet Freiburg

>> Mathildenstr. 1

>> 79106 Freiburg

>> Germany

>>

>> phone: +49 (0)761-270 43010

>> mail: carsten.speckmann at uniklinik-freiburg.de

>> web: www.cci.uniklinik-freiburg.de

>>

>



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