Summary of three clinical vignettes exemplifying real-world cases of patients with DS and immunodeficiency, autoimmunity, and autoinflammation, respectively
| Patient age . | Other past medical history . | Presenting issue . | Laboratory and clinical findings . | Diagnosis . | Recommended treatment . |
|---|---|---|---|---|---|
| Case #1 6-year-old male with DS | Congenital heart disease | Recurrent infections (otitis media, croup, pneumonia, pharyngeal abscess, folliculitis, and conjunctivitis) | Mild hypogammaglobulinemia (IgM 18 mg/dl; IgG 499 mg/dl; IgA 42 mg/dl; IgE 3 mg/dl); CD19 and CD8 lymphopenia; reduced class-switched memory B cells; absent pneumococcal, measles, mumps, rubella, varicella, and hepatitis B titers despite boosters; preserved tetanus and diphtheria titers | Specific antibody deficiency | Immunoglobulin replacement therapy |
| Case #2 25-year-old male with DS | N/A | Poor oral intake and dysphagia; anorexia and 50-lb unintentional weight loss; gait instability, cognitive slowing, social withdrawal, and fatigue | Imaging consistent with sialadenitis; autoimmune hypothyroidism and primary adrenal insufficiency; brain MRI showing mild ventriculomegaly, cerebellar hypoplasia, and basal-ganglia mineralization; normal Alzheimer’s biomarkers and vitamin B12 | DSRD | Levothyroxine and corticosteroids; considering benzodiazepines, immunoglobulin, and JAK inhibition |
| Case #3 16-year-old female with DS | Hypothyroidism, obstructive sleep apnea, eruptive syringomas, seborrheic dermatitis, papular eczema, and alopecia areata | Progressive, treatment-refractory hidradenitis suppurativa with painful axillary abscesses requiring hospitalization | Persistent severe hidradenitis suppurativa flares despite adalimumab therapy, prolonged doxycycline, and multiple intralesional triamcinolone injections; required intravenous antibiotics and high-dose corticosteroids | Hidradenitis suppurativa in the context of DS-associated cutaneous inflammation | Transition from adalimumab to secukinumab |
| Patient age . | Other past medical history . | Presenting issue . | Laboratory and clinical findings . | Diagnosis . | Recommended treatment . |
|---|---|---|---|---|---|
| Case #1 6-year-old male with DS | Congenital heart disease | Recurrent infections (otitis media, croup, pneumonia, pharyngeal abscess, folliculitis, and conjunctivitis) | Mild hypogammaglobulinemia (IgM 18 mg/dl; IgG 499 mg/dl; IgA 42 mg/dl; IgE 3 mg/dl); CD19 and CD8 lymphopenia; reduced class-switched memory B cells; absent pneumococcal, measles, mumps, rubella, varicella, and hepatitis B titers despite boosters; preserved tetanus and diphtheria titers | Specific antibody deficiency | Immunoglobulin replacement therapy |
| Case #2 25-year-old male with DS | N/A | Poor oral intake and dysphagia; anorexia and 50-lb unintentional weight loss; gait instability, cognitive slowing, social withdrawal, and fatigue | Imaging consistent with sialadenitis; autoimmune hypothyroidism and primary adrenal insufficiency; brain MRI showing mild ventriculomegaly, cerebellar hypoplasia, and basal-ganglia mineralization; normal Alzheimer’s biomarkers and vitamin B12 | DSRD | Levothyroxine and corticosteroids; considering benzodiazepines, immunoglobulin, and JAK inhibition |
| Case #3 16-year-old female with DS | Hypothyroidism, obstructive sleep apnea, eruptive syringomas, seborrheic dermatitis, papular eczema, and alopecia areata | Progressive, treatment-refractory hidradenitis suppurativa with painful axillary abscesses requiring hospitalization | Persistent severe hidradenitis suppurativa flares despite adalimumab therapy, prolonged doxycycline, and multiple intralesional triamcinolone injections; required intravenous antibiotics and high-dose corticosteroids | Hidradenitis suppurativa in the context of DS-associated cutaneous inflammation | Transition from adalimumab to secukinumab |