Dobbs et al. 2015 (1) | Lebanese | Male | 3m | p.Y1242Yfs*33, frameshift insertion | Alive | HSCT | RSV | Pneumonia, bronchiolitis | Low IgM / Lymphopenia / Low CD4, CD8/ Reduced lymphocyte activation / Reduced IFN response to HSV-1 & VSV |
Dobbs et al. 2015 (1) | Finnish | Female | 2y | p.R1104W, p.Q1324*, compound heterozygous | Alive | HSCT | Vaccine strain-related VZV, Mycobacterium avium, Herpes virus-6 | VZV vaccine-related infection, pneumonia, otitis media, diarrhea | Low IgM, High IgE / Lymphopenia / Low CD4, CD8/ Reduced lymphocyte activation / Reduced IFN response to HSV-1 & VSV, Reduced tetanus & PRP antibody response |
Dobbs et al. 2015 (1) | Turkish | Male | 3m | p.R751S, missense | Dead (6y, VZV) | N/A | VZV, Mumps | Respiratory infection, meningoencephalitis with lymphocyte infiltrates | Lymphopenia / Low CD4, CD8/ Reduced T cell proliferation / Reduced IFN response to HSV-1 & VSV / No VZV antibody response |
Dobbs et al. 2015 (1) | Turkish | Male | 3m | p.F744Cfs*27, frameshift insertion | Dead (20m, Klebsiella sepsis) | N/A | CMV, Parainfluenza, Adenovirus, Klebsiella | Fever, neonatal onset chronic diarrhea, oral moniliasis, growth failure, nodular erythematous lesion at BCG site, granulomatous hepatitis, colitis, sepsis | Low IgM, High IgA / Lymphopenia / Low CD4, CD8/ Reduced T cell activation / No HBV antibody response |
Dobbs et al. 2015 (1) | Hispanic (Honduras / Nicaragua) | Male | 4m | p.M120Mfs*22, p.P1476L, compound heterozygous | Alive | HSCT | N/A | Pneumonia, rectal fistula | High IgM, IgE / Lymphopenia / Low CD4, CD8/ high NK counts / No KLH antibody response |
Alizadeh et al. (3) | Iranian | Female | 2m | c.C3310T (p.R1104W), missense | Dead (1y, while waiting for HSCT) | IVIG, antiviral, antibiotics | CMV | Severe early-onset CMV infection, diarrhea, seizures, thrombocytopenia, septicemia | High IgM / Lymphopenia / Low CD4, CD8 / Reduced T cell proliferation / Reduced BCG antibody response |
Alosaimi et al. 2019 (4) | N/A | Female | 2w | Del902-1078, deletion | Alive | HSCT, IVIG, antiviral | CMV | Neonatal onset chronic diarrhea, recurrent sino-pulmonary infection, CMV viremia | Lymphopenia / Low CD4/ naïve T cell lymphopenia/ Reduced T cell proliferation / Reduced Candida antibody response/ Low IgG, High IgM |
Alosaimi et al. 2019 (4) | N/A | Male | 5m | p.Phe848fs, frameshift | Dead (20m, sepsis) | IVIG, prophylaxis antibiotics | N/A | Chronic diarrhea, pulmonary infection, oral candidiasis, sepsis | Lymphopenia / Low CD4/ naïve T cell lymphopenia/ Reduced T cell proliferation/ Low IgM, IgA, IgG |
Moens et al. 2019 (5) | Moroccan | Male | Birth | c.2704-2 A > C, alternative splicing | Dead (ARDS, capillary leak syndrome) | HSCT | E. coli | Leaky SCID, ulcerative perianal dermatitis, ARDS, Omenn syndrome, nephrotic syndrome | Lymphopenia / Profound naïve T cell lymphopenia/ Low CD4, CD8/ Low IgM, IgA; High IgE / Reduced lymphocyte & neutrophil function |
Moens et al. 2019 (5) | Moroccan | Male | 4m | c.2704-2 A > C, alternative splicing | Dead (ADRS, multi-organ failure post HSCT) | HSCT | CMV, Enterovirus, Rhinovirus, Pneumocystis jiroveci | Sepsis, ADRS, hepatitis | Lymphopenia / Profound naïve T cell lymphopenia/ Low CD4, CD8/ Reduced lymphocyte function |
Moens et al. 2019 (5) | Moroccan | Female | N/A | c.2704-2 A > C, alternative splicing | Alive | HSCT | Influenza A, Rhinovirus | Bloody diarrhea | Lymphopenia / Profound naïve T cell lymphopenia/ Low CD4, CD8/ Reduced lymphocyte function |
Moens et al. 2019 (5) | Morroccan | Female | N/A | c.2704-2 A > C, alternative splicing | Dead (4m, VZV) | N/A | VZV | Severe VZV infection | Lymphopenia / Profound naïve T cell lymphopenia/ Low CD4, CD8/ Reduced lymphocyte function |
Yang et al. 2020 (6) | Chinese | Male | 1y | c.5335A > T (p.T1779S), c.2423T > C (p.M808T), compound heterozygous | N/A | N/A | N/A | N/A | Low IgG, IgM / Low B cell count and memory B cell / Abnormal B cell function / Reduced NK cell |
