Clinical manifestations and genetic features of TAP, tapasin, and β2m deficiency
| Authors, year (reference) . | Age at start of symptom, gender (f, m) . | Manifestations (in chronological order, where data available) . | HLA typea . | Genes affected and type of mutationa . | Country of origin . | |
|---|---|---|---|---|---|---|
| Patients with tap deficiency | ||||||
| Moins-Teisserenc et al. (1999) (27) b | Age 3 (f) | Chronic rhinitis, otitis, sinusitis; from age 11, bronchial infections with pneumonia and bronchiectasis; from age 27, necrotizing granulomatous skin lesions on nose and legs, progression to nasal destruction under immunosuppression; later developed leukocytoclastic vasculitis, nonerosive polyarthritis, retinal vasculitis, and episodic colitis (on one occasion clostridia toxin positive); at age 36, death from pneumonia | Homozygous HLA-A*11, B*15:02, Cw*08:01, DRB1*15, DQB1*06:01 | TAP2 c.1084delA; p.Ser362Valfs* | Turkey | |
| Age <5 (f) (aunt) | Recurrent rhinitis and sinusitis since childhood; nasal septal perforation and mild granulomatous lesions on nasal tip; later developed severe necrotizing granulomatous lesions on lower extremities | Same homozygous haplotype | ||||
| Caversaccio et al. (2008) (28) Moins-Teisserenc et al. (1999) (27) b | Age 4 (f) | Purulent rhinosinusitis, nasal septal perforation, recurrent middle ear effusion, tympanosclerosis, pharyngitis, mastoiditis, bronchitis, and nasal polyps; from age 10, recurrent pneumonias, bronchiectasis; from age 16: necrotizing granulomatous skin lesions on lower extremities, later involving elbows and forearms | Homozygous HLA-A*26:01, B*49:01, C*07:01, DRB1*13:02, DRB3*03:01, DQB1*06:0, DPB1*15:01 | TAP1 c.819delC; p.Ser274Valfs* | Italy. Male patient described in Plebani et al. (29) shared an identical haplotype | |
| Moins-Teisserenc et al. (1999) (27) b | Age <6 (f) (sister) | Recurrent respiratory infections with bronchiectasis; developed first skin lesions at age 22 | Same homozygous haplotype as older sister | |||
| Alemayehu et al. (2023) (30) | Age 3 (m) | From age 3, recurrent pneumonia, gastroenteritis, and tonsillopharyngitis; during infections, developed non-painful skin-colored nodules on extensor limbs | Not stated in article | TAP2 c.373del; p.Gln125Argfs*8 | Ethiopia | |
| Darazam et al. (2023) (31) | Age 26 (f) Age 26–30 (f) (cousin) | Necrotizing granulomatous skin lesions on right foot, later involvement of nose and midface Necrotizing granulomatous lesions on lower limbs with nodules around the nose | Homozygous (details not known) | TAP2 c.983delC; p.Ala328Glyfs*52 | Iran. Three family members with homozygous TAP2 mutations and only minor aphthous ulcers | |
| Espana et al. (2010) (32) | Age 9 (f) | Necrotizing granulomatous skin lesions on both legs; from late childhood, recurrent sinobronchial infections leading to bronchiectasis; at age 39, developed aggressive squamous cell carcinoma within lesional skin; patient died of metastasizing squamous cell carcinoma | Homozygous HLA-A*03:01, Cw*17:01, B*50:01, DRB1*03:01, DQA*05:01/DQB1*02:01, DPB1*04:01 | TAP2 c.628C>T | Spain | |
| Konstantinou et al. (2013) (33) | Age 5 (m) | Recurrent upper and lower respiratory infections; diagnosed with bronchiectasis at age 16; recurrent otitis causing partial bilateral deafness; from age 11, chronic necrotizing granulomatous skin lesions on right lower leg | Not stated in article | TAP2 c.1345C>T; p.Arg449* | Greece | |
