681 T Lymphocyte Profile in Schwachman Diamond Syndrome

R. Sullivan, N. Y. Olson; Pediatrics, University of Kansas, Kansas City,

KS.

RATIONALE: We report T lymphocyte abnormalities in a patient with

cyclic neutropenia and pancreatic dysfunction as part of Schwachman

Diamond Syndrome.

METHODS: This is a 5.5 month old male who presented to our clinic

with symptoms of monthly fevers, diarrhea, emesis, abdominal pain, gas,

rash, and thrush.

RESULTS: His initial laboratory evaluation included WBC 9.6, neu-

trophils 16% (ANC 1500), lymphocytes 74%, monocytes 6%, eosinophils

4%, IgA 14mg/dl, amylase 198u/L, lipase normal, liver function normal.

Weekly CBCs initially and again at 17 months of age demonstrated 36 day

neutropenia cycles. ImmunoCAP RAST to egg -class 3, milk and wheat-

class 2 were noted however the patient’s diet was already restricted (breast

milk, elemental formula). Laboratory studies IgG, IgM, and IgG sub-

classes normal, IgA repeat at19 months normal, amylase measurements

all elevated. Mitogens (PHA, ConA, PWM) done by 3H-thymidine incor-

poration were normal.

T lymphocyte subsets: ...Age 10 months .............19 months

...% (absolute count) ........% (absolute count)

...CD3 66.4% (3144)...... 57.6% (2448)

...CD4 48.4% (2143) ......42.6% (1787)

...CD8 16.5% (733) .......13% (545)

...CD19 21.4% (1078) ....35.8% (1542)

...CD16/56 9.7% (487) ...2.6% (127)CONCLUSIONS: Pancytopenias in Schwachman Diamond patients may

as in this patient be selective and should be further studied. In animal

models of pancreatitis pancreatic infiltration with CD8 positive cells has

been demonstrated and may provide a partial explanation for the low CD8

count in this case. As leukemia may develop in Schwachman Diamond

patients if predictors such as a low CD16/56 can be identified this would

be clinically important.

682 An Unusual Immunoglobulin Profile in an Adult Patient

R. Ayuso; Allergy and Clinical Immunology, Mount Sinai Medical

Center, NY, NY.

A 49-year-old patient was evaluated for recurrent laryngitis, sinusitis and

bronchitis throughout his life and two pneumonias in the last two years.

He was an athletic man with an unremarkable physical examination.

Immunological evaluation showed IgG 1760 mg/dL, IgA 24 mg/dL, IgM

21 mg/dL, IgG1 1400 mg/dL, IgG2 29 mg/dL, IgG3 12 mg/dL, and IgG4

1mg/dL. Specific antibodies to pneumococcal serotypes were non-protec-

tive for 12/12 serotypes pre and post immunization. Antibody titers to

Haemophilus influenza were non-protective, but protective for tetanus,

diphtheria, varicella, mumps and rubella. HIV testing was negative. A

CBC was normal. Lymphocyte evaluation showed mildly decreased num-

bers of B cells and T cells with a normal CD4/CD8 ratio. A random urine

protein and immunofixation in urine for light chains, lambda and kappa

were negative. However, a serum protein electrophoresis demonstrated a

IgG lambda monoclonal paraprotein. A bone marrow biopsy was positive

for multiple myeloma with 35% plasma cells.

CONCLUSIONS: this patient presents with an unusual immunoglobulin

profile with low IgA, IgM, and IgG subclases except normal IgG1, who

presented with recurrent infections for evaluation of immunodeficiency.

The suspected immunodeficiency was the key to the ultimate diagnosis of

multiple myeloma, which was still asymptomatic at that stage. Extreme

skewing of IgG subclasses found in the context of recurrent infections and

antibody deficiency is an unusual presentation of multiple myeloma but

this possibility should be considered in adult patients presenting for

immunological evaluation.

683 Ulcerative Colitis in a Pediatric Patient with IgA Deficiency

A. Kounavis1, T. B. Fausnight2; 1Pediatrics, Penn State Children’s Hos-

pital, Hershey, PA, 2Pediatric Asthma and Immunology, Penn State Chil-

dren’s Hospital, Hershey, PA.

