Table 1.
Clinical findings in SCID patients.
| Pt. code | Genetic defect | Sex | Age at diagnosis (Days) | Age of onset (Days) | Family history | Consanguinity | Pneumonia | GI infection | Organism isolated (source) | Oral candidiasis | Chronic diarrhea | FTT | BCGiosis | Skin rash | Dysmorphic features | Other infections | Status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | PNP | Female | 365 | 15 | + | + | + | – | Candida (Blood culture) | + | – | + | – | – | – | Meningitis, delayed motor milestones and involuntary movements | Dead/18 months of age |
| P2 | RAG1 (OS) | Female | 91 | 46 | – | + | – | – | – | – | + | – | – | + | – | Blephatis, Shedding of eyelashes, ear discharge, discharge from umbilical stump | Dead/4 months of age |
| P3 | RFXAP | Male | 183 | 183 | + | – | + | – | Burkholderia cepacia (Blood culture) | – | – | + | – | + | – | Amoeboid blanching skin rash | Dead/7 months of age |
| P4 | ADA (Leaky/atypical) | Male | 183 | 20 | + | + | + | – | – | – | – | + | – | – | + | Low set ears, frontal bossing, fused eyebrows | Dead/6 months of age |
| P5 | ZAP70 | Male | 365 | 61 | + | + | + | + | – | – | + | – | + | + | – | NS | Dead/18 months of age |
| P6 | RFXAP | Male | 91 | 91 | + | – | – | – | – | – | – | – | – | – | – | Pre-symptomatic diagnosis | HSCT/Dead at 7 months |
| P7 | IL2RG | Male | 61 | 61 | + | – | – | – | – | – | – | – | – | – | – | Umbilical sepsis, fever, urinary tract infection | Dead/5 months of age |
| P8 | IL2RG | Male | 91 | ND | ND | ND | + | ND | ND | ND | ND | ND | ND | NS | Dead/6 months of age | ||
| P9 | IL2RG | Male | 91 | 91 | – | – | – | – | Pseudomonas aeruginosa (Blood culture) | – | – | – | – | – | – | Multiple deep-seated abscess | Dead/5 months of age |
| P10 | IL2RG | Male | 152 | 30 | + | – | + | – | Klebsiella pneumonia (Blood culture) | + | – | + | – | + | – | Oral thrush, convulsion, | Dead/11 months of age |
| P11 | ADA | Male | 30 | 45 | + | – | + | – | Klebsiella (Blood culture) | – | – | + | ND | + | – | Hypoglycemic convulsions, blisters on face and cheeks and hyperpigmentation | Dead/2 months of age |
| P12 | JAK3 (Leaky/atypical) | Male | 183 | 122 | + | – | + | + | Staphylococcus aureus (Blood culture) | – | + | + | + | – | – | Soft hepatosplenomegaly | HSCT/Dead at 12 months |
| P13 | AK2 | Male | 12 | 12 | + | + | + | – | Candida (Blood culture) | + | – | – | NI | – | – | NS | HSCT/Dead at 2 months |
| P14 | ADA | Female | 76 | 30 | + | – | + | + | – | – | + | + | – | – | – | NS | Dead/3 months of age |
| P15 | JAK3 | Male | 61 | 15 | – | – | – | – | – | – | – | – | – | – | – | Recurrent boils, multiple scalp abscess and liver abscess, liver abscess | Dead/6 months of age |
| P16 | RAG1 | Female | 753 | 365 | – | – | – | + | Candida (Blood culture) | + | + | – | – | – | – | Oesophagul candidiasis, celiac disease | Alive |
| P17 | ADA | Male | 152 | 137 | + | – | – | – | – | – | – | – | + | – | – | Humerus crack with severe swelling at site for 3-5, hepatosplenomegaly with soft tissue mass in abdomen | Dead/5 months of age |
| P18 | RAG2 | male | 122 | 122 | – | – | + | + | Rotavirus (stool culture) | – | + | + | – | + | – | Atopic dermatitis, Impetigo over back | Dead/6 months of age |