| de la Salle et al. (2002) (34) | Age 43 (m) | Chronic granulomatous erythematous and brownish confluent lupoid papules and plaques on one leg; lesion resolved spontaneously 9 mo after completing antituberculosis treatment A 30-year-old sister carried the same homozygous mutation but had no symptoms at time of analysis. Note: Healthy TAP-deficient individuals reported by Markel shared identical HLA haplotype (35) | Homozygous HLA-A*03:01:01, B*07:02:01, Cw*07:02, DRB1*15, DQB1*06 | TAP2 c.1638+1G>A; p.Gly545Alafs* | Lebanon | |
| Dogu et al. (2006) (36) | Age 6 mo | Meningitis at 6 mo; from age 13, scar-forming necrotizing granulomatous lesions in midface, nose, and philtrum; eye surgery at age 13; toxoplasma pneumonitis at age 14; persistently low IgG, IgA, and B cells | Homozygous HLA-A*26, B*38, DRB1*03, DQB1*02 | TAP1 c.1312C>T; p.* | Turkey | |
| Age 17 (f) | Recurrent lower airways infections with subsequent bronchiectasis | Same homozygous haplotype | ||||
| Donato et al. (1995) (37) | Age 4 (f) Age 7 (m) | Recurrent sinobronchial infections, severe bilateral nasal polyposis, and bronchiectasis Recurrent pulmonary infections progressing to bronchiectasis; also had nasal obstruction, pansinusitis, and chronic otitis media | Homozygous HLA-A3, B63, DR4, DR53, DQ3 | TAP2 c.757C>T; p.Arg253* | Morocco | |
| Gao et al. (2016) (38) | Age 4 (f) | Recurrent pneumonia with bronchiectasis; from age 10, ulcerating skin lesions on elbows with human herpes virus (HHV) and EBV positivity; marked improvement following HSCT | Homozygous HLA-A*24:02, B*35:02, Cw*04:01, DRB*03:01, DQB*02:01, DPB*05:01 | TAP1 Homozygous deletion spanning TAP1 exon 3 to exon 11 | Pakistan | |
| Hanalioglu et al. (2017) (39) | Age 4 (f) | Sino bronchial infections resulting in bronchiectasis (age at first symptoms not reported) | Homozygous HLA-A*26, B*38, C*12, DRB1*03, DQB1*03 | TAP1 c.2104_2105insC; p.Gln702Profs*27 | Turkey | |
| Villa-Forte et al. (2008) (40) | 6 mo | Recurrent pneumonia with bronchiectasis by age 6; from age 12, multiple ulcerating granulomatous skin lesions on both legs, initially resolving, later chronic; progressive disease under high-dose glucocorticoids, cyclophosphamide, methotrexate, azathioprine, and infliximab for suspected GPA | Homozygous HLA-A*01, B*08, Cw*07, DRB1*03, DRB3, DQB1*02 | TAP1 c.2239G>A; p.* | Country not stated (Brazilian origin) | |
| Law-Ping-Man et al. (2018) (41) | Age 4 | Ulcerating granulomatous skin lesions on left cheek, gluteal region, and limbs; at age 11, spastic bronchitis with bronchiectasis | Homozygous HLA-A*02:01, B*44:02, C*05:01, DRB1*04:01,DQB1*03:01, DPB1*04:01 | TAP1 c.1879A>T; p.Lys627* | Country not stated (Caucasian origin) | |
| Moins-Teisserenc et al. (1999) (27) * | Age 12 (f) | Chronic sinusitis and bronchitis since childhood, later bronchiectasis; from age 35, granulomatous skin lesions on legs and midface with nasal destruction; at age 39, cerebral abscesses under immunosuppression; at age 46, hypopharyngeal ulceration; at age 47, leukocytoclastic vasculitis | Homozygous HLA-A*03, B*15:01, Cw*03, DR*13:01, DQ*06:03 | TAP1 Deficiency demonstrated by lack of TAP1 protein. No TAP1 sequencing data published | Belgium | |
| Moins-Teisserenc et al. (1999) (27) * | Age 3 (f) | Initial presentation with necrotizing granulomatous lesions on both legs, later involving nose and midface; chronic sinusitis diagnosed at age 27 | Homozygous HLA-A*23:01, B*49:01, Cw*07:01, DRB1*03:01, DQB1*02:01 | TAP1 Deletion due to frameshift mutation with premature termination | Belgium | |