RATIONALE: Ulcerative colitis is an inflammatory bowel disease (IBD)

and is uncommon in the pediatric age group, with an incidence of 2 cases

per 100,000 children. Immunodeficency has been partially implicated in

the pathogenesis of IBD, and the association of IgA deficiency with IBD

has been reported. Celiac disease is more common in pediatric patients

and an association with IgA deficiency is well established.

METHODS: A literature review of PubMed for IgA deficiency, IBD, and

ulcerative colitis was performed. We describe a 13 year-old female with

ulcerative colitis and IgA deficiency who presented for evaluation of

chronic diarrhea.

RESULTS: IgA deficiency in pediatric patients with inflammatory bowel

disease has been reported in the literature. Our patient presented with a

several year history of diarrhea thought to be due to food allergy. She also

had two cousins with celiac disease. Studies for celiac disease demon-

strated an elevated anti-gliaden IgG level and low total IgA level. RAST

and skin testing for foods was negative. ESR was elevated (48). She was

mildly anemic but her cell counts were otherwise normal. Stool studies for

ova and parasites and Giardia antigen were negative. She was subse-

quently referred to gastroenterology. Upper endoscopy was negative for

celiac disease. A colon biopsy was consistent with ulcerative colitis.

CONCLUSIONS: IgA deficiency is frequently associated with celiac

disease but may also be observed in IBD. Though uncommon, the diag-

nosis of IBD should be considered when evaluating IgA deficient children

with gastrointestinal symptoms and a negative food allergy and infectious

disease work-up.

Funding: Penn State Children’s Hospital

684 Skeletal Abnormalities Associated with DiGeorge Syndrome:Report of an Unusual Case

S. J. Khiani1, J. A. Kleinfeld2, K. J. Khiani3, A. T. Gewurz2; 1Immunology/

Microbiology (RUMC) & Pediatrics (SHCC), Rush University Medical

Center-Stroger Hospital of Cook County A/I Program, Chicago, IL,2Immunology/Microbiology (RUMC) & Pediatrics (SHCC)), Rush Uni-

versity Medical Center-Stroger Hospital of Cook County A/I Program,

Chicago, IL, 3Radiology, Geisinger Medical Center, Danville, PA.

INTRODUCTION: Skeletal abnormalities have been demonstrated in

several primary immunodeficiency disorders, but are not considered char-

acteristic of DiGeorge syndrome (DGS). We describe a case of DGS pre-

senting with extensive bone defects and discuss the possible significance

of this association.

CASE REPORT AND LITERATURE REVIEW: A male infant was

delivered at 36 weeks gestation with truncus arteriosus, hypocalcemia,

lymphopenia and thymus hypoplasia, diagnosed as DGS, to a 24yo

G2P001 hypothyroid, diabetic, smoking mother. Genetic analysis showed

46XY karyotype and no deletion (by FISH) of the 22q11 or 10p13 loci.

Chest radiograms showed butterfly defects of the T6, T8, and T12 verte-

brae; a small, hypodense T10 vertebral body; an asymmetric L4 vertebra;

mild mid/inferior thoracic levoscoliosis; a hypoplastic left 7th rib, and a

wide gap between the left 7th and 8th ribs. A Medline search conducted

using PubMed and other search engines identified multiple reports during

the past 10 years of axial skeletal and other bone abnormalities associat-

ed with DGS and deletion of 22q11. Mutations of the T-box 1 gene TBX1,

located near or within the 22q11 locus, may be responsible for the bone

defects associated with DGS, as well as the classic DGS phenotype itself,

although other genes may also play a role.

CONCLUSIONS: As illustrated by this case, vertebral and other bone

abnormalities may be a more common and fundamental feature of DGS

than is presently appreciated. This patient may be unique, in that he has

DGS with extensive skeletal anomalies, but no detectable deletion of the

22q11 or 10p13 loci.

Funding: Rush University Medical Center

J ALLERGY CLIN IMMUNOL Abstracts S175VOLUME 117, NUMBER 2

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