| P19 | - (Leaky/atypical) | Male | 365 | 122 | – | – | + | + | Gram+ve Bacilli | – | + | + | – | – | – | Pallor | Dead/2 months of age |
| P20 | RFX5 | Female | 213 | 91 | – | – | + | – | Candida (Bronchoalveolar lavage) | – | – | – | – | – | – | Fever, hepatosplenomegaly, motor development delay | HSCT/Dead at 9 months |
| P21 | RFXAP | Male | 122 | 15 | + | + | + | + | Candida albicans (Bronchoalveolar lavage) | + | + | + | – | + | – | NS | Dead/6 months of age |
| P22 | ADA | Male | 30 | 15 | + | – | – | – | Klebsiella pneumonia (Blood culture) | + | – | + | – | + | – | NS | Dead/1.5 months of age |
| P23 | – | Male | 213 | 46 | + | ND | + | + | ND | – | + | + | – | – | – | Tachypnea with respiratory distress, acute bronchiolitis | Dead/7 months of age |
| P24 | RAG2 | Male | 213 | 152 | – | – | + | Klebsiella pneumonia (Blood culture) | – | – | – | – | – | – | NS | Dead/12 months of age | |
| P25 | PRKDC (leaky) | Male | 61 | 61 | + | + | + | – | RSV (ND) | – | – | + | – | – | + | low set ears, retrognathia Developmental delay | Lost to follow up |
| P26 | RAG1 (Leaky/atypical) | Male | 730 | 91 | + | + | – | – | – | – | + | – | – | + | – | Nephrotic range of proteinuria,ITP | Dead/36 months of age |
| P27 | – | Female | 91 | 30 | + | – | + | – | Pseudomonas aeruginosa (Blood culture) | – | – | – | – | + | – | extensive pyoderma | Dead/6 months of age |
| P28 | – | Male | 304 | 304 | – | ND | – | – | Klebsiella (Blood culture), Candida | + | – | + | – | – | – | Hyponatremia, septic shock, severe dehydration | Dead/12 months of age |
| P29 | JAK3 | Female | 152 | 106 | – | – | + | – | AFB (Blood culture) | + | – | + | + | – | – | NS | Dead/8 months of age |
| P30 | – | female | 61 | 61 | – | + | + | – | – | + | – | + | – | – | – | Developmental delay, diffuse cerebral atrophy, microcephaly, scalp seborrhea, oral thrush | Lost to follow up |
| P31 | IL7RA | Female | 213 | 61 | – | + | + | – | PCP (ND) | + | + | – | – | – | – | Convulsions | Dead/8 months of age |
| P32 | DCLER1C | Male | 183 | 152 | + | – | + | – | Pseudomonas aeruginosa (Blood culture) | – | – | – | Not immunized | – | – | Acute respiratory distress | Died/7 months of age |
| P33 | CIITA | Male | 213 | 122 | – | – | – | – | Chryseobacterium (Blood culture) | – | – | – | – | – | – | Acute respiratory distress | Alive |
| P34 | – (Leaky/atypical) | Female | 243 | 213 | + | ND | + | – | Candida (Blood culture) | + | – | – | ND | – | – | Acute fever, positive for H1N1 | Lost to follow up |
| P35 | RAG2 (Leaky/atypical) | Female | 243 | 91 | – | – | + | – | – | – | – | + | ND | – | – | NS | Dead/10 months of age |
| P36 | JAK3 | Male | 183 | 61 | + | + | + | – | – | – | + | + | – | – | + | Triangular face, low set ears, dry skin, hair sparse | Dead/6 months of age |
| P37 | IL2RG | Male | 91 | 91 | + | – | + | – | – | – | – | + | – | + | – | Recurrent fever, hypopigmented fungal perianal rashes | Dead/4 months of age |
| P38 | RAG1 | Female | 122 | 61 | + | – | – | + | – | – | + | + | – | – | + | - Microcephaly, short philtrum, broad nasal bridge | Lost to follow up |
| P39 | JAK3 (OS) | Female | 122 | 30 | – | – | – | – | MTB (Sputum culture) | – | – | – | – | + | – | Culture negative sepsis, cutaneous abscess, rectovaginal fistula | Dead/5 months of age |