| Parissiadis et al. (2005) (42) | Age 14 (f) | Unilateral ocular toxoplasmosis with chorioretinitis and profound loss of vision Older brother with spastic bronchitis and chronic bacterial colonization of the lower airways | Homozygous HLA-A*24, B*14, Cw*08, DRB1*13, and DQB1*06 | TAP1 c.1564C>T; p.Arg522* | Country not stated (French origin) | |
| Wang et al. (2024) (43) | Age 27 (f) | Non-painful plaques on right leg; biopsy showed suppurative granulomatous inflammation with caseation; rubella virus–induced granulomatous disease diagnosed via metagenomic sequencing | Not stated in article | TAP1 c.1151C>G; p.Ser384* | China | |
| Maeda et al. (1985) (44) Watanabe et al. (1987) (45) de la Salle et al. (1999) (46) Furukawa et al. (1999) (47) | Age 15 (f) | Rhinitis with nasal polys, followed by sinusitis and panbronchiolitis; at age 28, granulomatous skin lesion on the left leg | Homozygous HLA-A*24:02, B*40:06, C*15, DRB1*08:03, DQB1*06:01, DPB1*05:01 | TAP1 c.778+1G>A | Japan | |
| Plebani et al. (1996) (29) de la Salle et al. (1999) (46) | Infancy (m) Not stated (m) | Sinobronchial infections from infancy, progressing to bronchiectasis; from age 8, deep skin ulcers on extremities; died at age 23 from respiratory failure Older brother died at age 20 of a cerebral abscess, with bronchiectasis and thymic atrophy at autopsy | Homozygous HLA-A*26:01, B*49:01, C*07, DRB1*13:02, DRB3*03:01, DQB1*06:04, DPB1*15:01 | TAP1 c.819delC; p.Ser274Valfs* | Italy. Shares identical haplotype with Italian patients described in (27) and (28) | |
| Gadola et al., unpublished data | <Age 6 (f) | Upper respiratory tract infections and herpetic fever blisters, herpetic keratitis, acute hearing loss, and generalized exanthema following smallpox vaccination; from age 13, granulomatous skin lesions on legs; later (adulthood) recurrent strokes and progressive atactic syndrome under immune suppression | Homozygous HLA-A32, B57 | TAP2 c.711+1G>C | Poland | |
| Bhattarai et al., 2025 (48) | Age 7 (f) | Recurrent fever and respiratory infections; severe varicella-zoster and herpes simplex virus infections; pneumonia with disseminated vesicular rash; persistent poorly healing skin lesions, pyoderma gangrenosum-like cutaneous ulcers, and vasculitic rash | Homozygous | TAP1 Not known | Nepal. Treated with IgRT and antimicrobial prophylaxis | |
| Ramalingam et al. (2024) (49) | Age 3 (m) | Recurrent pneumonia with good clinical response to HSCT | Not stated in article | TAP2 c.1733C>T; p.Ala578Val | India | |
| Samarkandy et al. (2024) (50) | Age <10 | Recurrent otitis media with effusion before age 10; from age 10, granulomatous plaque-like lesions on both legs; partial response to glucocorticoids and thalidomide, followed by severe relapse after thalidomide withdrawal | Not stated in article | TAP1 and TAP2 Homozygous 17 kb deletion spanning TAP1 exon 8 to TAP2 exon 7 | Saudi Arabia | |
| Patients with tapasin deficiency | ||||||
| Yabe et al. (2002) (51) | Age 44 (f) | Chronic glomerulonephritis for 10 years; later developed herpes zoster and gastric and colonic polyps | Homozygous HLA A*26:01, B*15:01, Cw*03:03, DRB1*15:01 | TAPBP Homozygous deletion spanning introns 3–7 | Japan | |
| Elsayed et al. (2024) (52) | Age 24 (m) | Recurrent bronchitis, sinusitis, and otitis media; diagnosed with bronchiectasis at age 24; at age 39, herpes zoster and postherpetic neuralgia at thoracic dermatomes | Not stated in article | TAPBP c.312del; p.Lys104Asnfs*6 | Turkey | |