Yang et al. 2020 (6) | Chinese | Female | 10y | c.743A > G (p.N248S), c.5048C > T (p.P1683L), compound heterozygous | N/A | N/A | N/A | N/A | High IgG, IgA / Reduced NK cell and memory B cell / Abnormal B cell function |
Sharifinejad et al. 2021 (7) | Iranian/Turkish | Female | 18m | c.1512delG (p.I505Sfs*28), frameshift deletion | Dead (27m, multiorgan failure) | Antivirals, anti TB, dialysis | Mycobacterium TB | Pneumonia, otitis media, skeletal TB, pneumothorax, seizure, renal failure | Low IgM, High IgE / Low T cell count / High B & NK cell counts / Reduced DTX antibody response |
Vignesh et al. 2021 (8) | Indian | Male | 48m | c.3430C > T (p.R1144X), nonsense | N/A | N/A | N/A | Recurrent pneumonia, otitis media | Low IgG, IgM, IgA / Low T cell count |
Aytekin et al. 2021 (9) | Turkish | Male | 4.5m | c.1773_1774insG (p.L592Afs*76), frameshift | Dead (17m, HLH, GvHD) | HSCT, IVIG, prophylaxis antibiotics and antifungal | CMV, EBV, Candida inconspicua | Diarrhea, recurrent pneumonia, CMV pneumonia, perianal abscess, growth failure, hepatosplenomegaly, HLH (EBV infection) | Low T cell count / Very low naïve CD4 count and recent thymic emigrants / High B cell count |
Shakerian et al. 2021 (10) | Iranian | Female | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
D'Astous-Gauthier et al. 2021 (11) | Canadian | Female | 2m | c.856A > T (p.Lys286*), stop-gain | Alive | HSCT, IVIG, prophylaxis antibacterial | Parainfluenza | Non-infectious colitis, recto-vaginal fistula, recurrent pharyngitis, oral candidiasis and acute otitis | Low T and B cell counts / Low CD4, CD8 / Reduced T cell proliferation / Undetectable tetanus antibody vaccination response |
Bruusgaard-Mouritsen et al. 2022 (12) | Turkish | Male | 3m | c.1555 + 1G > A | Alive | HSCT, ATG | RSV | Sepsis, growth failure, respiratory infection, dysmorphic features, hydrocephalus, hypogonadism, infertility, teeth problems and metabolic syndrome | Lymphopenia / Severely reduced T cell count / Low CD4, CD8 / Reduced CD21 + B cell |
Bruusgaard-Mouritsen et al. 2022 (12) | Turkish | Female | Few days old | c.1555 + 1G > A | Alive | HSCT | N/A | Neonatal sepsis | Low T cell counts / Low CD4, CD8 |
Li et al. 2023 (13) | Chinese | Male | 2m | c.657delC (p.T220Pfs*8), c.3689 T > C (p.L1230P), compound heterozygous | Alive | IVIG | VZV, Hemophilus influenza, Rotavirus | Pneumonia, otitis media, conjunctivitis, perianal abscess, subcutaneous nodules, rota virus vaccine-related enteritis | Lymphopenia / Low CD4 / NK cell & neutrophil defects / Low IgA / Reduced IFN response |
Li et al. 2023 (13) | Chinese | Male | 2m | c.1844–14 (IVS18)G > A,1464delC (p.W489fs*44), compound heterozygous | Alive | Symptomatic treatment | Coxsackievirus, Mycoplasma pneumoniae, Streptococcus pneumoniae | Recurrent respiratory infection, viral encephalitis, seizure, nodular erythematous lesion at BCG site, hand-foot-mouth disease vaccine-related infection | Low T cell count / Low CD4 / High NK cell count / NK cell & neutrophil defects / High IgE / Reduced IFN response |
Reiff et al. 2023 (14) | American | Male | 7y | c.1334A > G (p.Asn445Ser), heterozygous mutation, likely dominant by negative dominance | Alive | N/A | Staphylococcus aureus, Candida albicans, Bacillus licheniformis, Klebsiella pneumoniae | Recurrent HLH secondary to recurrent central line-associated bloodstream infections | Lymphopenia / Reduced NK cell function |
Our patient | Saudi | Female | 2m | c.422dup (p.Lys142Glufs*12), frameshift deletion | Waiting HSCT | IVIG, antivirals, prophylactic antibiotic | VZV, Adenovirus, Candida albicans, HPV | Cutaneous common warts, chronic fungal onychomycosis, oral moniliasis, gastroenteritis, mucoid diarrhea, pneumonia, conjunctivitis | High IgE / Lymphopenia / Low T and B cell counts/ Low CD4, CD8 |