Information on subject 104570

Basic details

Sex: Female

Country: Pakistan

Population: Pakistani

Family ID: 215551

Father: 104564

Mother: 104563

Consanguinity: Yes

Clin. status: Affected

Age of death: 5.0

Ref.ID & pub.codes

2016 [837] Fam.1:IV.4(IV:4)
2016 [843] Fam.1:IV.3(NA)
2024 [903] Fam.A:V.7(028)

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
AIPDS	Autoinflammation, panniculitis, and dermatosis syndrome	AR	5.00	0.01

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
OTULIN	L272P	EX6	c.815T>C	p.Leu272Pro	missense_variant	Pathogenic	HOM	Yes, alone

Clinical manifestations

Age	Sign/Symptom	Present?	Severity	Presentation
Unk.	Reduced number of B cells	No
2.83	Increased IgM levels	No
5.00	Ileus	Yes
4.20	Cataract	Yes
Unk.	Reduced NK cell number	No
Unk.	Fever	Yes
Unk.	Vasculitis	No
0.04	Leukocytosis	Yes
5.00	Leukocytosis	Yes
Unk.	Increased number of B cells	No
5.00	Acute kidney failure	Yes
Unk.	Reduced T cell count	No
Unk.	Growth delay	Yes
Unk.	Premature birth	Yes
5.00	Hyperuricemia	Yes
Unk.	Failure to thrive	Yes
2.83	Increased IgG level	No
0.04	Neutrophilia	Yes
2.83	Increased IgA levels	Yes
Unk.	sleep disturbance	Yes
Unk.	Skin rash	Yes		recurrent
0.04	Elevated C-reactive protein	Yes
Unk.	Global developmental delay	Yes
Unk.	Joint swelling	Yes
Unk.	Hepatosplenomegaly	No
5.00	Metabolic acidosis	Yes
Unk.	Vomiting	Yes
5.00	Hyperkalemia	Yes
5.00	Hyperphosphatemia	Yes
Unk.	Nasogastric tube feeding in infancy	Yes
0.01	Panniculitis	Yes		recurrent
Unk.	Bloody diarrhea	Yes		recurrent
Unk.	Systemic autoinflammation	Yes
5.00	Systemic autoinflammation	Yes	fatal
5.00	Pulmonary edema	Yes
Unk.	Antineutrophil antibodies	No
Unk.	Increased serum complement C3	Yes

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Result
0.04	Leukocytes	27100	5900 - 11900	High
0.04	Neutrophils	21900	1350 - 5400	High
0.08	Neutrophils	16000	1350 - 5400	High
0.08	Leukocytes	24600	5900 - 11900	High
0.25	Leukocytes	50800	5900 - 11900	High
0.25	Neutrophils	42100	1350 - 5400	High
0.47	Leukocytes	22000	5900 - 11900	High
0.48	Neutrophils	16900	1350 - 5400	High
1.07	Neutrophils	56500	1350 - 5400	High
1.14	Leukocytes	51700	5900 - 11900	High
1.16	Neutrophils	49700	1350 - 5400	High
1.31	Leukocytes	70300	5900 - 11900	High
1.33	Neutrophils	64900	1350 - 5400	High
1.72	Neutrophils	28700	1350 - 5400	High
2.07	Leukocytes	26300	5900 - 11900	High
2.09	Neutrophils	21900	1350 - 5400	High
2.34	Neutrophils	69900	1350 - 5400	High
2.35	Leukocytes	74600	5900 - 11900	High
2.40	Neutrophils	39600	1350 - 5400	High
2.40	Leukocytes	42400	5900 - 11900	High
2.48	Neutrophils	69900	1350 - 5400	High
2.49	Leukocytes	72900	5900 - 11900	High
2.57	Neutrophils	27000	1350 - 5400	High
2.57	Leukocytes	32200	5900 - 11900	High
2.65	Leukocytes	48300	5900 - 11900	High
2.76	Leukocytes	49100	5900 - 11900	High
2.80	Neutrophils	44700	1350 - 5400	High
2.91	Leukocytes	65300	5900 - 11900	High
2.91	Neutrophils	60700	1350 - 5400	High
2.92	Leukocytes	42400	5900 - 11900	High
2.94	Neutrophils	35400	1350 - 5400	High
2.99	Leukocytes	83000	5900 - 11900	High
3.05	Neutrophils	77500	1350 - 5400	High
3.05	Leukocytes	24600	5900 - 11900	High
3.08	Neutrophils	17700	1350 - 5400	High
3.27	Leukocytes	47500	5900 - 11900	High
3.34	Neutrophils	43800	1350 - 5400	High
3.71	Leukocytes	56800	5900 - 11900	High
3.76	Neutrophils	52200	1350 - 5400	High
4.13	Leukocytes	29700	5900 - 11900	High
4.18	Neutrophils	26100	1350 - 5400	High
4.30	Leukocytes	98300	5900 - 11900	High
4.61	Leukocytes	133000	5900 - 11900	High
4.66	Neutrophils	94400	1350 - 5400	High
4.72	Leukocytes	78800	5900 - 11900	High
4.77	Neutrophils	74200	1350 - 5400	High
4.86	Leukocytes	118600	5900 - 11900	High
4.91	Neutrophils	91000	1350 - 5400	High

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
	C3	277	75 - 175 mg/dL	High
0.01	IgA	7	1 - 1 mg/dL	High
0.01	IgM	11	5 - 20 mg/dL	Normal
0.01	IgG	558	500 - 1700 mg/dL	Normal
0.03	CRP	138	1 - 10 mg/L	High
0.04	CRP	13	1 - 10 mg/L	High
0.09	CRP	192	1 - 10 mg/L	High
0.15	CRP	123	1 - 10 mg/L	High
0.18	CRP	170	1 - 10 mg/L	High
0.20	CRP	61	1 - 10 mg/L	High
0.25	CRP	143	1 - 10 mg/L	High
0.35	CRP	120	1 - 10 mg/L	High
0.41	CRP	172	1 - 10 mg/L	High
0.47	CRP	152	1 - 10 mg/L	High
0.56	CRP	165	1 - 10 mg/L	High
0.71	CRP	150	1 - 10 mg/L	High
0.74	CRP	165	1 - 10 mg/L	High
0.76	CRP	157	1 - 10 mg/L	High
0.78	CRP	207	1 - 10 mg/L	High
0.84	CRP	98	1 - 10 mg/L	High
0.88	CRP	163	1 - 10 mg/L	High
1.13	CRP	172	1 - 10 mg/L	High
1.23	CRP	143	1 - 10 mg/L	High
1.25	CRP	17	1 - 10 mg/L	High
1.27	CRP	278	1 - 10 mg/L	High
1.31	CRP	266	1 - 10 mg/L	High
1.40	CRP	96	1 - 10 mg/L	High
1.44	CRP	103	1 - 10 mg/L	High
1.48	CRP	233	1 - 10 mg/L	High
2.83	IgA	195	30 - 120 mg/dL	High
2.83	IgM	105	50 - 220 mg/dL	Normal
2.83	IgG	1350	311 - 1380 mg/dL	Normal

[ℹ] shows name on hover
* Measured during IVIG or other treatment.

Phenotypic & functional assays

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.

[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover