Background and Aims

Some patients with severe combined immunodeficiency may have normal T-cell counts with a severe immune-cell

activation defect in complex signaling that regulates transcriptional programs. The nuclear factor κB (NF-κB) pathway plays a role in

inflammatory and immune responses, cell adhesion, and protection against apoptosis. NF-κB pathway activation requires degradation

of the NF-κB inhibitor (IκB) proteins initiated by their phosphorylation by the IκB kinase (IKK) complex consisting of two active

kinases, IKKα and IKKβ. The IκB kinase (IKK) complex links these transcription factors to immune receptors. Several primary

immunodeficiencies in humans are caused by an impaired IKK–IκB axis. The mutation in IKBKB is characterized by

viral,fungal,bacterial infections that leads to the life-threatening consequences. The patients have

agammaglobulinemia/hypogammaglobulinemia and normal lymphocyte count.

Here, we describe an infant with a severe combined immunodeficiency with homozygous IKBKB mutation because of rarity.

Methods

The 40 day-old girl applied to the hospital with perianal and periumbilical abcesses.
She was the second child from the first generation consanguineous parents. There was history of sibling death.

Results

The investigations revealed that she had WBC:27190 mm3/L, ANC:6150 mm3/L,
ALC:10740 mm3/L, IgG:287 mg/dl, IgA:6.2 mg/dl, IgM:17.4 mg/dl, IgE:17.7 IU/ml , CD4:55.6% ,
CD8:29.7%, CD3: 83.8%, CD16+56:6.3%, CD19:7.1%, CD45:99.9%, CD11/CD18:98%. The homozygous missense
c.965_967delTCC;p.IIe322_His323delins Asn variant in IKKβ gene was identified. Although she was administrated
intensive antibiotic and immunoglobulin, she died at 5 th month of age because of septic shock.

Conclusions

The case report is first for presentation of SCID with normal ALC

agammaglobulinemia and the mutation in IKBKB gene in the literature.