Symptom Information: Sort according to HPO 

1
 (HPO:0001508) Failure to thrive 454 / 7739
2
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
3
 (HPO:0100806) Sepsis Occasional [Orphanet] 48 / 7739
4
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
5
 (HPO:0100646) Thyroiditis Occasional [Orphanet] 11 / 7739
6
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
7
 (HPO:0002716) Lymphadenopathy Very frequent [Orphanet] 129 / 7739
8
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
9
 (HPO:0002960) Autoimmunity Occasional [Orphanet] 78 / 7739
10
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
11
 (HPO:0004332) Abnormality of lymphocytes Very frequent [Orphanet] 12 / 7739
12
 (HPO:0001019) Erythroderma 24 / 7739
13
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
14
 (HPO:0000100) Nephrotic syndrome Occasional [Orphanet] 83 / 7739
15
 (HPO:0000989) Pruritus Frequent [Orphanet] 111 / 7739
16
 (HPO:0004430) Severe combined immunodeficiency Very frequent [Orphanet] 16 / 7739
17
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
18
 (HPO:0001879) Abnormality of eosinophils Frequent [Orphanet] 20 / 7739
19
 (HPO:0001880) Eosinophilia 35 / 7739
20
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
21
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
22
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
23
 (HPO:0000944) Abnormality of the metaphyses Occasional [Orphanet] 141 / 7739
24
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
25
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
26
 (HPO:0001974) Leukocytosis Frequent [Orphanet] 33 / 7739
27
 (HPO:0000778) Hypoplasia of the thymus 13 / 7739
28
 (HPO:0000969) Edema Frequent [Orphanet] 117 / 7739
29
 (HPO:0001873) Thrombocytopenia 224 / 7739
30
 (HPO:0002014) Diarrhea 225 / 7739
31
 (HPO:0002090) Pneumonia 59 / 7739
32
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
33
 (HPO:0002841) Recurrent fungal infections 16 / 7739
34
 (HPO:0003075) Hypoproteinemia 27 / 7739
35
 (HPO:0004429) Recurrent viral infections 20 / 7739
36
 (HPO:0005365) Severe B lymphocytopenia 3 / 7739
37
 (HPO:0010976) B lymphocytopenia 8 / 7739
38
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
39
 (OMIM) Lymphocytic infiltrates with occasional histiocytes and eosinophils 1 / 7739
40
 (OMIM) Increased frequency of bacterial, viral, and fungal infections 1 / 7739
41
 (OMIM) Lymph node architecture severely altered: lack of follicles, depletion of lymphocytes, and increased proportion of interdigitating reticular cells and eosinophils 1 / 7739
42
 (OMIM) Very low B cells 1 / 7739
43
 (OMIM) Variable (often increased) number of activated CD45RO+, DR+ circulating T cells 1 / 7739
44
 (OMIM) Poor proliferative response of T lymphocytes to specific antigens 1 / 7739
45
 (OMIM) Hypoplastic thymus which often lacks Hassal corpuscles 1 / 7739
46
 (OMIM) Defect in V(D)J recombination process 1 / 7739
47
 (OMIM) Very low IgG 1 / 7739
48
 (OMIM) Very low IgA 1 / 7739
49
 (OMIM) Very low IgM 1 / 7739
50
 (OMIM) Increased IgE 1 / 7739
51
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
52
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739