[PAGID] Atypical CGD family

[dmvascon at usp.br]

Dear Sergio

Thank you very much for your answer. I will copy to Jose Marcos so you  
can contact.

All the best,

Dewton


Citando Sergio Rosenzweig <srosenzweig at garrahan.gov.ar>:


> Hi Dewton,

> Marco's patient looks elegible for HSCT, what is not that certain is if

> his brother is the best donor. I know about at least 1 CGD patient with

> gp91phox revertant mutations that presented similar to your patient's

> brother. Sequencing of the respiratory burst Pos and Neg populations

> would help. The European experience (Seger and Gennery) with MUD in CGD

> is encouraging, especially in children with no active inflammatory or

> fungal infections. Conditioning in Europe has been myeloablative and at

> NIH myelosupressive.

> Sergio

>

> Sergio D. Rosenzweig, MD, PhD

> Chief, Infectious Diseases Susceptibility Unit

> Laboratory of Host Defenses, NIAID, NIH

> 10 Center Dr., Bldg. 10, CRC 5W-3888

> Bethesda, MD 20892-1456

> Phone (301) 451 8971

> Fax (301) 451 7901

> Cell (240) 361 7617

> Pager 102 10678

> srosenzweig at niaid.nih.gov

>

> Disclaimer: The information in this e-mail and any of its attachments is

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>>>> <dmvascon at usp.br> 01/21/10 1:51 PM >>>

>

> I am posting this case presented to me by a colleague (Dr. Jose Marcos

> Cunha) from the Federal University of Rio de Janeiro. The patient is a

> 5 year old boy with a severe form of X-CGD, but there are some

> questions mainly on the BMT aspects.

>

> All the best,

>

> Dewton

>

>

> ?	6 m/o - hepatic abscesses (negative blood cultures; no abscess

> aspiration/drainage was performed). Tx: 4 weeks

> amoxicillin/clavulanate+ metronidazol + gentamicin plus 2 weeks

> amoxicillin/clavulanate

> ?	2 y/o ? Cervical lymphadenopathy ? Salmonella sp. ? cephalexin

> 14 days

> ?	3 y/o ? A new pet arrives: a turtle.

>       Then: Persistent diarrhea/intermittent fever ? Salmonella sp.

> enteritis (stool culture +) ?  Tx: SMX/TMP

> ?	3y 6 m/o ? Severe pneumonia. Initial Tx: amoxicillin/clavulanate

> +

> amphoB + anti-TB + steroids

>      BAL: Paecilomyces sp. ?  started on voriconazole, anti-TB

> discontinued

>       DHR test: abnormal ? 5 % (NR: 80-100%) ? CGD diagnosis

>       DHR tests: mother ? 80% (one peak, not suggestive of X-linked CGD)

> 		         brother ? 87% = normal (repeated 2x)

> ?	3 y 9 m/o -  Started on SMX/TMP + itraconazol (Beatriz

> Costa-Carvalho); 9 y/o healthy brother had also abnormal superoxide

> production (formal report missing)

> ?	CXR ? same images. Chronic cough/intermittent fever

> ?	Lung biopsy: granulomatous inflammation. No evidence for fungal

> or

> mycobacterial disease. Started on steroids (prednisolone 1 mg/kg).

> Clinical improvement; CXR: same aspect

> ?	High grade fever/chills: Abscess at surgical scar; spontaneous

> drainage. Discharged w/o culture of pus and oral amoxicillin/sulbactam

> ?	4 y/o ? Fever/Cough: Pneumonia ? no microbial isolation in

> BAL/blood

> cultures. Tx: Ciprofloxacin + (Bactrim + itraconazol)

> ?	4 y 3 m/o

> ?	 Steroid tapering. Bactrim + itraconazol

> ?	Parents refused to change to voriconazole and/or adding

> interferon

> gamma therapy

> ?	HLA typing for possible HSCT

> ?	Brother ? 100 % compatible

> ?	4 y 4 m/o ? Small erythematous lesion on right gluteus (insect

> sting?). Ocasional (intermittent) pain in right, knee, right tibia and

> right umerus

> ?	4 y 4 m/o

> ?	 USG of gluteal lesion: small amount of pus: FNA ? Serratia

> marcescens (sensitive: cefepime, ceftazidime; gentamicin, Taz/Pip;

> aztreonam;)

> ?	Started on cefepime IV tid

> ?	MRI: compatible with osteomyelitis (right proximal tibia, right

>

> umerus) ? drainage: Serratia liquefascens (tibia); Pseudomonas

> aeruginosa + Klebsiella pneumoniae (umerus)

> ?	Cefepime (continuous infusion) + voriconazole IV + SMX/TMP

> ?	Steroid (tapering) ? now with 0.5 mg/kg/day (prednisolone)

> ?	Waiting gamma-interferon

> ?	Check for donor?s molecular diagnosis?

>      (normal DHR 2x; abnormal superoxide production 1x; no clinical

> disease)

> ?	4 y 9 m/o

> ?	 USG of gluteal lesion: small amount of pus: FNA ? Serratia

> marcescens (sensitive: cefepime, ceftazidime; gentamicin, Taz/Pip;

> aztreonam;)

> ?	Started on cefepime IV tid

> ?	MRI: compatible with osteomyelitis (right proximal tibia, right

>

> umerus) ? drainage: Serratia liquefascens (tibia); Pseudomonas

> aeruginosa + Klebsiella pneumoniae (umerus)

> ?	Cefepime (continuous infusion) + voriconazole IV + SMX/TMP

> ?	Steroid (tapering) ? now with 0.5 mg/kg/day (prednisolone)

> ?	Waiting gamma-interferon

> ?	Check for donor?s molecular diagnosis?

>      (normal DHR 2x; abnormal superoxide production 1x; no clinical

> disease)

> ?	4 y 6m/o ? Day-clinic regimen (Pre-BMT)

> ?	Started on ertapenem (IV bid) + ciprofloxacin (IV) + SMX/TMP (PO

>

> bid) + Voriconazol (PO bid)

> ?	 Steroid (tapering) ? now with 0.5 mg/kg/day (prednisolone)

> ?	gamma-interferon 3x/week (SC)

>

> ?	Excellent response to IFN-gamma therapy (6 week-course, stopped

>

> Nov/2009) plus antibiotics  No evidence of osteomyelitis according to

> scintilography examinations (Dec/2009)

> ?	Lungs apper better on chest X-ray (Jan/2010)

> ?	Laboratory tests ? unremarkable results

> ?	Present medications: SMX/TMP,voriconazole,amoxycilin and

> prednisolone 0.5 mg/kg

> ?	Blood samples (patient?s and brother?s) were sent to new

> phagocyte

> function tests in São Paulo (Fleury Institute), due to previous

> conflicting results (reports of abnormal superoxide production (one

> test) and normal DHR oxidation (two tests) ? two different labs)

> ?	Results of this recent DHR oxidation test have show two

> neutrophil

> populations in the candidate donor?s blood (see flow profiles in the

> next slides)

> ?	Can the HLA-compatible brother be still considered a good donor

> ?

> ?	Can molecular diagnosis (gp91phox sequencing) help in this

> decision ?

> ?	Conditioning Regimen: RIC versus myeloablative

> ?	Should we transplant him now or wait for a molecular diagnosis

> before BMT ?

>

>


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