Table 1.

Genetic, demographic, weight and height, and clinical spectrum of patients with AR CD4 deficiency

									Weight and height
Patient/Kindred	Mutation	Origin	Gender (F/M)	Year of birth	Follow-up	Age at onset of symptoms	Clinical infectious phenotype (infections, microbiology, pathology results) Current treatment prophylaxis	Detection of auto-antibodies/age	Age (yr)	Weight (kg) [Z score]	Height (cm) [Z score]	BMI (kg/m2)
P1/A	c.491delA/491delA p.Q164fs197*/Q164fs197*	Colombia	F	2003	Alive	2 mo	BCG-vaccine: No AE Other alive vaccine: MMR, YFV without AE Failure to thrive, diarrhea Multiple pneumonia, chronic sinusitis, otitis Endophtalmitis, iridocyclitis Urinary tract infection Varicella without complications 3C syndromeb Prophylaxis: Ig and ATB	N.D.	0 3 5 6.5 7 8.6 9.2 13 15 16	2.44 (−1) 11 (−1) 14 (−2) 17 (−1) 18 (−1) 15 (>−2) 18 (−2) 38 (−2) 38.5 42	48 (−2) 86 (>−2) 95 (>−2) 102 (>−2) 104 (>−2) 109 (>−2) 112 (>−2) 116 (>−2) 141 141	ND ND ND ND ND ND ND ND 19.5 (normal) 21.1 (normal)
P2/B P3/B	c.245C>G/245C>G p.S82*/S82* c.245C>G/245C>G p.S82*/S82*	Portugala Portugal	M M	1962 1966	Alive Alive	49 yr 10 yr	BCG vaccine: No AE Other alive vaccine: None At 49 yo: Colon polyps with dysplasia At 52 yo: Diagnosis of classic Whipple’s disease (diarrhea, abdominal pain, arthritis). T. whipplei (+) in culture and PCR saliva, stool, and synovial fluid, PAS(+). Treatment: Hydroxychloroquine and doxycycline Oral labial herpes Warts Prophylaxis: None BCG vaccine: No AE Other alive vaccine: None At 10 yo: Pulmonary tuberculosis At 20 yo: Laryngeal tuberculosis At 46 yo: Dental abscess requiring surgical drainage Hiatal hernia and erythematous gastritis Since adolescence: Multiple non-pruritic verrucous skin lesions (by HPV3+) and genital warts (by HPV31). Treatment: Isotretinoin with good response Prophylaxis: None	At 52 yo: ANA (−) ANCA (−) Anti-dsDNA (−) Anti SS-B (−) Anti-J01 (−) Anti-RNP (−) Anti-Scl70 (−) Anti-smith (−) Anti-SSA (−) At 50 yo: ANA (−) ANCA (−) Anti-dsDNA (−) Anti SS-B (−) Anti-RNP (−) Anti-smith (−) Anti-SSA (−)	61 57	90 70	163 175	33.9 (obesity) 22.9 (normal)
P4/C P5/C	c.235C>T/235C>T p.R79C/R79C c.235C>T/235C>T p.R79C/R79C	Palestinian Palestinian	F F	2018 2000	Alive Alive	2 mo N.A.	BCG-vaccine: BCG-itis at 3 mo Failure to thrive Recurrent pulmonary infections without microbe isolation, requiring hospitalizations Cryptosporidiosis infection and oral candidiasis Prophylaxis: Fluconazole and TMP/SMX	N.D.	0 1 6 23	3.2 (0) 10 (0) 17 (−1) 51	ND ND ND ND	ND ND ND ND
P6/D	c.1A>G/1A>G Predicted p.M1V/M1V	White American	F	1997	Alive		BCG vaccine: No AE Other alive vaccine: MMR, polio IPV/OPV, varicella zoster (Varivax) without AE Respiratory syncytial virus pneumonia requiring inpatient admission (1 mo old) -At 1 yo: Rotavirus gastroenteritis -At 5–6 yo: Diagnosis of attention deficit hyperactivity disorder and currently managed with lisdexamfetamine -Until 4–5 yo: Recurrent otitis media requiring myringotomy tubes (nine procedures) in childhood (six episodes per yr until age 4–5) -Recurrent episodes of upper respiratory infection with productive cough (4–5 episodes per yr): empiric course of antimicrobials, tonsillectomy, and adenoidectomy. -Multiple episodes of transient cervical lymphadenopathy during childhood. -At 5–6 yo: Onset of multiple skin warts recalcitrant to topical treatment, cryotherapy, and surgical excision. Spontaneously resolved around age 18–19. -At 6 yo: Varicella despite receiving first dose of varicella vaccine at age 1 -At 15 yo: Recurrent episodes of back pain with imaging significant for intervertebral herniations in the lower thoracic spine -At 22 yo: Acute presentation with multifocal pneumonia and hypoxic respiratory failure requiring mechanical ventilatory support. A nasopharyngeal molecular assay tested positive for rhino-virus and enterovirus.	Anti β2-glycoprotein 1 AB panel (IgG and IgM) (−) Anti-thyroglobulin (−) Thyroid peroxidase AB (−) Anti-proteinase 3 (−) Anti-MPO (−) Anti-dsDNA (−) ANA (−) anti-ENA (−) ACA IgG and IgM (−) Rheumatoid factor (−) Anti-CCP (−)	22 25	107.4 111	168.8 169	37.6 (obesity) 38.9 (obesity)
P7/E	c.1157-1G>A/1157-1G>A p.V386_R426delfs*13 and p.V386_Q395delfs*45	Portugal	F	1974	Alive	10 yr	Exuberant and disfiguring warts in both feet and hands. Warts were refractory to treatment with keratolytic agents, cryosurgery, and excision, with minor improvement after treatment with acitretin in association with topical 50% urea cream. Past medical history of measles and mumps during her infancy and varicella infection during her first pregnancy, which all resolved without complications Allergic rhino-conjunctivitis treated with cetirizine and fluticasone, and chronic polyarthralgias in the absence of impaired functionality HIV 1/2 (−), HTLV-1 (−), syphilis (−)	Anti-neutrophil (−) Anti-ds-DNA (−)	49	64	150	28.44 (overweight)

Mutations, patient numbers, and family numbers are as in Fig. 1. Consanguinity, patient origin, sex, current vital status, age at onset of symptoms, and clinical phenotype are shown. AE: adverse effect, ATB: antibiotics, BB-B: complement factor B, ANCA: anti-neutrophils cytoplasmic autoantibody, dsDNA: double-stranded (ds, native) DNA, ANA: antinuclear antibodies, PAS: periodic acid-Schiff, MMR: measles-mumps-rubella, YFV: yellow fever vaccine, ND: not determined; BMI: body mass index, TMP: trimethoprim, SMX: sulfamethoxazole.

^aP2 lives in France.

^bClinical manifestations are mild cardiac abnormalities, interatrial (IAC) and interventricular communication (IVC), absent cerebellar vermis, congenital glaucoma with megalocornea, facial dysmorphism, and mild mental retardation.