Disease #02184

Official abbreviation XLA;AGMX-1
Name agammaglobulinemia, X-linked (XLA, agammaglobulinemia, X-linked, type 1 (AGMX-1))
OMIM ID 300755
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1702
Phenotype entries for this disease 1801
Associated with 1 gene BTK
Associated tissues -
Disease features -
Remarks -


Individuals

1702 entries on 18 pages. Showing entries 1 - 100.
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00053151 P10 PubMed: Lee, P. P (2010) - M - China - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053152 2346 172 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053153 2345 262 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053154 2340 163 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053155 2325 123 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053156 2392 261 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053157 2380 247 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053158 2371 141 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053159 2350 136 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053160 2405 191 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053161 2393 297 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053166 - - - M - - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 C. I. Edvard Smith
00053169 - - - M - - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 C. I. Edvard Smith
00053172 15 PubMed: Garcia Rodriguez, M. C (2001) - - - Spain - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053173 17 PubMed: Garcia Rodriguez, M. C (2001) - - - Spain Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA; Symptoms: Trombopenia, pneumonie, cojuntivitis, otitis BTK BTK 1 1 Dr. M. C. Garcia Rodriguez
00053174 14b PubMed: Garcia Rodriguez, M. C (2001) Relative in BTKbase: A0735; Relative in BTKbase: A0737 - ? Spain - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053175 14c PubMed: Garcia Rodriguez, M. C (2001) Relative in BTKbase: A0735; Relative in BTKbase: A0736 - - Spain - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053176 13 PubMed: Garcia Rodriguez, M. C (2001) - - ? Spain - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053177 14a PubMed: Garcia Rodriguez, M. C (2001) Relative in BTKbase: A0736; Relative in BTKbase: A0737 - - Spain - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053178 11b PubMed: Garcia Rodriguez, M. C (2001) Relative in BTKbase: A0731 - ? Spain - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053179 12 PubMed: Garcia Rodriguez, M. C (2001) - - - Spain - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053180 9 PubMed: Garcia Rodriguez, M. C (2001) - - ? Spain - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053181 11a PubMed: Garcia Rodriguez, M. C (2001) Relative in BTKbase: A0732 - ? Spain - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053182 - - Low Ig M - Mallorca Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Dr. Tracy Lester
00053183 - - Low Ig M - Mallorca Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Dr. Tracy Lester
00053184 XLA-2 PubMed: Noordzij, J. G (2002) PubMed: Noordzij, J. G (2002) - M - (Netherlands) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Patrizia Melia
00053185 XLA-12 PubMed: Noordzij, J. G (2002) - M - (Netherlands) - - 0 - - XLA;AGMX-1 Symptoms: Agranulocytosis BTK BTK 1 1 J.G. Noordzij
00053186 XLA-3 PubMed: Noordzij, J. G (2002) PubMed: Noordzij, J. G (2002) IgG level 6.8 after supplementation with IV gammaglobuline M - (Netherlands) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 J.G. Noordzij
00053187 - - - M - - - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Dr. Tracy Lester
00053188 - - sporadic case, not known if mother carries mutation M - England Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Dr. Tracy Lester
00053189 XLA-13.1 PubMed: Noordzij, J. G (2002) Relative in BTKbase: A0827 M - (Netherlands) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 J.G. Noordzij
00053193 - - - M - - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 C. I. Edvard Smith
00053194 - - - M - France Caucasoid - 0 - - XLA;AGMX-1 Symptoms: Otitis, respiratory trait infection BTK BTK 1 1 C. I. Edvard Smith
00053198 - - - M - - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 C. I. Edvard Smith
00053199 20 PubMed: Jin, H (1995) Affected male relative M - ? (unknown) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053200 35 PubMed: Jin, H (1995) - M - ? (unknown) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053201 55 PubMed: Jin, H (1995) Affected male relative M - ? (unknown) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053202 43 PubMed: Jin, H (1995) Affected male relative M - ? (unknown) - - 0 - - XLA;AGMX-1 Diagnosis: Moderate XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053203 26 PubMed: Jin, H (1995) Affected male relative M - ? (unknown) - - 0 - - XLA;AGMX-1 Diagnosis: Moderate XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053204 3 PubMed: Gaspar, H. B (1995) - M - - - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053205 56 PubMed: Jin, H (1995) Affected male relative M - ? (unknown) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053206 5 PubMed: Gaspar, H. B (1995) - M - - - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053207 4 PubMed: Gaspar, H. B (1995) - M - - - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053208 9 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Dr. Michael Weiss
00053209 1 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Dr. Michael Weiss
00053210 46 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Dr. Michael Weiss
00053211 39 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Dr. Michael Weiss
00053212 34 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Dr. Michael Weiss
00053213 20 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Dr. Michael Weiss
00053214 17 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Dr. Michael Weiss
00053215 14 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Dr. Michael Weiss
00053216 30 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Dr. Michael Weiss
00053217 15 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Dr. Michael Weiss