| Ramalingam et al. (2024) (49) | Age 9 (m) | Recurrent respiratory infections with wheezing and hypoxia; at age 10, CT showed bilateral diffuse fibrosis and bronchiectasis; died at 4 mo post-HSCT due to severe viral and bacterial infections and poor lymphocyte reconstitution (2%–5%) | Not stated in article | TAPBP c.312del; p.Lys104Asnfs*6 | India | |
| Patients with β2m deficiency | ||||||
| Waldmann et al. (1990) (53) Wani et al. (2006) (54) | Age 21 (f) | Necrobiosis lipoidica diabeticorum on legs after miscarriage; low IgG and albumin; skeletal anomalities (short bowed limbs). At age 25, developed idiopathic thrombocytopenic purpura; 7 mo after splenectomy, died from pneumonia, thrombocytopenia-related hemorrhage, and septic shock. Sibling: Low IgG and bone anomalies, but asymptomatic at follow-up; anomalities attributed to FcRn deficiency | Not stated in article | β2m Homozygous mutation in signal peptide region; residual MHC class I expression | Country not stated | |
| Ardeniz et al. (2015) (55) | Age 9 (f) | Subcutaneous nodules during flu-like infection; treated empirically for suspected tuberculosis; at age 12, left lung abscess; in adulthood, nasal perforation and ulcerated violaceous skin lesions on all extremities; bronchiectasis confirmed by CT; severe hypoproteinemia at age 31. Brother: Bronchiectasis and low serum proteins; three siblings died young, one with chronic granulomatous skin lesions | HLA A*11/A*24, B*27/B*40, C*15/C*15, DRB1*04/07 | β2m Homozygous intron 1 mutation causing aberrant splicing, frameshift, and premature stop in exon 2; no detectable β2m or MHC class I expression | Turkey | |
| Authors, year (reference) . | Age at start of symptom, gender (f, m) . | Manifestations (in chronological order, where data available) . | HLA typea . | Genes affected and type of mutationa . | Country of origin . | |
|---|---|---|---|---|---|---|
| Patients with tap deficiency | ||||||
| Moins-Teisserenc et al. (1999) (27) b | Age 3 (f) | Chronic rhinitis, otitis, sinusitis; from age 11, bronchial infections with pneumonia and bronchiectasis; from age 27, necrotizing granulomatous skin lesions on nose and legs, progression to nasal destruction under immunosuppression; later developed leukocytoclastic vasculitis, nonerosive polyarthritis, retinal vasculitis, and episodic colitis (on one occasion clostridia toxin positive); at age 36, death from pneumonia | Homozygous HLA-A*11, B*15:02, Cw*08:01, DRB1*15, DQB1*06:01 | TAP2 c.1084delA; p.Ser362Valfs* | Turkey | |
| Age <5 (f) (aunt) | Recurrent rhinitis and sinusitis since childhood; nasal septal perforation and mild granulomatous lesions on nasal tip; later developed severe necrotizing granulomatous lesions on lower extremities | Same homozygous haplotype | ||||
| Caversaccio et al. (2008) (28) Moins-Teisserenc et al. (1999) (27) b | Age 4 (f) | Purulent rhinosinusitis, nasal septal perforation, recurrent middle ear effusion, tympanosclerosis, pharyngitis, mastoiditis, bronchitis, and nasal polyps; from age 10, recurrent pneumonias, bronchiectasis; from age 16: necrotizing granulomatous skin lesions on lower extremities, later involving elbows and forearms | Homozygous HLA-A*26:01, B*49:01, C*07:01, DRB1*13:02, DRB3*03:01, DQB1*06:0, DPB1*15:01 | TAP1 c.819delC; p.Ser274Valfs* | Italy. Male patient described in Plebani et al. (29) shared an identical haplotype | |