| P40 | JAK3 | Male | 152 | 15 | – | – | – | – | Budding yeast with Pseudohyphae (ND) | – | + | + | + | + | – | NS | Dead/6 months of age |
| P41 | IL2RG | Male | 213 | 122 | + | – | + | – | Disseminated BCG (ND) | – | – | – | + | – | + | Abscess | Dead/9 months of age |
| P42 | RAG1 | Male | 60 | 60 | + | – | + | + | – | – | + | + | – | – | NS | Dead/3 months of age | |
| P43 | RAG2 (OS) | Male | 122 | 183 | + | – | + | – | Klebsiella pneumonia (Blood culture) | – | + | + | – | + | – | NS | Dead/6 months of age |
| P44 | IL2RG (Leaky) | Male | 152 | 0 | – | – | – | – | – | – | – | – | – | – | – | Pre-symptomatic diagnosis | Dead/10 months of age |
| P45 | IL2RG | Male | 183 | 106 | – | – | + | – | – | – | – | + | – | – | – | persistent cough, hypoxia, and respiratory distress | Dead/8 months of age |
| P46 | DCLER1C | Male | 183 | 183 | + | – | – | – | – | – | – | + | – | – | – | Fever high grade of unknown origin | Dead/8 months of age |
| P47 | – | Male | 18 | 18 | + | – | – | – | – | NS | Alive | ||||||
| P48 | RAG | Male | 27 | 20 | – | – | + | – | Pseudomonas aeruginosa (Blood culture) | – | – | – | – | – | – | Pallor, fever, cough | Dead/months of age |
| P49 | RFXANK | Female | 243 | 122 | + | + | + | – | – | – | – | + | – | – | – | NS | Dead/10 months of age |
| P50 | ZAP70 (Atypical) | Male | 304 | 304 | + | + | + | + | Cryptosporidium, AFB (ND) | – | + | + | + | + | – | Bilateral axillary lymphadenopathy, erythematous Urticarial rash | Dead/3 months of age |
| P51 | RAG1 (OS) | Female | 46 | 5 | + | – | – | – | Staph aureus (Blood culture) | – | – | + | – | + | – | Erythematous scaly eczema like rash, inguinal lymphadenopathy | Dead/3 months of age |
| P52 | JAK3 | Male | 91 | 183 | – | + | + | + | Klebsiella pneumonia (Blood culture) | – | + | + | – | – | – | NS | Alive |
| P53 | ADA | Male | 61 | 14 | – | + | + | – | Rubella, HSV (ND) | – | – | + | – | – | – | Severe sepsis increased respiratory activity | Alive |
| P54 | JAK3 | Female | 304 | 15 | + | + | + | – | Candida (Blood culture) | + | ND | + | ND | ND | ND | ND | Dead/11 months of age |
| P55 | JAK3 (Leaky/atypical) | Male | 122 | 30 | – | + | + | – | – | – | + | + | – | – | – | NS | Alive |
| P56 | – | Female | 61 | 61 | + | + | + | – | – | – | – | + | – | – | – | NS | Dead/3 months of age |
| P57 | RAG1 | Male | 304 | 10 | – | + | + | – | – | – | + | + | – | + | – | Recurrent fever Septic arthritis, Knee abscess | Dead/10 months of age |
ND, No data; “+,” Present; “–,” Absent; NS, Nothing significant; HSCT, Hematopoietic stem cell transplantation; RSV, respiratory syncytial virus; BCG, Bacillus Calmette–Guérin; HSV, herpes simplex virus; MTB, mycobacterium tuberculosis; IL2RG, Interleukin 2 receptor gamma chain; JAK3, Janus Kinase 3; IL7RA, Interleukin 7 receptor alpha; ADA, Adenosine Deaminase; PNP, Purine nucleoside phosphorylase; AK2, adenylate kinase 2; RAG1/2, Recombination activating gene1/2; DCLER1C, DNA Cross-Link Repair 1C; RFXAP, Regulatory Factor X Associated Protein; RFX5, Regulatory factor 5; RFXANK, Regulatory Factor X Associated Ankyrin Containing Protein; CIITA, Class II Major Histocompatibility Complex Transactivator; ZAP70, Zeta-chain-associated protein kinase 70.