case_images: PMC10547563_01
case_images: Familial pedigree of (A) family 1 and (C) family 2 depicting the clinical presentation timeline of (B) P1, P2, and (D) P3.
case_images: fimmu-14-1194262-g001.jpg
case_images: PMC10547563_03_fimmu-14-1194262-g001.jpg
case_images: f1
case_images: Patient 3 (P3) ( Figures 1C, D ) was a male child born in September 2015 as the second twin of a second pregnancy of non-consanguineous parents (both from Jalisco).
case_images: Initial clinical presentation of the patients. In family 1 with c.607G>C (p.Gly203Arg) mutation, (A) P1 with a necrotic lesion located in the right nostril and (B) P2 with omphalitis; in family 2 with novel mutation c.416C>G (p.Pro139Arg), (C) P3 with oral aphthous ulceration. (D) Ubication of the abovementioned ELANE mutations in exons 5 and 4, respectively.
case_images: fimmu-14-1194262-g002.jpg
case_images: PMC10547563_03_fimmu-14-1194262-g002.jpg
case_images: f2
case_images: Four years later, P3 developed intermittent fever accompanied by monthly oral aphthous ulceration and was rehospitalized ( Figure 2C ). Forkhead box N1 [FOXN1 (c.724C>T, p.Pro242Ser)], and SKI2 subunit of superkiller complex [SKIV2L (c.2165G>A, p.Arg722Gln)]. Furthermore, a novel pathogenic variant, c.416C>G (p.Pro139Arg) ( Figure 2D ), in ELANE was found.
case_images: Follow-up neutrophil counts for 365 days of P1, P2, and P3.
case_images: fimmu-14-1194262-g003.jpg
case_images: PMC10547563_03_fimmu-14-1194262-g003.jpg
case_images: f3
case_images: Neutropenia persisted from November 2021 until August 2022, as diagnosed in serial blood counts performed twice per week during April and May ( Figure 3 ), which also showed normal lymphocyte subpopulation counts and Ig levels.
case_images: PMC10547563_02
case_images: Familial pedigree of (A) family 1 and (C) family 2 depicting the clinical presentation timeline of (B) P1, P2, and (D) P3.
case_images: fimmu-14-1194262-g001.jpg
case_images: PMC10547563_03_fimmu-14-1194262-g001.jpg
case_images: f1
case_images: Patient 3 (P3) ( Figures 1C, D ) was a male child born in September 2015 as the second twin of a second pregnancy of non-consanguineous parents (both from Jalisco).
case_images: Initial clinical presentation of the patients. In family 1 with c.607G>C (p.Gly203Arg) mutation, (A) P1 with a necrotic lesion located in the right nostril and (B) P2 with omphalitis; in family 2 with novel mutation c.416C>G (p.Pro139Arg), (C) P3 with oral aphthous ulceration. (D) Ubication of the abovementioned ELANE mutations in exons 5 and 4, respectively.
case_images: fimmu-14-1194262-g002.jpg
case_images: PMC10547563_03_fimmu-14-1194262-g002.jpg
case_images: f2
case_images: Four years later, P3 developed intermittent fever accompanied by monthly oral aphthous ulceration and was rehospitalized ( Figure 2C ). Forkhead box N1 [FOXN1 (c.724C>T, p.Pro242Ser)], and SKI2 subunit of superkiller complex [SKIV2L (c.2165G>A, p.Arg722Gln)]. Furthermore, a novel pathogenic variant, c.416C>G (p.Pro139Arg) ( Figure 2D ), in ELANE was found.
case_images: Follow-up neutrophil counts for 365 days of P1, P2, and P3.
case_images: fimmu-14-1194262-g003.jpg
case_images: PMC10547563_03_fimmu-14-1194262-g003.jpg
case_images: f3
case_images: Neutropenia persisted from November 2021 until August 2022, as diagnosed in serial blood counts performed twice per week during April and May ( Figure 3 ), which also showed normal lymphocyte subpopulation counts and Ig levels.
case_images: PMC10547563_03
case_images: Familial pedigree of (A) family 1 and (C) family 2 depicting the clinical presentation timeline of (B) P1, P2, and (D) P3.
case_images: fimmu-14-1194262-g001.jpg
case_images: PMC10547563_03_fimmu-14-1194262-g001.jpg
case_images: f1
case_images: Patient 3 (P3) ( Figures 1C, D ) was a male child born in September 2015 as the second twin of a second pregnancy of non-consanguineous parents (both from Jalisco).
case_images: Initial clinical presentation of the patients. In family 1 with c.607G>C (p.Gly203Arg) mutation, (A) P1 with a necrotic lesion located in the right nostril and (B) P2 with omphalitis; in family 2 with novel mutation c.416C>G (p.Pro139Arg), (C) P3 with oral aphthous ulceration. (D) Ubication of the abovementioned ELANE mutations in exons 5 and 4, respectively.
case_images: fimmu-14-1194262-g002.jpg
case_images: PMC10547563_03_fimmu-14-1194262-g002.jpg
case_images: f2
case_images: Four years later, P3 developed intermittent fever accompanied by monthly oral aphthous ulceration and was rehospitalized ( Figure 2C ). Forkhead box N1 [FOXN1 (c.724C>T, p.Pro242Ser)], and SKI2 subunit of superkiller complex [SKIV2L (c.2165G>A, p.Arg722Gln)]. Furthermore, a novel pathogenic variant, c.416C>G (p.Pro139Arg) ( Figure 2D ), in ELANE was found.
case_images: Follow-up neutrophil counts for 365 days of P1, P2, and P3.
case_images: fimmu-14-1194262-g003.jpg
case_images: PMC10547563_03_fimmu-14-1194262-g003.jpg
case_images: f3
case_images: Neutropenia persisted from November 2021 until August 2022, as diagnosed in serial blood counts performed twice per week during April and May ( Figure 3 ), which also showed normal lymphocyte subpopulation counts and Ig levels.