| Moins-Teisserenc et al. (1999) (27) b | Age <6 (f) (sister) | Recurrent respiratory infections with bronchiectasis; developed first skin lesions at age 22 | Same homozygous haplotype as older sister | |||
| Alemayehu et al. (2023) (30) | Age 3 (m) | From age 3, recurrent pneumonia, gastroenteritis, and tonsillopharyngitis; during infections, developed non-painful skin-colored nodules on extensor limbs | Not stated in article | TAP2 c.373del; p.Gln125Argfs*8 | Ethiopia | |
| Darazam et al. (2023) (31) | Age 26 (f) Age 26–30 (f) (cousin) | Necrotizing granulomatous skin lesions on right foot, later involvement of nose and midface Necrotizing granulomatous lesions on lower limbs with nodules around the nose | Homozygous (details not known) | TAP2 c.983delC; p.Ala328Glyfs*52 | Iran. Three family members with homozygous TAP2 mutations and only minor aphthous ulcers | |
| Espana et al. (2010) (32) | Age 9 (f) | Necrotizing granulomatous skin lesions on both legs; from late childhood, recurrent sinobronchial infections leading to bronchiectasis; at age 39, developed aggressive squamous cell carcinoma within lesional skin; patient died of metastasizing squamous cell carcinoma | Homozygous HLA-A*03:01, Cw*17:01, B*50:01, DRB1*03:01, DQA*05:01/DQB1*02:01, DPB1*04:01 | TAP2 c.628C>T | Spain | |
| Konstantinou et al. (2013) (33) | Age 5 (m) | Recurrent upper and lower respiratory infections; diagnosed with bronchiectasis at age 16; recurrent otitis causing partial bilateral deafness; from age 11, chronic necrotizing granulomatous skin lesions on right lower leg | Not stated in article | TAP2 c.1345C>T; p.Arg449* | Greece | |
| de la Salle et al. (2002) (34) | Age 43 (m) | Chronic granulomatous erythematous and brownish confluent lupoid papules and plaques on one leg; lesion resolved spontaneously 9 mo after completing antituberculosis treatment A 30-year-old sister carried the same homozygous mutation but had no symptoms at time of analysis. Note: Healthy TAP-deficient individuals reported by Markel shared identical HLA haplotype (35) | Homozygous HLA-A*03:01:01, B*07:02:01, Cw*07:02, DRB1*15, DQB1*06 | TAP2 c.1638+1G>A; p.Gly545Alafs* | Lebanon | |
| Dogu et al. (2006) (36) | Age 6 mo | Meningitis at 6 mo; from age 13, scar-forming necrotizing granulomatous lesions in midface, nose, and philtrum; eye surgery at age 13; toxoplasma pneumonitis at age 14; persistently low IgG, IgA, and B cells | Homozygous HLA-A*26, B*38, DRB1*03, DQB1*02 | TAP1 c.1312C>T; p.* | Turkey | |
| Age 17 (f) | Recurrent lower airways infections with subsequent bronchiectasis | Same homozygous haplotype | ||||
| Donato et al. (1995) (37) | Age 4 (f) Age 7 (m) | Recurrent sinobronchial infections, severe bilateral nasal polyposis, and bronchiectasis Recurrent pulmonary infections progressing to bronchiectasis; also had nasal obstruction, pansinusitis, and chronic otitis media | Homozygous HLA-A3, B63, DR4, DR53, DQ3 | TAP2 c.757C>T; p.Arg253* | Morocco | |
| Gao et al. (2016) (38) | Age 4 (f) | Recurrent pneumonia with bronchiectasis; from age 10, ulcerating skin lesions on elbows with human herpes virus (HHV) and EBV positivity; marked improvement following HSCT | Homozygous HLA-A*24:02, B*35:02, Cw*04:01, DRB*03:01, DQB*02:01, DPB*05:01 | TAP1 Homozygous deletion spanning TAP1 exon 3 to exon 11 | Pakistan | |
