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. Author manuscript; available in PMC: 2016 Feb 12.
Published in final edited form as: Cell. 2015 Feb 5;160(4):686–699. doi: 10.1016/j.cell.2015.01.014

Figure 1. Long-term clinical remission of WHIM syndrome and evidence for somatic mosaicism in patient WHIM-09.

Figure 1

(A) Family Pedigree. Squares, males; circles, females; shaded symbols, WHIM syndrome; arrow, index patient WHIM-09.

(B) Spontaneous and complete remission of warts in patient WHIM-09. According to patient WHIM-09, through her fourth decade of life she had had extensive warts on her hands, similar to her daughters, (illustrated here for 24 year old daughter WHIM-11) that spontaneously resolved.

(C) Spontaneous sustained correction of neutropenia and monocytopenia in patient WHIM-09. WBC, white blood cell count; ANC, absolute neutrophil count; AMC, absolute monocyte count; ALC, absolute lymphocyte count. Arrows indicate age at splenectomy; horizontal lines indicate normal range for each cell type. Note, × axis is discontinuous to show pre/post splenectomy results more clearly.

(D) Normalization of bone marrow pathology in patient WHIM-09. A representative high magnification (500×) Wright-Giemsa stain of the bone marrow aspirate is shown for the index patient WHIM-09 in 1963 (Zuelzer, 1964) (reproduced with permission) and in 2013 at ages 9 and 59, respectively. Arrows in left image, eyeglass nuclei in neutrophils. (E) Polymerase chain reaction-BstUI restriction fragment length polymorphism (BstUI) analysis of genomic DNA. HD, healthy donor; WHIM-09, index patient; Cheek, cheek swab cells; PBMC, peripheral blood mononuclear cells; Fb, fibroblast; LCL, lymphoblastoid cell line; WB, whole blood; WT, wild-type allele; WHIM, CXCR4R334X allele that causes WHIM syndrome. (F) Sanger DNA sequencing analysis of whole blood DNA for affected family members in the region near nucleotide position 1000 (vertical line), the site of WHIM mutation CXCR4R334X (1000 C→T). Blue, C; Red, T; Fb, fibroblast; PMN, polymorphonuclear leukocyte (PMN). (G) Sanger DNA sequencing analysis of DNA from purified peripheral blood neutrophils, cells obtained from a buccal swab (cheek) and cultured skin fibroblasts for patient WHIM-09 in the same region as (F).