[CIS PIDD] [cis-pidd] SCID genetic diagnosis?
CIS-PIDD
cis-pidd at lists.clinimmsoc.org
Tue Aug 23 10:41:53 EDT 2016
Dear All,
I need help with a diagnostic dilemma.
An 8 month old female born 36 weeks to consanguineous parents. Pregnancy was complicated by hydrops and cardiac ventricular hypertrophy. She has a history of pulmonary valve stenosis, dysmorphic facies, failure to thrive and chronic diarrhea. At 6.5 months of age, she presented in respiratory failure, bronchoscopy showed Pneumocystis jirovecii, rhinovirus, parainfluenza virus. She completed treatment with IV Bactrim and steroids. She had severe CD3T cell lymphopenia, agammaglobulinemia, and family history of sibling who died of pneumonia at 6 months of age, and the working diagnosis was SCID. An extensive infectious disease evaluation (CMV, rotavirus, adenovirus, enterovirus, others) was negative.
Other past medical history included anemia at birth requiring 2 blood transfusions, cardiomyopathy, hepatomegaly. Amniocentesis showed normal chromosomes. Microarray showed multiple extensive regions of homozygosity consistent with consanguinity.
LAB EVALUATION AT PRESENTATION
WBC 4,000
ANC 2,700
ALC 360
CD3T 102
CD4T 63
CD8T 3
CD4/CD8 21.0
CD56/16 72
CD19 179
IgG <170
IgA <2
IgM <20
TREC < 5 copies
T cell stimulation: attempted twice, sample insufficient
Genetic Testing: Comprehensive SCID panel (46 genes by sequencing only; del/dup not done) to Baylor was negative (ADA, AK2, AP3B1, CASP8, CD3D, CD3E, CD3G, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, FOXP3, IKZF1, IL2RG, IL7R, ITK, JAK3, LCK, LIG4, LYST, NHEJ1, ORAI1, PNP, PRF1, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SH2D1A, STAT5B, STIM1, STX11, STXBP2, TAP1, TBX1, TTC7A, UNC13D, XIAP, ZAP70)
HIV PCR - negative
ADA and PNP levels on RBC normal, but done 1 week after blood transfusion
INTERVAL HISTORY
At 7.5 months of age, the WBC steadily declined from 7, 100 to 1, 500, and hemoglobin declined from 13.3 to 8.0. Platelets are normal
ANC 1,100
ALC 300
CD3T 171
CD4T 126
CD8T 8
CD4/CD8 15.8
CD19B 48
CD56/16 67
Bone marrow biopsy showed cellular marrow with relative erythroid hyperplasia and mildly megaloblastic erythroid maturation. Normal numbers of megakaryocytes with frequent hypoblate nuclear morphology. Increased storage iron present, scattered erythroid ring forms seen.
Thoughts regarding a genetic diagnosis?
Conditioning regimen for bone marrow transplantation?
Plan is to send Whole Exome Sequencing. Any thoughts would be greatly appreciated.
Thank you,
Niraj
Niraj Patel, MD, MS
Pediatric Infectious Disease and Immunology
Levine Children's Hospital
Carolinas Medical Center
Charlotte, NC. USA
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