| Hanalioglu et al. (2017) (39) | Age 4 (f) | Sino bronchial infections resulting in bronchiectasis (age at first symptoms not reported) | Homozygous HLA-A*26, B*38, C*12, DRB1*03, DQB1*03 | TAP1 c.2104_2105insC; p.Gln702Profs*27 | Turkey | |
| Villa-Forte et al. (2008) (40) | 6 mo | Recurrent pneumonia with bronchiectasis by age 6; from age 12, multiple ulcerating granulomatous skin lesions on both legs, initially resolving, later chronic; progressive disease under high-dose glucocorticoids, cyclophosphamide, methotrexate, azathioprine, and infliximab for suspected GPA | Homozygous HLA-A*01, B*08, Cw*07, DRB1*03, DRB3, DQB1*02 | TAP1 c.2239G>A; p.* | Country not stated (Brazilian origin) | |
| Law-Ping-Man et al. (2018) (41) | Age 4 | Ulcerating granulomatous skin lesions on left cheek, gluteal region, and limbs; at age 11, spastic bronchitis with bronchiectasis | Homozygous HLA-A*02:01, B*44:02, C*05:01, DRB1*04:01,DQB1*03:01, DPB1*04:01 | TAP1 c.1879A>T; p.Lys627* | Country not stated (Caucasian origin) | |
| Moins-Teisserenc et al. (1999) (27) * | Age 12 (f) | Chronic sinusitis and bronchitis since childhood, later bronchiectasis; from age 35, granulomatous skin lesions on legs and midface with nasal destruction; at age 39, cerebral abscesses under immunosuppression; at age 46, hypopharyngeal ulceration; at age 47, leukocytoclastic vasculitis | Homozygous HLA-A*03, B*15:01, Cw*03, DR*13:01, DQ*06:03 | TAP1 Deficiency demonstrated by lack of TAP1 protein. No TAP1 sequencing data published | Belgium | |
| Moins-Teisserenc et al. (1999) (27) * | Age 3 (f) | Initial presentation with necrotizing granulomatous lesions on both legs, later involving nose and midface; chronic sinusitis diagnosed at age 27 | Homozygous HLA-A*23:01, B*49:01, Cw*07:01, DRB1*03:01, DQB1*02:01 | TAP1 Deletion due to frameshift mutation with premature termination | Belgium | |
| Parissiadis et al. (2005) (42) | Age 14 (f) | Unilateral ocular toxoplasmosis with chorioretinitis and profound loss of vision Older brother with spastic bronchitis and chronic bacterial colonization of the lower airways | Homozygous HLA-A*24, B*14, Cw*08, DRB1*13, and DQB1*06 | TAP1 c.1564C>T; p.Arg522* | Country not stated (French origin) | |
| Wang et al. (2024) (43) | Age 27 (f) | Non-painful plaques on right leg; biopsy showed suppurative granulomatous inflammation with caseation; rubella virus–induced granulomatous disease diagnosed via metagenomic sequencing | Not stated in article | TAP1 c.1151C>G; p.Ser384* | China | |
| Maeda et al. (1985) (44) Watanabe et al. (1987) (45) de la Salle et al. (1999) (46) Furukawa et al. (1999) (47) | Age 15 (f) | Rhinitis with nasal polys, followed by sinusitis and panbronchiolitis; at age 28, granulomatous skin lesion on the left leg | Homozygous HLA-A*24:02, B*40:06, C*15, DRB1*08:03, DQB1*06:01, DPB1*05:01 | TAP1 c.778+1G>A | Japan | |
| Plebani et al. (1996) (29) de la Salle et al. (1999) (46) | Infancy (m) Not stated (m) | Sinobronchial infections from infancy, progressing to bronchiectasis; from age 8, deep skin ulcers on extremities; died at age 23 from respiratory failure Older brother died at age 20 of a cerebral abscess, with bronchiectasis and thymic atrophy at autopsy | Homozygous HLA-A*26:01, B*49:01, C*07, DRB1*13:02, DRB3*03:01, DQB1*06:04, DPB1*15:01 | TAP1 c.819delC; p.Ser274Valfs* | Italy. Shares identical haplotype with Italian patients described in (27) and (28) | |
