Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients by Monia Ouederni, Quentin.

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Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients by Monia Ouederni, Quentin B. Vincent, Pierre Frange, Fabien Touzot, Sami Scerra, Mohamed Bejaoui, Aziz Bousfiha, Yves Levy, Barbara Lisowska-Grospierre, Danielle Canioni, Julie Bruneau, Marianne Debré, Stéphane Blanche, Laurent Abel, Jean-Laurent Casanova, Alain Fischer, and Capucine Picard Blood Volume 118(19):5108-5118 November 10, 2011 ©2011 by American Society of Hematology

Genetic analysis. Genetic analysis. (A) RFXANK mutation. Normal nucleotide sequence of the intron 5/exon 6 boundary of the RFXANK gene and the sequence from a patient with the homozygous 26-bp deletion I5E6-25_I5E6 + 1 (also known as 752delG-25). (B) Haplotype common to 24 unrelated patients with the homozygous 26-bp deletion in the RFXANK gene. An analysis of SNP Array 250 K data showed that patients carrying the I5E6-25_I5E6 + 1 deletion had a common homozygous haplotype around the RFXANK locus. Monia Ouederni et al. Blood 2011;118:5108-5118 ©2011 by American Society of Hematology

T-cell immunophenotyping of the 35 patients. T-cell immunophenotyping of the 35 patients. (A) CD4+ T-cell count in patients; the gray area indicates normal values as a function of age.44 (B) CD8+ T-cell count in patients; the gray area indicates normal values as a function of age.44 Monia Ouederni et al. Blood 2011;118:5108-5118 ©2011 by American Society of Hematology

Histologic features of the rectal mucosa. Histologic features of the rectal mucosa. (A) Rectal biopsy of patient P26 showing very mild lamina propria infiltration by lymphocytes and macrophages. (B) No MHC class II expression on inflammatory and epithelial cells. (C) Rectal biopsy of patient P14 revealing moderate lamina propria infiltration by lymphocytes, eosinophils, macrophages, and plasma cells. (D) Absence of MHC class II expression on inflammatory and epithelial cells. Only eosinophils are stained because of endogenous peroxidase activity. (E) Normal histologic appearance of a control rectal biopsy. (F) Normal expression of MHC class II on lamina propria cells in a rectal biopsy. Monia Ouederni et al. Blood 2011;118:5108-5118 ©2011 by American Society of Hematology

Survival curves (Kaplan-Meier). Survival curves (Kaplan-Meier). (A) Survival curve for patients who underwent HSCT. (B) Survival curve for patients who did not undergo HSCT. Monia Ouederni et al. Blood 2011;118:5108-5118 ©2011 by American Society of Hematology