[CIS PIDD] 8 mo with neutropenia and hypogamm

[Patel, Niraj C]

Any thoughts would be appreciated, and keep in mind the following questions:
1) Should I be concerned for WHIM syndrome and if so, who can help with testing?
2) Concerns for other causes of neutropenia? Cyclic neutropenia, severe neutropenia, others?

8 mo old male with maternal history of neurofibromatosis who was born full term.  His problems include:
-Scope of his airways due to noisy breathing at age 3 days was normal.
-2-3 episodes of oral thrush at day 11.
-Diagnosed subsequently with 8 urinary tract infections (no documented records yet). 2 renal ultrasounds normal, no VCUG done.
-Circumcision at 6 months was complicated by cellulitis.
-Neutropenia since one month of age (ANC 800), now 500 at 8 mo
-More than 4 ear infections, one tonsillitis, one pharyngitis, 3 episodes of bronchiolitis
- mouth ulcers by history
Fam Hx: paternal uncle (age 21) with similar history of chronic neutropenia (as child and currently), chronic sinusitis, no antibody response to vaccines, status post 3 bone marrows (all reportedly normal, awaiting records) and did NOT suffer from viral infections including warts; father with crohn's and ankylosing spondylitis, paternal grandmother with lupus

He has reflux. His cord fell of at 2-3 weeks of age. No pneumonias, meningitis, sepsis. No abscesses. He is unvaccinated.

Laboratories (evaluation at 8 mo of age unless otherwise specified):
ANC since 2 mo of age range 500-1,240. He had one neutrophil count at 3 mo = 2070.
IgG 231, IgA 15, IgM 18, IgE 18
Isohemaglutinins: anti A1 IgM: 16, IgG 16; anti A2 IgM; 4, IgG 4
Complement: 55
WBC 6.5,  ALC 4,576,  CD3T: 3,295, CD4T: 2105  CD8T: 1007 CD16/56, CD19B : 1007
Hgb 12.4, MCV 81 ; Plt 311 MPV 7.4
Lymphocyte proliferation to mitogens normal
Bone Marrow: mature neutrophils seen (13%), no myelodysplasia
Neutrophil antibody negative
Chromsomes negative
Sweat chloride normal
Neutrophil elastase pending


Thank you,
Niraj
Niraj Patel, MD MS

Department of Pediatrics
Infectious Diseases and Immunology

Levine Children's Hospital
Carolinas Medical Center
PO Box 32861
Charlotte, NC 28232-2861

Email: niraj.patel at carolinashealthcare.org<mailto:niraj.patel at carolinashealthcare.org>


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