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A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4-Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma

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J Investig Allergol Clin Immunol 2018; Vol. 28(4) © 2018 Esmon Publicidad doi: 10.18176/jiaci.0261

Table 1. Evaluation of the laboratory parameters of cases

Laboratory parameter Case 1 Case 2

WBC (/mm3) 9820 (4000- 10000) 11900 (4000- 10000) Hb (g/dl) 9.6 (11-17.2) 11.4 (11-17.2) PLT (/mm3) 340000 (150000- 400000) 589000 (150000- 400000) ANC (/mm3) 5500 (1500-7300) 6902 (1500-7300) ALC (/mm3) 3900 (3200-10800) 4640 (1500-5200) AEC (/mm3) 196 (200-500) 238 (200-500) ESR (mm/h) 123 (0-20) 66 (0-20) C-RP (mg/L) 169 (0-5) 150 (0-5) IgE (IU/ml) 17(<100) 1084-55 (<100) IgG (mg/dl) 1020 (280-666) 1830 (613-1030) IgM (mg/dl) 252 (19-94) 146 (58-126) IgA (mg/dl) 28 (5-39) 55 (26-80) AntiHBs (mIU/mL) 223 (>10) 100 (>10)

Anti-B (isohemaglutinin titer) Not tested Anti-A: 1/64, Anti-B: 1/4 (<1/10)

Mumps IgG Not tested 5 (0-1.1)

Varicella virus IgG (IU/ml) Not tested 23.6 (<9)

Procalcitonin (ng/mL) 37.2 (<0.5) Not tested

CD3+T (%) 60 (51-79) 74 (58-82) CD3+CD4+T (%) 42 (31-54) 42 (26-48) CD3+CD8+T (%) 18 (10-31) 28 (16-32) CD45RA (%) 86 (72-93) 57(66-95) CD45RO (%) 3 (9-31) 30 (14-44) CD19+B (%) 29 (14-44) 1-14 (10-30) CD16+56 (%) 6 (5-23) 4

CD25 activation Normal Normal

Neutrophill functions Normal (DHR) Normal (NBT)

IL-6 response after stimulation with LPS or IL-1b

defective defective

Microorganisms detected Rotavirus (stool),

P. aeruginosa (CSF) Yeast (urine)

C. albicans (throat),

Salmonella C1(stool and blood), Enterococcus faecalis (urine), Staph. Hominis (blood)

Mutation Missense mutation in exon 3 of IRAK4 gene

(c.161G>A, p.R54K, at protein level)

Missense mutation in exon 3 of IRAK4 gene (c.161G>A, p.R54K, at protein level)

WBC: White blood cell, Hb: hemoglobin, PLT: Platelet, ANC: Absolute neutrophill count, ALC: Absolute lymphocyte count, AEC: Absolute eosinophil count, ESR: Eryhthrocyte sedimentation rate, C-RP: C reactive protein, CD25 activation: CD25 activation of T cells after stimulation with PHA, Neutrophill functions: Chemotaxis, phagocytosis and burst functions of neutrophills, CD62L: CD62 ligand, DHR: Dihydrorhodamine (DHR) Flow Cytometric Assay, NBT: Nitroblue tetrazolium test

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Table 1. Evaluation of the laboratory parameters of cases

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