00053218 16 PubMed: Conley, M. E (1994) - M ? - - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053219 15 PubMed: Conley, M. E (1994) - M ? - - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053220 17 PubMed: Conley, M. E (1994) PubMed: Farrar, J.E (1996) - M ? - - - 0 - - XLA;AGMX-1 Diagnosis: Mild XLA; Symptoms: Neutropenia; ref [2] BTK BTK 1 1 Gerard C.P. Schaafsma
00053221 14 PubMed: Conley, M. E (1994) - M ? - - - 0 - - XLA;AGMX-1 Symptoms: Growth hormone deficiency BTK BTK 1 1 Gerard C.P. Schaafsma
00053222 22 PubMed: Conley, M. E (1994) PubMed: Farrar, J.E (1996) - M ? - - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA; Symptoms: Neutropenia; ref [3] BTK BTK 1 1 Gerard C.P. Schaafsma
00053223 21 PubMed: Conley, M. E (1994) - M ? - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Gerard C.P. Schaafsma
00053224 19 PubMed: Conley, M. E (1994) - M ? - - - 0 - - XLA;AGMX-1 Symptoms: Growth hormone deficiency BTK BTK 1 1 Gerard C.P. Schaafsma
00053225 Pt. 18 (ref. 2) PubMed: Conley, M. E (1994) PubMed: Conley, M. E (1995) - M - - - - 0 - - XLA;AGMX-1 - BTK BTK 1 1 Gerard C.P. Schaafsma
00053226 24 PubMed: Conley, M. E (1994) - M ? - - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053227 23 PubMed: Conley, M. E (1994) PubMed: Farrar, J.E (1996) - M ? - - - 0 - - XLA;AGMX-1 Symptoms: Neutropenia; ref[2] BTK BTK 1 1 Gerard C.P. Schaafsma
00053228 23 PubMed: Toth, B (2009) - M ? Ukraine - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053229 24 PubMed: Toth, B (2009) Relative in BTKbase: A1382; sibling M - Hungary - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053230 27 PubMed: Danielian, S (2003) - M ? Argentina - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053231 26 PubMed: Danielian, S (2003) - M ? Argentina - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053232 28 PubMed: Toth, B (2009) - M ? Poland - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053233 29 PubMed: Toth, B (2009) - M ? Poland - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053234 31 PubMed: Toth, B (2009) - M ? Russian Federation - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053235 32 PubMed: Toth, B (2009) - M ? Russian Federation - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053236 35 PubMed: Toth, B (2009) - M ? Poland - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053237 36 PubMed: Toth, B (2009) Relative in BTKbase: A1390; sibling M ? Ukraine - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053238 21a PubMed: Danielian, S (2003) Relative in BTKbase: A0892; nephew M ? Argentina - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053239 20b PubMed: Danielian, S (2003) Relative in BTKbase: A0889; brother M ? Argentina - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053240 25b PubMed: Danielian, S (2003) Relative in BTKbase: A0896; brother M ? Argentina - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053241 25a PubMed: Danielian, S (2003) Relative in BTKbase: A0897; brother M ? Argentina - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053242 24 PubMed: Danielian, S (2003) - M ? Argentina - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053243 23 PubMed: Danielian, S (2003) - M ? Argentina - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053244 P45 PubMed: Lee, P. P (2010) - M - China - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053245 Patient 29 PubMed: Fiorini, M (2004) - M - Italy Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053246 Patient 28 PubMed: Fiorini, M (2004) - M - Italy Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053247 Patient 26 PubMed: Fiorini, M (2004) - M - Italy Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053248 Patient 25 PubMed: Fiorini, M (2004) - M - Italy Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053249 Patient 24 PubMed: Fiorini, M (2004) - M - Italy Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053250 Patient 23 PubMed: Fiorini, M (2004) - M - Italy Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053251 Patient 22 PubMed: Fiorini, M (2004) - M - Italy Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053252 Patient 21 PubMed: Fiorini, M (2004) - M - Italy Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053253 2212 246 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053254 2230 178 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053255 2232 289 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053256 2125 118 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053257 2130 129 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053258 2135 269 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053259 Patient 30 PubMed: Fiorini, M (2004) - M - Italy Caucasoid - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA BTK BTK 1 1 Gerard C.P. Schaafsma
00053260 3 PubMed: Garcia Rodriguez, M. C (2001) 2 uncles deceased at early age by meningitis M - Spain Caucasian - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA; Symptoms: Pneumonia; Crohn's disease BTK BTK 1 1 Dr. M. C. Garcia Rodriguez
00053261 4 PubMed: Garcia Rodriguez, M. C (2001) Relative in BTKbase: A0153; cousin M - Spain Caucasian - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA; Symptoms: Otitis, meningitis, diarrhea BTK BTK 1 1 Dr. M. C. Garcia Rodriguez
00053262 16 PubMed: Garcia Rodriguez, M. C (2001) - M - Spain Caucasian - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA; Symptoms: Arthritis, otitis, pneumonia BTK BTK 1 1 Dr. M. C. Garcia Rodriguez
00053263 8a/b/c PubMed: Garcia Rodriguez, M. C (2001) Relative in BTKbase: A0634; second degree cousin; Relative in BTKbase: A0635; second degree cousin; Three cousins deceased at early age by infectious disease. Two cousins diagnosed of XLA M - Spain Caucasian - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA; Symptoms: Otitis, sepsis, neutropaenia BTK BTK 1 1 Dr. M. C. Garcia Rodriguez
00053264 8a/b/c PubMed: Garcia Rodriguez, M. C (2001) Relative in BTKbase: A0634; first degree cousin; Relative in BTKbase: A0636; second degree cousin; Three cousins deceased at early age by infectious disease. Two cousins diagnosed of XLA M - Spain Caucasian - 0 - - XLA;AGMX-1 Diagnosis: Classical XLA; Symptoms: Otitis and pneumonies. Viral meningitis BTK BTK 1 1 Dr. M. C. Garcia Rodriguez
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