| Gadola et al., unpublished data | <Age 6 (f) | Upper respiratory tract infections and herpetic fever blisters, herpetic keratitis, acute hearing loss, and generalized exanthema following smallpox vaccination; from age 13, granulomatous skin lesions on legs; later (adulthood) recurrent strokes and progressive atactic syndrome under immune suppression | Homozygous HLA-A32, B57 | TAP2 c.711+1G>C | Poland | |
| Bhattarai et al., 2025 (48) | Age 7 (f) | Recurrent fever and respiratory infections; severe varicella-zoster and herpes simplex virus infections; pneumonia with disseminated vesicular rash; persistent poorly healing skin lesions, pyoderma gangrenosum-like cutaneous ulcers, and vasculitic rash | Homozygous | TAP1 Not known | Nepal. Treated with IgRT and antimicrobial prophylaxis | |
| Ramalingam et al. (2024) (49) | Age 3 (m) | Recurrent pneumonia with good clinical response to HSCT | Not stated in article | TAP2 c.1733C>T; p.Ala578Val | India | |
| Samarkandy et al. (2024) (50) | Age <10 | Recurrent otitis media with effusion before age 10; from age 10, granulomatous plaque-like lesions on both legs; partial response to glucocorticoids and thalidomide, followed by severe relapse after thalidomide withdrawal | Not stated in article | TAP1 and TAP2 Homozygous 17 kb deletion spanning TAP1 exon 8 to TAP2 exon 7 | Saudi Arabia | |
| Patients with tapasin deficiency | ||||||
| Yabe et al. (2002) (51) | Age 44 (f) | Chronic glomerulonephritis for 10 years; later developed herpes zoster and gastric and colonic polyps | Homozygous HLA A*26:01, B*15:01, Cw*03:03, DRB1*15:01 | TAPBP Homozygous deletion spanning introns 3–7 | Japan | |
| Elsayed et al. (2024) (52) | Age 24 (m) | Recurrent bronchitis, sinusitis, and otitis media; diagnosed with bronchiectasis at age 24; at age 39, herpes zoster and postherpetic neuralgia at thoracic dermatomes | Not stated in article | TAPBP c.312del; p.Lys104Asnfs*6 | Turkey | |
| Ramalingam et al. (2024) (49) | Age 9 (m) | Recurrent respiratory infections with wheezing and hypoxia; at age 10, CT showed bilateral diffuse fibrosis and bronchiectasis; died at 4 mo post-HSCT due to severe viral and bacterial infections and poor lymphocyte reconstitution (2%–5%) | Not stated in article | TAPBP c.312del; p.Lys104Asnfs*6 | India | |
| Patients with β2m deficiency | ||||||
| Waldmann et al. (1990) (53) Wani et al. (2006) (54) | Age 21 (f) | Necrobiosis lipoidica diabeticorum on legs after miscarriage; low IgG and albumin; skeletal anomalities (short bowed limbs). At age 25, developed idiopathic thrombocytopenic purpura; 7 mo after splenectomy, died from pneumonia, thrombocytopenia-related hemorrhage, and septic shock. Sibling: Low IgG and bone anomalies, but asymptomatic at follow-up; anomalities attributed to FcRn deficiency | Not stated in article | β2m Homozygous mutation in signal peptide region; residual MHC class I expression | Country not stated | |
| Ardeniz et al. (2015) (55) | Age 9 (f) | Subcutaneous nodules during flu-like infection; treated empirically for suspected tuberculosis; at age 12, left lung abscess; in adulthood, nasal perforation and ulcerated violaceous skin lesions on all extremities; bronchiectasis confirmed by CT; severe hypoproteinemia at age 31. Brother: Bronchiectasis and low serum proteins; three siblings died young, one with chronic granulomatous skin lesions | HLA A*11/A*24, B*27/B*40, C*15/C*15, DRB1*04/07 | β2m Homozygous intron 1 mutation causing aberrant splicing, frameshift, and premature stop in exon 2; no detectable β2m or MHC class I expression | Turkey | |